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3D In vitro model of a functional epidermal permeability barrier from human embryonic stem cells and induced pluripotent stem cells

artículo científico publicado en 2014

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

article

A Th2 Cytokine Interleukin-31 Signature in a Case of Sporadic Lichen Amyloidosis

artículo científico publicado en 2015

A clinician's guide to omics resources in dermatology

artículo científico publicado en 2022

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

scientific article published on 01 June 2001

A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics

artículo científico publicado en 2020

A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

artículo científico publicado en 2000

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

artículo científico publicado en 2010

A new clinical diagnostic matrix for epidermolysis bullosa.

artículo científico publicado en 2017

A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.

artículo científico publicado en 2013

A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family.

artículo científico publicado en 2009

A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes.

artículo científico publicado en 1999

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

artículo científico publicado en 2008

A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa

artículo científico publicado en 1999

A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

artículo científico publicado en 1999

A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

scientific article published on 01 October 1998

A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele

artículo científico publicado en 1997

A retrospective analysis of tissue-fixed immunoreactants from skin biopsies maintained in Michel's medium

scientific article published on 01 January 1994

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2018

ATR gene mutations in HPV negative oropharyngeal cancer

artículo científico publicado en 2016

Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa

scientific article published on 01 February 1997

Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder.

artículo científico publicado en 2008

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

artículo científico publicado en 2013

Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder

artículo científico publicado en 2011

Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.

artículo científico publicado en 2015

Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa

artículo científico publicado en 1999

Alopecia universalis associated with a mutation in the human hairless gene

artículo científico publicado en 1998

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin

scientific article published on 25 August 2015

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

artículo científico publicado en 2001

Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1

artículo científico publicado en 2003

Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 2004

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa

artículo científico publicado en 1995

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.

artículo científico publicado en 2017

An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene

artículo científico publicado en 2005

An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507delT) in the extracellular matrix protein 1 gene

scientific article published on 01 September 2004

An essential role for the Zn2+ transporter ZIP7 in B cell development

artículo científico publicado en 2019

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

artículo científico publicado en 2003

Animal models of epidermolysis bullosa: update 2010

artículo científico publicado en 2010

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

artículo científico publicado en 2020

Augmentation of cutaneous wound healing by pharmacologic mobilization of endogenous bone marrow stem cells

artículo científico publicado en 2014

Autoantibodies to extracellular matrix protein 1 in lichen sclerosus

scientific article published in The Lancet

Autoinflammatory keratinization diseases

scientific article published on 28 June 2017

Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin

artículo científico publicado en 2018

Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

article

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

artículo científico publicado en 2015

Autosomal dominant junctional epidermolysis bullosa.

artículo científico publicado en 2009

Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations

scientific article published on 13 August 2020

Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities

artículo científico publicado en 2020

BPAG1-e Restricts Keratinocyte Migration through Control of Adhesion Stability

scholarly article by Magdalene Michael published in June 2014

BPAG1-e restricts keratinocyte migration through control of adhesion stability.

artículo científico publicado en 2013

Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14.

artículo científico publicado en 2017

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

artículo científico publicado en 2015

Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"

scientific article published on 11 July 2019

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

artículo científico publicado en 2017

Blaschko-linear lichen planus: Clinicopathological and genetic analysis

artículo científico publicado en 2020

Blistering skin diseases: a bridge between dermatopathology and molecular biology.

artículo científico publicado en 2010

Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts

scientific article published on 28 June 2019

Bone marrow transplantation for recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2010

Bone marrow transplantation in epidermolysis bullosa.

artículo científico

Bone metabolism in children with epidermolysis bullosa.

artículo científico publicado en 2002

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP

artículo científico publicado en 2016

Case of Kindler syndrome resulting from mutation in the FERMT1 gene

artículo científico publicado en 2012

Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator.

artículo científico publicado en 2010

Caveolin-1 Controls Hyperresponsiveness to Mechanical Stimuli and Fibrogenesis-Associated RUNX2 Activation in Keloid Fibroblasts

artículo científico publicado en 2017

Cell therapy in dermatology.

