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Lista de obras de Irwin McLean

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

article

A Large Mutational Study in Pachyonychia Congenita

artículo científico publicado en 2011

A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis

artículo científico publicado en 2013

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.

artículo científico publicado en 2009

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome

artículo científico publicado en 2005

A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays

artículo científico publicado en 2013

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2

artículo científico publicado en 1998

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis

artículo científico publicado en 2005

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy

artículo científico publicado en 2000

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

artículo científico publicado en 2002

A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.

artículo científico publicado en 2000

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy

artículo científico publicado en 1999

A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome

article

A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a.

artículo científico publicado en 2005

Achieving successful delivery of nucleic acids to skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium

artículo científico publicado en 2009

Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

artículo científico publicado en 2013

An Atypical Form of Bullous Congenital Ichthyosiform Erythroderma is Caused by a Mutation in the L12 Linker Region of Keratin 1

artículo científico publicado en 1998

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

Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations.

artículo científico publicado en 2009

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

artículo científico publicado en 2008

Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis

artículo científico publicado en 2008

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

artículo científico publicado en 2004

AvaII RFLP of human keratin 10 (KRT-10) detected by PCR.

artículo científico publicado en 1992

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

artículo científico publicado en 2017

Breach Delivery: Increased Solute Uptake Points to a Defective Skin Barrier in Atopic Dermatitis

scientific article published on 01 January 2007

Breaking the (Un)Sound Barrier: Filaggrin Is a Major Gene for Atopic Dermatitis

article

Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort.

artículo científico publicado en 2009

Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations

artículo científico publicado en 2010

Chromosome 11q13.5 variant: No association with atopic eczema in the Japanese population

artículo científico publicado en 2010

Clinical Severity Correlates with Impaired Barrier in Filaggrin-Related Eczema

scientific article published on 25 September 2008

Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa

artículo científico publicado en 2004

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

article

Close shave for a keratin disorder-K6hf polymorphism linked to Pseudofolliculitis barbae

artículo científico publicado en 2004

Clouston Syndrome Can Mimic Pachyonychia Congenita

artículo científico publicado en 2003

Combing the genome for the root cause of baldness

scientific article published on 01 November 2008

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

artículo científico publicado en 2006

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

article

Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations

artículo científico publicado en 2014

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1

artículo científico publicado en 1999

De Novo Occurrence of the Filaggrin Mutation p.R501X with Prevalent Mutation c.3321delA in a Japanese Family with Ichthyosis Vulgaris Complicated by Atopic Dermatitis

artículo científico publicado en 2007

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

artículo científico publicado en 2010

Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex

artículo científico publicado en 2011

Development of quantitative molecular clinical end points for siRNA clinical trials

artículo científico publicado en 2010

Development of therapeutic siRNAs for pachyonychia congenita

artículo científico publicado en 2007

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

artículo científico publicado en 2003

Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity

artículo científico publicado en 1997

Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif

artículo científico publicado en 1999

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

artículo científico publicado en 2014

Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.

artículo científico publicado en 2011

FLGmutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema

artículo científico publicado en 2009

Filaggrin gene loss-of-function mutations constitute a factor in patients with multiple contact allergies

scientific article published on 10 April 2019

Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status

artículo científico publicado en 2013

Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children.

artículo científico publicado en 2009

Filaggrin in atopic dermatitis.

scientific article published on 05 September 2008

Filaggrin in the frontline: role in skin barrier function and disease

artículo científico publicado en 2009

Filaggrin loss-of-function mutations and atopic dermatitis as risk factors for hand eczema in apprentice nurses: part II of a prospective cohort study

artículo científico publicado en 2013

Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age

article

Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency.

artículo científico publicado en 2012

Filaggrin loss-of-function variants are associated with atopic comorbidity in pediatric inflammatory bowel disease

artículo científico publicado en 2009

Filaggrin mutations are associated with recurrent skin infection in Singaporean Chinese patients with atopic dermatitis

article

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

artículo científico publicado en 2007

Filaggrin mutations associated with skin and allergic diseases.

artículo científico publicado en 2011

Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure

artículo científico publicado en 2009

Filaggrin mutations, atopic eczema, hay fever, and asthma in children

artículo científico publicado en 2008

Filaggrin null alleles are not associated with psoriasis

artículo científico publicado en 2007

Filaggrin null mutations and childhood atopic eczema: A population-based case-control study

article

Filaggrin null mutations are associated with increased asthma severity in children and young adults

artículo científico publicado en 2007

Filaggrin variants confer susceptibility to asthma

article

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

artículo científico publicado en 2007

Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis

artículo científico publicado en 2014

Focal Palmoplantar Keratoderma Caused by an Autosomal Dominant Inherited Mutation in the Desmoglein 1 Gene

