نتایج جستجو برای: dystrophic epidermolysis bullosa

تعداد نتایج: 6516  

Journal: :Actas dermo-sifiliograficas 2015
F Larcher M Del Río

Recessive dystrophic epidermolysis bullosa (RDEB) is among the most serious rare skin diseases. It is also the rare skin disease for which most effort has been expended in developing advanced therapeutic interventions. RDEB is caused by collagen VII deficiency resulting from COL7A1 mutations. Therapeutic approaches seek to replenish collagen VII and thus restore dermal-epidermal adhesion. Thera...

2013
Marilina Tampoia Domenico Bonamonte Angela Filoni Lucrezia Garofalo Maria Grazia Morgese Luigia Brunetti Chiara Di Giorgio Giuseppina Annicchiarico

BACKGROUND Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant com...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1991
M G Parente L C Chung J Ryynänen D T Woodley K C Wynn E A Bauer M G Mattei M L Chu J Uitto

A human keratinocyte cDNA expression library in bacteriophage lambda gt11 was screened with the purified IgG fraction of serum from a patient with epidermolysis bullosa acquisita, which had a high titer of anti-type VII collagen antibodies. Screening of approximately 3 x 10(5) plaques identified 8 positive clones, the largest one (K-131) being approximately 1.9 kilobases in size. Dideoxynucleot...

Journal: :THE JOURNAL OF JAPAN SOCIETY FOR CLINICAL ANESTHESIA 1998

Journal: :Proceedings of the Royal Society of Medicine 1963

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