artículo científico publicado en 2014

Characterization of IgG autoantibodies to extracellular matrix protein 1 in lichen sclerosus

artículo científico publicado en 2004

Clinical and molecular abnormalities in lipoid proteinosis.

artículo científico publicado en 2005

Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.

artículo científico publicado en 2007

Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome

scientific article published on 01 January 2005

Clinical features andWNT10Amutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome

scientific article published on 15 October 2014

Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait

artículo científico publicado en 2018

Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas

scientific article published on 04 September 2019

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.

artículo científico publicado en 2018

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

artículo científico publicado en 2008

Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa

artículo científico publicado en 2010

Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies

artículo científico publicado en 2002

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

article

Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities

artículo científico publicado en 2006

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.

artículo científico publicado en 2005

Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 1997

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

artículo científico publicado en 2002

Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'.

artículo científico publicado en 2018

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

artículo científico publicado en 2017

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

artículo científico publicado en 2010

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

scientific article published on 01 February 2019

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

scientific article published on 04 February 2020

Cord Blood-Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa

scientific article published on 24 September 2018

Corrigendum to "Metabolic perturbations in fibrosis disease" [Int. J. Biochem. Cell Biol. 139 (2021) 106073]

artículo científico publicado en 2021

Cultured keratinocyte allografts and wound healing in severe recessive dystrophic epidermolysis bullosa

scientific article published on 01 September 1993

Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa

artículo científico publicado en 1998

Cytosine Deaminase Base Editing to Restore in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.

artículo científico publicado en 2017

Defining target antigens in linear IgA disease using skin from subjects with inherited epidermolysis bullosa as a substrate for indirect immunofluorescence microscopy

artículo científico publicado en 1999

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients

scientific article published on 10 April 2019

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

scientific article published on 25 August 2013

Desmosomes exhibit site-specific features in human palm skin

scientific article published on 01 August 2003

Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.

artículo científico publicado en 2008

Detailed hair shaft analysis in a man with delayed-onset Chediak-Higashi syndrome

scientific article published on 04 September 2019

Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa.

artículo científico publicado en 2010

Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus

artículo científico publicado en 2004

Diagnosis by numbers: defining skin disease pathogenesis through collated gene signatures

artículo científico publicado en 2015

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa ⬇️

artículo científico publicado el 1 de octubre de 2003

Diseases of epidermal keratins and their linker proteins

artículo científico publicado en 2007

Dyskeratosis congenita: new clinical and molecular insights into ribosome function

artículo científico publicado en 1999

E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa

artículo científico publicado en 1998

EB2017 - Progress in Epidermolysis Bullosa Research Towards Treatment and Cure

artículo científico publicado en 2018

EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa

scientific article published on 27 November 2019

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.

artículo científico publicado en 2002

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

artículo científico publicado en 2015

EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis

scientific article published on 31 May 2019

Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes

artículo científico publicado en 2004

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene

artículo científico publicado en 2011

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

artículo científico publicado en 2016

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

artículo científico publicado en 2006

Ectodermal dysplasia-skin fragility syndrome.

artículo científico publicado en 2010

Ectodermal dysplasia-skin fragility syndrome: two new cases and review of this desmosomal genodermatosis

artículo científico publicado en 2020

Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model

scientific article published on 10 May 2018

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14 ⬇️

artículo científico publicado el 1 de diciembre de 1991

Epidermolysis bullosa

artículo científico publicado en 2006

Epidermolysis bullosa

Epidermolysis bullosa acquisita--a case with upper airways obstruction requiring tracheostomy and responding to cyclosporin

artículo científico publicado en 1993

Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases

artículo científico publicado el 1 de abril de 1992

Epidermolysis bullosa pruriginosa in association with lichen planopilaris.

artículo científico publicado en 2009

Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus

scientific article published on 01 August 2011

Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.

