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De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome
(John Wiley & Sons, 2012)
BACKGROUND:
Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin and mucous membrane fragility, with formation of blisters and ...
De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome
(John Wiley & Sons, 2012)
BACKGROUND:
Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin and mucous membrane fragility, with formation of blisters and ...
Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo
(2022)
Lack of type VII collagen (C7) disrupts cellular proteostasis yet the mechanism remains undescribed. By studying the relationship between C7 and the extracellular matrix (ECM)-associated proteins thrombospondin-1 (TSP1), ...
Análise mutacional do gene COL7A1 nos pacientes brasileiros e terapia gênica para epidermólise bolhosa distrófica recessiva com macrófagos modificados com COL7A1 em modelo murino
(Universidade Federal de São Paulo (UNIFESP), 2016-03-31)
Recessive Dystrophic Epidermolysis BulIosa (RDEB) is a very aggressrve monogenic disease whose lack of colIagen VII cause blisters and lesions in all epithelia. There is no effective treatment to date and diagnosis of the ...
Characterisation of the pathophysiology of neuropathy and sensory dysfunction in a mouse model of recessive dystrophic epidermolysis bullosa
(2022)
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic condition in which mutations in the type VII collagen gene ( COL7A1 ) lead to decreased expression of this anchoring protein of the skin, causing the loss ...
Characterisation of the pathophysiology of neuropathy and sensory dysfunction in a mouse model of recessive dystrophic epidermolysis bullosa
(LIPPINCOTT WILLIAMS & WILKINS, 2022)
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic condition in which mutations in the type VII collagen gene (COL7A1) lead to decreased expression of this anchoring protein of the skin, causing the loss ...
Identificación de interacciones proteicas de ADAMTS19 en un contexto ovárico
(Universidad del RosarioMaestría en Ciencias con Énfasis en Genética HumanaFacultad de medicina, 2017)
ADAMTS proteins (disintegrins and metalloproteinases with thrombospondin motifs) have been associated with various biological processes including follicular development and ovulation. Some members are considered orphan ...
Efecto del sistema de producción sobre la asociación de algunos polimorfismos de los genes CAPN, CAST y LEP con su expresión génica y el efecto fenotípico en la producción y calidad de la carne en ganado brahman comercial.
(Universidad Nacional de ColombiaMedellín - Ciencias - Doctorado en BiotecnologíaEscuela de biocienciasFacultad de CienciasMedellín, ColombiaUniversidad Nacional de Colombia - Sede Medellín, 2021-08)
La ganadería de carne en Colombia se basa fundamentalmente en animales Bos indicus de la raza brahman, porque esta se adapta a las difíciles condiciones del trópico bajo, el cual se caracteriza por una oferta nutricional ...