article

Follow up of patients with ocular scarring secondary to LOC syndrome treated by amniotic membrane transplantation

artículo científico publicado en 2005

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

artículo científico publicado en 2002

Functional analysis of keratin components in the mouse hair follicle inner root sheath

artículo científico publicado en 2004

Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure

artículo científico publicado en 2008

Generation and characterisation of keratin 7 (K7) knockout mice

artículo científico publicado en 2013

Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder

artículo científico publicado en 2012

Genetic disorders of palm skin and nail

artículo científico publicado en 2003

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms

artículo científico publicado en 2015

Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene

artículo científico publicado en 2001

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

artículo científico publicado en 2012

Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly

artículo científico publicado en 2008

Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

artículo científico publicado en 2013

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

scientific article published on 02 June 2013

Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

article

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

article

Ichthyosis vulgaris: novelFLGmutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

article

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

article

Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis

scientific article published on February 2013

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect

artículo científico publicado en 2011

Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma

artículo científico publicado en 2010

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

artículo científico publicado en 1998

Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism

artículo científico publicado en 2017

Keratin 7 promoter selectively targets transgene expression to normal and neoplastic pancreatic ductal cells in vitro and in vivo

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans

artículo científico publicado en 2001

Keratin disorders: from gene to therapy

artículo científico publicado en 2011

Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity.

artículo científico publicado en 2011

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

artículo científico publicado en 2002

Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.

artículo científico publicado en 2003

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

artículo científico publicado en 2006

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

artículo científico publicado en 2009

Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.

artículo científico publicado en 2011

Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations

artículo científico publicado en 2006

Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis

artículo científico publicado en 2018

Missing C-terminal filaggrin expression, NFkappaB activation and hyperproliferation identify the dog as a putative model to study epidermal dysfunction in atopic dermatitis

article

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

artículo científico publicado en 2000

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.

artículo científico publicado en 2006

Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma.

artículo científico publicado en 2009

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

artículo científico publicado en 1997

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

artículo científico publicado en 1998

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

artículo científico publicado en 2012

Novel TGM5 mutations in acral peeling skin syndrome.

artículo científico publicado en 2015

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

artículo científico publicado en 2001

Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis.

artículo científico publicado en 2011

Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex

artículo científico publicado en 2004

Novel molecular therapies for heritable skin disorders

artículo científico publicado en 2011

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

artículo científico publicado en 1999

Null Mutations in the Filaggrin Gene (FLG) Determine Major Susceptibility to Early-Onset Atopic Dermatitis that Persists into Adulthood

article

Old King coal - molecular mechanisms underlying an ancient treatment for atopic eczema

artículo científico publicado en 2013

One remarkable molecule: filaggrin.

artículo científico publicado en 2011

Pachyonychia congenita type 2: abnormal dentition extending into adulthood

artículo científico publicado en 2008

Paternal Germ Cell Mosaicism in Autosomal Dominant Pachyonychia Congenita

artículo científico publicado en 2011

Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients

artículo científico publicado en 2013

Prevalent and Low-Frequency Null Mutations in the Filaggrin Gene Are Associated with Early-Onset and Persistent Atopic Eczema

article

Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis

article

Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

article

Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy—Expanding the differential diagnosis for pachyonychia congenita

article

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

Reliability and validity of genotyping filaggrin null mutations.

artículo científico publicado en 2012

Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma

artículo científico publicado en 2013

Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient

artículo científico publicado en 2002

SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita

artículo científico publicado en 2006

Single-nucleotide-specific siRNA targeting in a dominant-negative skin model

artículo científico publicado en 2007

Skin Barrier Function in Healthy Subjects and Patients with Atopic Dermatitis in Relation to Filaggrin Loss-of-Function Mutations

artículo científico publicado en 2010

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

artículo científico publicado en 2014

Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress

artículo científico publicado en 1998

Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in Japan

scientific article published on 17 January 2008

Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for Pachyonychia Congenita ⬇️

artículo científico publicado el 10 de marzo de 2011

Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation

scientific article published on 31 July 2009

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

article

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

artículo científico publicado en 2008

The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study

artículo científico publicado en 2008

The molecular genetics of the genodermatoses: progress to date and future directions.

artículo científico publicado en 2003

The phenotypic and molecular genetic features of pachyonychia congenita

artículo científico publicado en 2011

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

artículo científico publicado en 2008

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects

scientific journal article

Toward a treatment for pachyonychia congenita: report on the 7th Annual International Pachyonychia Congenita Consortium meeting

artículo científico publicado en 2011

Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.

artículo científico publicado en 2012

Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1

article

Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris

scientific article published on 31 January 2008

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

artículo científico publicado en 2007

Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.

artículo científico publicado en 2011

cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes

artículo científico publicado en 1998

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