artículo científico publicado en 2013

Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review ⬇️

artículo científico publicado el 1 de mayo de 1992

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

artículo científico publicado en 2014

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

artículo científico publicado en 2015

Expression of mutant p53 gene in squamous carcinoma arising in patients with recessive dystrophic epidermolysis bullosa

artículo científico publicado el 1 de marzo de 1992

Extracellular matrix protein 1 autoantibodies in male genital lichen sclerosus

artículo científico publicado en 2011

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

artículo científico publicado en 2003

Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions

artículo científico publicado en 2006

Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2.

artículo científico publicado en 2005

Familial carotenaemia and carotenoderma

scientific article published on 30 May 2014

Familial frontal fibrosing alopecia

artículo científico publicado en 2015

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.

artículo científico publicado en 2005

Familial primary localized cutaneous amyloidosis in Brazil.

artículo científico publicado en 2009

Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR

artículo científico publicado en 2015

Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG

scientific article published on 14 July 2015

Fibrillin immunoreactivity is associated with normal or fragmented elastic microfibrils at the dermal-epidermal junction in recessive dystrophic epidermolysis bullosa

scientific article published on 01 October 1994

Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.

artículo científico publicado en 2013

Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2012

Finasteride is of uncertain utility in treating frontal fibrosing alopecia

artículo científico publicado en 2016

First Use of Allogeneic Stem Cells in the Treatment of Recessive Dystrophic Epidermolysis Bullosa: Demonstration of Biochemical and Clinical Improvement. ⬇️

artículo científico publicado en 2009

Fish odour syndrome with features of both primary and secondary trimethylaminuria.

artículo científico publicado en 2003

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

artículo científico publicado en 2007

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

artículo científico publicado en 2007

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

artículo científico publicado en 2014

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

artículo científico publicado en 2002

Frequency of the CCR5 gene 32-basepair deletion in Hispanic Mexicans

artículo científico publicado en 1999

Frontal fibrosing alopecia should be renamed to lichen planopilaris of Kossard

scientific article published on 09 April 2019

Frontal fibrosing alopecia: a descriptive cross-sectional study of 711 female cases from the U.K.

scientific article published on 11 July 2020

Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis

artículo científico publicado en 2016

Frontal fibrosing alopecia: there is no statistically significant association with leave-on facial skin care products and sunscreens

artículo científico publicado en 2016

Functional redundancy of extracellular matrix protein 1 in epidermal differentiation.

artículo científico publicado en 2007

Further evidence for genotype-phenotype disparity in Griscelli syndrome.

artículo científico publicado en 2016

Gene therapies for inherited skin disorders

artículo científico publicado en 2014

Generalized dystonia and striatal calcifications with lipoid proteinosis.

artículo científico publicado en 2004

Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial

scientific article published on 05 August 2019

Genetic analysis in Egyptian patients with Chediak-Higashi syndrome reveals new LYST mutations

scientific article published on 27 February 2019

Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

artículo científico publicado en 2020

Genetic diseases of junctions.

artículo científico publicado en 2007

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

artículo científico publicado en 2019

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

artículo científico publicado en 2018

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

artículo científico publicado en 2020

Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

artículo científico publicado en 2019

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa

artículo científico publicado en 2002

Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.

artículo científico publicado en 2005

Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

artículo científico publicado en 2002

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

artículo científico publicado en 2012

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

artículo científico publicado en 2016

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

artículo científico publicado en 2012

Germline mutation in PDGFRB may be implicated in hereditary progressive mucinous histiocytosis

scientific article published on 10 December 2020

Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 2007

Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH

scientific article published on 13 November 2019

HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.

artículo científico publicado en 2011

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

artículo científico publicado en 2012

Hereditary diseases of desmosomes.

artículo científico publicado en 1999

Heterogeneous addiction to TGFβ signalling in recessive dystrophic epidermolysis bullosa associated cutaneous squamous cell carcinoma

artículo científico publicado en 2020

High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion.

artículo científico publicado en 2014

Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

artículo científico publicado en 2019

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

artículo científico publicado en 2017

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

article

Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras

scientific article published on 19 July 2019

Human hair abnormalities resulting from inherited desmosome gene mutations.

artículo científico publicado en 2005

Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2.

