Results 91 to 100 of about 4,117 (196)

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

Acta Dermato-Venereologica, 2020
Dystrophic epidermolysis bullosa is an inherited skin disorder characterized by fragile skin that is prone to blistering. We report here a consanguineous Pakistani family with two siblings, in whom a severe recessive dystrophic epidermolysis bullosa was ...
Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal urRehman, Muhammad Naeem, Abdul Samad Tareen, Sabrina Wolf, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Fölster-Holst, Sulman Basit, Muhammad Ayub, Regina C. Betz   +14 more
doaj   +1 more source

Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa [PDF]

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications ...
Yubero, María Joao, Palisson, Francis, Hovhannesyan, Kristine, Leclerc-Mercier, Stephanie, Kostandyan, Natella, Fuentes, Ignacia, Gasparyan, Artyom, Hovhannesyan, Kristina, Hovnanian, Alain, Pironon, Nathalie, Duchatelet, Sabine, Sarkisian, Tamara, Titeux, Matthias   +12 more
core   +1 more source

A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa [PDF]

Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of an inherited skin disorder. RDEB segregates both in an autosomal dominant as well as in an autosomal recessive pattern.
Naeem, M., Khaliq, S., Wali, A., Ayub, M., Hassan, N., Rehman, F.U., Khan, K., Basit, S., Xiong, X., Altmüller, J., Motameny, S., Uddin, S.A., Betz, R., Anwer, S.   +13 more
core   +1 more source

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene [PDF]

, 1997
Dystrophic epidermolysis bullosa (EBD) is a clinically heterogeneous skin disorder, characterized by abnormal anchoring fibrils (AF) and loss of dermal-epidermal adherence.
Winberg, J
core   +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 [PDF]

, 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

Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.

PLoS ONE
Recessive dystrophic epidermolysis bullosa is a rare genodermatosis caused by a mutation of the Col7a1 gene. The Col7a1 gene codes for collagen type VII protein, a major component of anchoring fibrils.
William Stone, Chloe Strege, William Miller, Aron M Geurts, Michael Grzybowski, Megan Riddle, Christopher Lees, Cindy Eide, Douglas R Keene, Sara F Tufa, Davis Seelig, John McGrath, Jakub Tolar   +12 more
doaj   +1 more source

Epidermólise bolhosa distrófica pruriginosa: relato de caso Epidermolysis bullosa pruriginosa: case report

Anais Brasileiros de Dermatologia, 2005
A epidermólise bolhosa distrófica pruriginosa é doença genética rara cujo padrão de herança ainda não está bem estabelecido na literatura. O defeito genético, que envolve a codificação do colágeno tipo VII, está localizado no braço curto do cromossomo 3,
Márcio José Silva de Souza, Carla Andréa Avelar Pires, Karine Keila de Sousa Vieira, Mario Fernando R. de Miranda, Deborah Aben-Athar Unger   +4 more
doaj   +1 more source

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

, 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

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

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