Results 171 to 180 of about 3,777 (193)

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, Takashi 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

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

[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

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

Épidermolyse bulleuse héréditaire dystrophique par hétérozygotie composite COL7A1

Annales de Dermatologie et de Vénéréologie, 2015
Resume Introduction L’epidermolyse bulleuse dystrophique est une genodermatose caracterisee par un clivage sous-epidermique induit par des anomalies des fibrilles d’ancrage secondaires a des mutations du gene codant le collagene VII (COL7A1).
A. Abdou, L. Daoui, A. Charlesworth, C. Chiaverini, M.-P. Algros, E. Puzenat, C. Chantegret, P. Vabres, J.-P. Lacour, F. Aubin   +9 more
openaire   +1 more source

Previously Unreported COL7A1 Mutation in a Somali Patient with Dystrophic Epidermolysis Bullosa.

Molecular syndromology, 2020
Epidermolysis bullosa (EB) encompasses a group of inheritable skin disorders characterized by various degrees of epithelial fragility that lead to cutaneous and mucosal blistering following negligible mechanical traumas. These disorders are clinically and genetically heterogeneous, ranging from mild skin involvement to severe disabling conditions with ...
Venti, Valeria, Scalia, Bruna, Sauna, Alessandra, Nasca, Maria Rita, Smilari, Pierluigi, Praticò, Andrea D., Fiumara, Agata, Pappalardo, Xena G., Pavone, Piero   +8 more
openaire   +2 more sources

[Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family].

Zhonghua yi xue za zhi, 2002
To identify gene mutation of a epidermolysis bullosa pruriginosa family.Polymerase chain reaction (PCR), DNA sequencing, multiplex PCR using allele-specific oligonucleotide primers.A G6100A transition of COL7A1 was found in patients, resulting in G2034R substitution in type VII collagen.
X, Chen, G, Li, X, Zhu
openaire   +1 more source