artículo científico publicado en 2013

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood

artículo científico publicado en 2016

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2

artículo científico publicado en 2015

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

artículo científico publicado en 2011

Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma

artículo científico publicado en 2019

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia

scientific article published on 01 June 2010

Immune tolerance of allogeneic hematopoietic cell transplantation supports donor epidermal grafting of recessive dystrophic epidermolysis bullosa chronic wounds

scientific article published on 31 August 2020

Immunoelectron microscopy of skin basement membrane zone antigens: a pre-embedding method using 1-nm immunogold with silver enhancement.

artículo científico publicado en 1994

Immunogold electron microscopy using skin in Michel's medium intended for immunofluorescence analysis

artículo científico publicado en 2001

Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation

scientific article published on 01 June 1997

Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.

artículo científico publicado en 1997

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

artículo científico publicado en 2013

Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti.

artículo científico publicado en 2015

Incontinentia pigmenti in a father and daughter.

artículo científico publicado en 2016

Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.

artículo científico publicado en 2009

Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin

artículo científico publicado en 2016

Infantile acquired zinc deficiency resembling acrodermatitis enteropathica

artículo científico publicado en 2005

Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene

artículo científico publicado en 2012

Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies

artículo científico

Inherited disorders of desmosomes.

artículo científico publicado en 2005

Inherited epidermolysis bullosa comes into the new millenium: a revised classification system based on current knowledge of pathogenetic mechanisms and the clinical, laboratory, and epidemiologic findings of large, well-defined patient cohorts

scientific article published on 01 July 2000

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

artículo científico publicado en 2014

Inherited palmoplantar keratodermas: the heart of the matter.

artículo científico publicado en 2017

Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma

artículo científico publicado en 2011

Intra-familial variability of ectodermal defects associated with WNT10A mutations

scientific article published on 01 May 2011

Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin

artículo científico publicado el 1 de octubre de 1992

Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10

scientific article published on 04 September 2015

Is adermatoglyphia an additional feature of Kindler Syndrome?

artículo científico publicado en 2015

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome

artículo científico publicado en 2007

Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.

artículo científico publicado en 2013

Keratinocyte adhesion and the missing link: from Dowling-Meara to Hay-Wells. St John's Hospital Dermatological Society Annual Oration 2000.

artículo científico publicado en 2001

Keratinocyte heal thyself: a new form of "natural gene therapy".

artículo científico publicado en 2004

Kindler syndrome

scientific article published on 01 January 2010

Kindler syndrome: a focal adhesion genodermatosis.

artículo científico publicado en 2008

Kindler syndrome: a new mutation and new diagnostic possibilities

scientific article published on 01 May 2006

Kindlin-1 Regulates Epidermal Growth Factor Receptor Signaling

artículo científico publicado en 2018

Kindlin-1 Regulates Keratinocyte Electrotaxis.

artículo científico publicado en 2016

Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous stem cell proliferation

scientific journal article

LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.

artículo científico publicado en 1998

LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum

artículo científico publicado en 2005

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

artículo científico publicado en 2003

Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria.

artículo científico publicado en 1997

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

artículo científico publicado en 2017

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

artículo científico publicado en 2016

Late diagnosis of ectodermal dysplasia syndrome.

artículo científico publicado en 2012

Late-onset pretibial recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 2013

Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

artículo científico publicado en 2016

Lethal acantholytic epidermolysis bullosa

artículo científico publicado en 2010

Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis

artículo científico publicado en 2018

Lichen planus and lichenoid dermatoses: Conventional and emerging therapeutic strategies

artículo científico publicado en 2018

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

artículo científico publicado en 2011

Limited ectrodactyly, ectodermal dysplasia and cleft lip-palate syndrome with a p63 mutation, associated with linear and whorled naevoid hypermelanosis

artículo científico publicado en 2014

Lipoid proteinosis

artículo científico publicado en 2015

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

artículo científico publicado en 2002

Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

scientific article published on 02 October 2014

Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation

artículo científico publicado en 2009

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome

artículo científico publicado en 2003

Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.

artículo científico publicado en 2009

Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa

artículo científico publicado en 2015

MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans

artículo científico publicado en 2012

Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines

artículo científico

Matrix metalloproteinase-7 activates heparin-binding epidermal growth factor-like growth factor in cutaneous squamous cell carcinoma.

