Lista de obras - María José Escámez - Dominio Público Uruguay

A Recurrent Nonsense Mutation Occurring as a de novo Event in a Patient with Recessive Dystrophic Epidermolysis Bullosa

artículo científico publicado en 2011

A comparison of targeting performance of oncoretroviral versus lentiviral vectors on human keratinocytes

artículo científico publicado en 2003

A cutaneous gene therapy approach to treat infection through keratinocyte-targeted overexpression of antimicrobial peptides

artículo científico publicado en 2004

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.

artículo científico publicado en 2010

An in vivo model of wound healing in genetically modified skin-humanized mice.

artículo científico publicado en 2004

Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement.

artículo científico publicado en 2008

Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer

artículo científico publicado en 2014

Combined adipose mesenchymal stromal cell advanced therapy resolved a recalcitrant leg ulcer in an 85-year-old patient

scientific article published on 27 November 2020

Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.

artículo científico publicado en 2018

Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain

article

Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.

artículo científico

Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses

scientific article published on 15 April 2019

Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis ⬇️

artículo científico publicado en 2016

Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.

artículo científico publicado en 2017

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

artículo científico publicado en 2016

Inhibition of xenografted human melanoma growth and prevention of metastasis development by dual antiangiogenic/antitumor activities of pigment epithelium-derived factor

artículo científico publicado en 2004

Keratinocyte cell lines derived from severe generalized recessive epidermolysis bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo

artículo científico publicado en 2013

Long-term skin regeneration in xenografts from iPSC teratoma-derived human keratinocytes.

artículo científico publicado en 2016

Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.

artículo científico publicado en 2013

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic

scientific article published on 01 January 2010

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

artículo científico publicado en 2010

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

artículo científico publicado en 2009

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

artículo científico publicado en 2010

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

artículo científico publicado en 2010

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

artículo científico publicado en 2009

Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population

article

Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa

artículo científico publicado en 2010

Skin gene therapy for acquired and inherited disorders.

artículo científico publicado en 2006

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.

artículo científico publicado en 2010

Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response

artículo científico publicado en 2020

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

artículo científico publicado en 2011

Type 3 Iodothyronine Deiodinase Is Selectively Expressed in Areas Related to Sexual Differentiation in the Newborn Rat Brain

scientific article published on 01 November 1999

X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.

scientific article published on 04 June 2010

Lista de obras de María José Escámez

A Recurrent Nonsense Mutation Occurring as a de novo Event in a Patient with Recessive Dystrophic Epidermolysis Bullosa

A comparison of targeting performance of oncoretroviral versus lentiviral vectors on human keratinocytes

A cutaneous gene therapy approach to treat infection through keratinocyte-targeted overexpression of antimicrobial peptides

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.

An in vivo model of wound healing in genetically modified skin-humanized mice.

Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement.

Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer

Combined adipose mesenchymal stromal cell advanced therapy resolved a recalcitrant leg ulcer in an 85-year-old patient

Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.

Epidemiology and natural history of cutaneous squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients: 20 years' experience of a reference centre in Spain

Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.

Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses

Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis ⬇️

Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

Inhibition of xenografted human melanoma growth and prevention of metastasis development by dual antiangiogenic/antitumor activities of pigment epithelium-derived factor

Keratinocyte cell lines derived from severe generalized recessive epidermolysis bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo

Long-term skin regeneration in xenografts from iPSC teratoma-derived human keratinocytes.

Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis Bullosa, Distrophic

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica

Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.

Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population

Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa

Skin gene therapy for acquired and inherited disorders.

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.

Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

Type 3 Iodothyronine Deiodinase Is Selectively Expressed in Areas Related to Sexual Differentiation in the Newborn Rat Brain

X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.