Results 91 to 100 of about 3,777 (193)

A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene

Annals of Dermatology, 2022
Yuri Shimizu, Yorihisa Kotobuki, Noriko Arase, Hisashi Arase, Ichiro Katayama, Manabu Fujimoto   +5 more
openaire   +2 more sources

Issue Information

JEADV Clinical Practice, Volume 5, Issue 2, Page 351-356, June 2026.
wiley   +1 more source

Integrative Machine Learning and Bioinformatics Approach for Identifying Key Biomarkers in Gallbladder Cancer Diagnosis and Progression

IET Systems Biology
Gallbladder cancer (GBC) is the most common biliary tract neoplasm. Identifying biomarkers for GBC initiation and progression remains a challenge. This study aimed to identify GBC biomarkers using machine learning and bioinformatics.
Rabea Khatun, Wahia Tasnim, Maksuda Akter, Md. Manowarul Islam, Md. Ashraf Uddin, Saurav Chandra Das, Md. Zulfiker Mahmud   +6 more
doaj   +1 more source

Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation

, 1997
SummaryWe have characterized 21 mutations in the type VII collagen gene (COL7A1) encoding the anchoring fibrils, 18 of which were not previously reported, in patients from 15 unrelated families with recessive dystrophic epidermolysis bullosa (RDEB ...
Rochat, Ariane, Christiano, Angela M., Barrandon, Yann, Prost, C., Uitto, J., Rivers, Caroline A., Prost, Catherine, Petit, Elisabeth, Bodemer, Christine, Rivers, C. A., Lathrop, M., Rochat, A., Prost, Yves de, Barrandon, Y., Fraitag, S., Lathrop, Mark, Hovnanian, A., Bodemer, C., Hovnanian, Alain, Uitto, Jouni, de Prost, Y., Petit, E., Fraitag, Sylvie, Christiano, A. M.   +23 more
core   +1 more source

Integrative multi-omics and causal inference unveil novel therapeutic targets for primary sclerosing cholangitis and its genetic comorbidity with inflammatory bowel disease

npj Gut and Liver
Primary sclerosing cholangitis (PSC), a progressive liver disease with limited treatment options, exhibits frequent comorbidity with inflammatory bowel disease (IBD), yet shared therapeutic targets remain unexplored.
Wanzhe Liao, Haobin Zhou, Zhuofeng Wen, Weixuan Liang, Chongde Pan, Zhiyi Zhou, Jingzhang Sun, Chang Liu, Xiangdong Zhou, Qi Li, Naijun Yuan, Chuiguo Huang   +11 more
doaj   +1 more source

A Novel Missense Mutation in the Col7a1 Gene Underlies Epidermolysis Bullosa Pruriginosa

, 2008
Epidermolysis bullosa (EB) pruriginosa is a subtype of dominant dystrophic EB (DDEB), characterized by severe pruritus and blistering localized to the extensor surface of the extremities.
Chuang, G. S.; Martinez-Mir, A.; Yu, H.-S.; Sung, F.-Y.; Chuang, R. Y.; Cserhalmi-Friedman, P. B.; Christiano, A. M., 余幸司;宋奉宜   +1 more
core  

A Common Insertion Mutation in COL7A1 in Two Italian Families With Recessive Dystrophic Epidermolysis Bullosa

, 1996
Recessive dystrophic epidermolysis bullosa is ultrastructurally characterized by the absence of anchoring fibrils, and genetic analyses have revealed that recessive dystrophic epidermolysis bullosa results from mutations in the type VII collagen gene ...
Christiano, Angela M., Uitto, Jouni, Paradisi, Mauro, Mazzanti, Cinzia, Puddu, Pietro, D'Alessio, Marina, Angelo, Corrado   +6 more
core   +1 more source

Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)

, 1999
A 12 y old girl with the albopapuloid variant (Pasini) of dominant dystrophic epidermolysis bullosa is studied. The albopapuloid lesions developed within the first year of life, contained milia and were associated with pruritus. Mutation detection of the
Pulkkinen, L, Uitto, J, Moreno, G, Oranje, AP, Rouan, F, Jonkman, MF, Oranje, Arnold   +6 more
core   +1 more source

COL7A1 Gene [PDF]

, 2020
openaire   +1 more source

185 CRISPR/Cas9 mediated gene correction of COL7A1 [PDF]

Journal of Investigative Dermatology, 2017
S. Hainzl, P. Peking, T. Kocher, E.M. Murauer, F. Larcher, M del Río, B.G. Duarte, M. Steiner, A. Klausegger, J.W. Bauer, J. Reichelt, U. Koller   +11 more
openaire   +1 more source