artículo científico publicado en 2010

Metabolic perturbations in fibrosis disease

scientific article published on 27 August 2021

Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study

artículo científico publicado el 1 de octubre de 1992

Molecular abnormalities of the desmosomal protein desmoplakin in human disease.

artículo científico publicado en 2005

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

artículo científico publicado en 2011

Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

scientific article published on 25 February 2020

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

artículo científico publicado en 2009

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

artículo científico publicado en 2006

Molecular basis of blistering skin diseases

artículo científico publicado en 1998

Molecular basis of lipoid proteinosis in a Libyan family.

artículo científico publicado en 2003

Molecular basis of lipoid proteinosis in two Indian siblings

artículo científico publicado en 2004

Molecular genetics as a diagnostic and prognostic aid in the assessment of neonates with red, scaly genodermatoses: work still in progress.

artículo científico publicado en 2008

Montagna Symposium 2017-Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment.

artículo científico publicado en 2018

Most individuals with either segmental or non-segmental vitiligo display evidence of bilateral cochlear dysfunction.

artículo científico publicado en 2014

Mucocutaneous Engraftment and Type VII Collagen (C7) Replacement after Allogeneic Hematopoietic Cell Transplantation (HCT) in Patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) ⬇️

scholarly article

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa

scientific article published on 01 April 1997

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.

artículo científico publicado en 2017

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.

artículo científico publicado en 2012

Mutations in EXPH5 result in autosomal recessive inherited skin fragility.

artículo científico publicado en 2014

Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex

artículo científico publicado en 2015

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome

artículo científico publicado en 2014

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex

scientific article published on 19 January 2017

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

scientific article published on 18 November 2018

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities

artículo científico publicado en 2020

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

artículo científico publicado en 1997

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

artículo científico publicado en 2022

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

artículo científico publicado en 2006

Naevus sebaceus: a mosaic RASopathy.

artículo científico publicado en 2014

Nail lichen planus

scientific article published on 23 January 2019

Neonatal diagnosis of Kindler syndrome.

artículo científico publicado en 2005

New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis

artículo científico publicado en 2020

New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy

artículo científico publicado en 2007

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

artículo científico publicado en 2010

New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis.

artículo científico publicado en 2009

New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.

artículo científico publicado en 2014

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

artículo científico publicado en 2001

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

scientific article published on 03 August 2018

Next-generation diagnostics for genodermatoses.

artículo científico publicado en 2012

Next-generation diagnostics for inherited skin disorders

artículo científico publicado en 2011

No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.

artículo científico publicado en 2010

Non-specific scalp crusting as a presenting feature of Brunsting-Perry cicatricial pemphigoid

artículo científico publicado en 1999

Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL

scientific article published on 18 September 2019

Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases

artículo científico publicado en 2005

Novel TGM5 mutations in acral peeling skin syndrome.

artículo científico publicado en 2015

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 2017

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

scientific article published on 13 December 2011

Novel and recurrent FERMT1 gene mutations in Kindler syndrome

artículo científico publicado en 2011

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.

artículo científico publicado en 2015

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

artículo científico publicado en 2017

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis

artículo científico publicado en 2015

Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype

artículo científico publicado en 2015

Novel molecular therapies for heritable skin disorders

artículo científico publicado en 2011

Novel mutation in a child with Goltz syndrome.

artículo científico publicado en 2011

Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome

scientific article published on 14 May 2020

Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families

scientific article published on 21 October 2008

Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3

artículo científico publicado en 2015

Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3

artículo científico publicado en 2014

On Medawar's 'Actively acquired tolerance of foreign cells'.

artículo científico publicado en 2014

Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis

artículo científico publicado en 2008

Oral and gastrointestinal manifestations of epidermolysis bullosa

artículo científico publicado el 19 de diciembre de 1992

PADI3, hair disorders and genomic investigation

scientific article published on 01 December 2019

PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia

artículo científico publicado en 2011

PLACK syndrome resulting from a new homozygous insertion mutation in CAST.

