List of works - María José Escámez

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

scientific article published on 18 August 2011

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

scientific article published on 01 November 2003

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

scientific article published on 29 September 2004

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

scientific article

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

scientific article published in December 2004

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

scientific article published on 10 January 2008

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

scientific article (publication date: 30 March 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.

scientific article published on 31 January 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.

scientific article published on 29 May 2012

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 ⬇️

scientific article published on 24 December 2016

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

scientific article published on 22 December 2017

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

scientific article published on 6 January 2016

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

scientific article

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

scientific article published in September 2013

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

scientific article published on 20 April 2016

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

scientific article published on 24 July 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

scientific article published on 01 January 2010

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

scientific article published on 01 August 2009

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

scientific article published in January 2010

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

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

scientific article

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

scientific article published on 24 June 2010

Skin gene therapy for acquired and inherited disorders.

scientific article published on November 2006

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

scientific article published on 22 February 2010

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

scientific article published on 31 December 2020

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

scientific article published in September 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

List of works by 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.