Results 171 to 180 of about 4,117 (196)

The COL7A1 mutation database

Human Mutation, 2011
Dystrophic Epidermolysis Bullosa (DEB) is a genetic disease caused by mutations in the COL7A1 gene that is inherited in the autosomal dominant or recessive mode. We have developed a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and unpublished sequence variants of the gene.
Wertheim-Tysarowska, Katarzyna, Sobczyńska-Tomaszewska, Agnieszka, Cezary Kowalewski, Skroński, Michał, Święćkowski, Grzegorz, Kutkowska-Kaźmierczak, Anna, Katarzyna Woźniak, Bal, Jerzy   +7 more
openaire   +2 more sources

Exclusion of COL7A1 mutation in Kindler syndrome

Journal of the American Academy of Dermatology, 2002
We describe a patient with Kindler syndrome with an 18-year follow-up who was initially misdiagnosed as suffering from dystrophic epidermolysis bullosa. The patient's skin showed broad reticulate labeling for collagen VII and reduplication of the lamina densa. Screening of this patient's DNA excluded any pathogenic COL7A1 mutations.
Yasukawa, K., Sato Matsumura, K. C., McMillan, J. R., Tsuchiya, K., Shimizu, H.   +4 more
openaire   +5 more sources

Novel and recurrent COL7A1 mutation in a Polish population

European Journal of Dermatology, 2012
Dystrophic Epidermolysis Bullosa (DEB) is a rare bullous genodermatosis caused by mutations in COL7A1, which encodes collagen type VII, the main component of anchoring fibrilis. DEB is inherited in an autosomal recessive and dominant manner, depending on the mutation type and localization.
Katarzyna, Wertheim-Tysarowska, Agnieszka, Sobczyńska-Tomaszewska, Cezary, Kowalewski, Anna, Kutkowska-Kaźmierczak, Katarzyna, Woźniak, Katarzyna, Niepokój, Alfred, Klausegger, Joanna, Sypniewska-Jutkiewicz, Anna, Stępień, Jerzy, Bal   +9 more
openaire   +2 more sources

Clinical significance of LAMB3 and COL7A1 mRNA in esophageal squamous cell carcinoma

European Journal of Surgical Oncology, 2009
LAMB3 and COL7A1 genes code for the laminin-5beta3 chain and type VII collagen, respectively. They constitute the major components of the basement membrane zone. The aim of the current study was to clarify the clinical significance of LAMB3 and COL7A1 mRNA expression in esophageal squamous cell carcinoma (ESC).We quantitated the expression of LAMB3 ...
N Haraguchi, T Aikou
exaly   +3 more sources

A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa

Clinical Laboratory, 2017
Epidermolysis bullosa pruriginosa (DEB-Pr) is a rare disease caused by mutations in the collagen, type VII, alpha 1 (COL7A1) gene. Here, we identified a novel COL7A1 mutation in a Chinese family with DEB-Pr.Blood samples were obtained from 4 affected individuals of the 16-member family for isolation of genomic DNA.
Ning, Wu, Liang, Jin, Gang, Wang
openaire   +2 more sources

Bart’s Syndrome with Novel Frameshift Mutations in theCOL7A1Gene

Fetal and Pediatric Pathology, 2018
Bart's syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently.A full-term female neonate had well-demarcated absence of skin on both legs at birth, with blisters and erosive patches developing immediately after birth.
Young Mi Han, Narae Lee, Shin Yun Byun, Sang-Jin Cheon, Hyun-Chang Ko   +4 more
openaire   +2 more sources

COL7A1 and Its Role in Dystrophic Epidermolysis Bullosa

2015
Type VII collagen is the major component of the anchoring fibrils (AF) that anchor the basal lamina to the dermal collagen fibrils. It is encoded by the collagen VII gene (COL7A1). Dystrophic epidermolysis bullosa (DEB) is an inherited skin fragility disorder, and blistering occurs in the sub-lamina densa zone at the level of AF.
Ningning Dang, Dédée F. Murrell
openaire   +1 more source

[Variation of COL7A1 gene in dystrophic epidermolysis bullosa pruriginosa].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
To perform gene mutation analysis in a Chinese pedigree with dystrophic epidermolysis bullosa pruriginosa (DEB-Pr), and explore phetotype, genotype, and genotypes-phenotypes relationship of DEB-Pr.Potential variants of the COL7A1 gene were detected by skin targeted sequencing panel and verified by Sanger sequencing.
Yi, Shao, Jianbo, Wang, Shasha, Zhang, Jinfa, Dou, Chen, Wang, Shoumin, Zhang, Zhenlu, Li   +6 more
openaire   +1 more source

Localization of the human collagen gene COL7A1 to 3p21.3 by fluorescence in situ hybridization

Cytogenetics and Cell Genetics, 2008
An 8-kb genomic probe, containing 34 collagen-encoding exons, was localized to 3p21.3 by fluorescence in situ hybridization. The genomic probe encoded a previously uncharacterized carboxyl terminal portion of the αl(VII) collagen chain.This mapping result confirms the previous assignment of the αl(VII) gene (COL7A1) to 3p21 and offers a finer ...
D S, Greenspan, M G, Byers, R L, Eddy, G G, Hoffman, T B, Shows   +4 more
openaire   +2 more sources

A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature

Journal of Cosmetic Dermatology, 2019
AbstractBackgroundPretibial dystrophic epidermolysis bullosa (DEB‐Pt) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering and scar formation. The pathogenesis of the disease is mainly due to the mutation of COL7A1 gene encoding type VII collagen fibers, resulting in the destruction of the anchoring ...
Ling Jin, Zhi Li, Cong Xin, Lili Tang, Xuejun Zhang, Bo Zhang, Sen Yang   +6 more
openaire   +2 more sources