artículo científico publicado en 2017

PLACK syndrome: the penny dropped

scientific article published on 12 September 2020

PORCN gene mutations and the protean nature of focal dermal hypoplasia.

artículo científico publicado en 2009

Pachyonychia congenita: cast in translation

scientific article published on 01 May 2011

Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa

scientific article published on 06 December 2013

Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.

artículo científico publicado en 2007

Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2019

Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations

artículo científico publicado en 2006

Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis

artículo científico publicado en 2020

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations

artículo científico publicado en 2016

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

artículo científico publicado en 2008

Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa

artículo científico publicado en 2015

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 2008

Preconditioning of mesenchymal stem cells for improved transplantation efficacy in recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2014

Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing.

artículo científico publicado en 2016

Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy

artículo científico publicado en 1997

Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report

scientific article published on 01 December 2000

Preimplantation genetic diagnosis of severe inherited skin diseases

artículo científico publicado en 1998

Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome

artículo científico publicado en 2006

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.

artículo científico publicado en 2006

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins

artículo científico publicado en 2005

Prenatal diagnosis of epidermolysis bullosa.

artículo científico publicado en 2010

Preoperative liver shrinking diet for bariatric surgery may impact wound healing: a randomized controlled trial

artículo científico publicado en 2018

Prevalence, pathophysiology and management of itch in epidermolysis bullosa

artículo científico publicado en 2020

Profilaggrin, dry skin, and atopic dermatitis risk: size matters.

artículo científico publicado en 2012

Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.

artículo científico publicado en 1998

Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012.

artículo científico publicado en 2013

Progress in epidermolysis bullosa research: toward treatment and cure

scientific article published on 15 April 2010

Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015

artículo científico publicado en 2016

Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).

artículo científico publicado en 2015

Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene

artículo científico publicado en 2004

Pseudoporphyria induced by ultraviolet radiation

artículo científico publicado en 2019

Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome

artículo científico publicado en 2019

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

artículo científico publicado en 2015

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease

artículo científico publicado en 1998

Questioning the Clinical Utility of Exome Sequencing in Developing Countries

artículo científico publicado en 2016

Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody

artículo científico publicado en 2004

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

artículo científico publicado en 2006

Rapp-Hodgkin syndrome and the tail of p63

artículo científico publicado en 2005

Rare inherited skin diseases and the Genomics England 100 000 Genome Project.

artículo científico publicado en 2016

Recently Identified Forms of Epidermolysis Bullosa

artículo científico publicado en 2015

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

artículo científico publicado en 2017

Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa

artículo científico publicado en 1999

Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema

scientific article published on 31 July 2009

Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome

artículo científico publicado en 2007

Recurrent KRT10 Variant in Ichthyosis with Confetti

artículo científico publicado en 2020

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.

artículo científico publicado en 2012

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

artículo científico publicado en 2004

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa

scientific article published on 01 August 1997

Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation

artículo científico publicado en 2007

Reduced Intensity Conditioned Bone Marrow Transplant with Post-Transplant Cyclophosphamide and Donor-Derived Mesenchymal Stromal Cell Infusions for Recessive Dystrophic Epidermolysis Bullosa ⬇️

scholarly article

Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa

artículo científico publicado en 2015

Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2004

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes

artículo científico publicado en 2002

Retrospective diagnosis of Kindler syndrome in a 37-year-old man.

artículo científico publicado en 2006

Revertant Mosaicism in Kindler Syndrome

article

Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa

scientific article published on 08 July 2019

Revertant mosaicism in recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2010

Revertant mosaicism in skin: natural gene therapy

artículo científico publicado en 2011

Revertant mosaicism in the skin.

artículo científico publicado en 2013

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa

scientific article published on 06 June 2019

Schopf-Schulz-Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis

scientific article published on 29 August 2019

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A

artículo científico publicado en 2010

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A

scientific article published on 29 June 2011

Searching for candidate genes in the new millennium.

artículo científico publicado en 2001

Second cite

scientific article published on 01 November 2006

Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)

artículo científico publicado el 1 de julio de 1992

Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

artículo científico publicado en 2019

Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome

artículo científico publicado en 1999

Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2013

Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 2006

Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa

artículo científico publicado en 2006

Skin differences based on age and chronicity of ultraviolet exposure: results from a gene expression profiling study.

artículo científico publicado en 2012

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

scientific article published on 01 February 1999

Slac2-b co-ordinates extracellular vesicle secretion to regulate keratinocyte adhesion and migration

artículo científico publicado en 2020

Sneddon syndrome associated with two novel ADA2 gene mutations

scientific article published on 25 October 2019

Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2014

Spatial activation of ezrin by epidermal growth factor receptor and focal adhesion kinase co-ordinates epithelial cell migration

scientific article published on 11 August 2021

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

artículo científico publicado en 2001

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

article

Sporadic Kindler syndrome with a novel mutation

artículo científico publicado en 2013

Stem cell therapies for recessive dystrophic epidermolysis bullosa.

artículo científico publicado en 2010

Strategies to identify disease genes

artículo científico publicado en 2002

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

artículo científico publicado en 1999

Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC.

artículo científico

Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.

artículo científico publicado en 2016

Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS

artículo científico publicado en 2015

Thalidomide in the management of epidermolysis bullosa pruriginosa.

artículo científico publicado en 2005

The Control of Seborrhoeic Dermatitis and Dandruff by Antipityrosporal Drugs

artículo científico publicado el 1 de febrero de 1991

The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

article

The Molecular Pathology of Progressive Symmetric Erythrokeratoderma: A Frameshift Mutation in the Loricrin Gene and Perturbations in the Cornified Cell Envelope ⬇️

artículo científico publicado el 1 de septiembre de 1997

The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin Diseases.

artículo científico publicado en 2017

The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.

artículo científico publicado en 2006

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

artículo científico publicado en 2008

The course of pregnancy and childbirth in three mothers with recessive dystrophic epidermolysis bullosa

scientific article published on 18 October 2011

The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes

artículo científico publicado en 2015

The filaggrin story: novel insights into skin-barrier function and disease

artículo científico publicado en 2007

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

artículo científico publicado en 2011

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

artículo científico publicado en 2010

The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome

artículo científico publicado en 2013

The molecular basis of dystrophic epidermolysis bullosa in Mexico

scientific article published on 01 June 2000

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.

artículo científico publicado en 2007

The natural history of laryngo‐onycho‐cutaneous syndrome: A case series of six pediatric patients and literature review

artículo científico publicado en 2021

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex

artículo científico publicado en 2015

The role of fibroblasts in tissue engineering and regeneration.

artículo científico publicado en 2007

The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa

scientific article published on 01 January 1997

The three-body problem of therapy with induced pluripotent stem cells.

artículo científico publicado en 2015

There is no proven association between sensitization to benzyl salicylate and frontal fibrosing alopecia

artículo científico publicado en 2021

Thrombospondin-1 Is a Major Activator of TGF-β Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts

scientific article published on 23 January 2019

Time Series Integrative Analysis of RNA Sequencing and MicroRNA Expression Data Reveals Key Biologic Wound Healing Pathways in Keloid-Prone Individuals

artículo científico publicado en 2018

Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia

artículo científico publicado en 2017

Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas.

artículo científico publicado en 2008

Transplanted bone marrow-derived circulating PDGFRα+ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft

artículo científico publicado en 2015

Treatment of hereditary epidermolysis bullosa: updates and future prospects.

artículo científico

Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes.

scientific article published on 19 December 2013

Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction.

artículo científico publicado en 1994

Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

scientific article published on 20 October 2014

Venturing into the New Science of Nucleases

artículo científico publicado en 2016

WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation

artículo científico publicado en 2017

What is Kindler syndrome?

artículo científico publicado en 2011

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

artículo científico publicado en 2015

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

artículo científico publicado en 2014

[2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families].

artículo científico publicado en 2006

α4/α9 Integrins Coordinate Epithelial Cell Migration Through Local Suppression of MAP Kinase Signaling Pathways

scientific article published on 01 December 2021

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