Results 31 to 40 of about 4,117 (196)

Novel COL7A1 Mutations in Dystrophic Forms of Epidermolysis Bullosa [PDF]

Journal of Investigative Dermatology, 1998
Mutations in the type VII collagen gene (COL7A1) have been shown to underlie different variants of dystrophic epidermolysis bullosa (DEB). Examination of the genetic database indicates that most of the mutations are family specific, with few recurrent mutations.
Kon, Atsushi, Pulkkinen, Leena, Ishida-Yamamoto, Akemi, Hashimoto, Isao, Uitto, Jouni   +4 more
openaire   +2 more sources

Pharmacophore Based Drug Designing of COL7A1; The Causative Gene of Dystrophic Epidermolysis Bullosa

Bioscientific Review, 2021
Epidermolysis Bullosa (EB) is a rare genetic disorder that causes skin fragility, trauma induced dissociation of the skin and painful wound growth. More than 20 types of genes are involved in causing EB as it is a polygenic disease and each gene is ...
Yasra Fatima, Muhammad Aqib Shabbir, Noor-ul-Ain, Syeda Izma Makhdoom, Hamza Saleem-ur-Rehman, Muhammad Waseem, Khizra Jabeen, Syeda Umme Laila, Amna Shahid, Muhammad Naveed   +9 more
doaj   +1 more source

Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa. [PDF]

PLoS ONE, 2012
Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen - the main component of the anchoring fibrils at the dermal-epidermal ...
Ying Lin, Xue-Jun Chen, Wei Liu, Bo Gong, Jun Xie, Jun-Hao Xiong, Jing Cheng, Xi-Ling Duan, Zhao-Chun Lin, Lu-Lin Huang, Hui-Ying Wan, Xiao-Qi Liu, Lin-Hong Song, Zheng-Lin Yang   +13 more
doaj   +1 more source

Keratinocyte-/Fibroblast-Targeted Rescue of Col7a1-Disrupted Mice and Generation of an Exact Dystrophic Epidermolysis Bullosa Model Using a Human COL7A1 Mutation [PDF]

The American Journal of Pathology, 2009
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe hereditary bullous disease caused by mutations in COL7A1, which encodes type VII collagen (COL7). Col7a1 knockout mice (COL7(m-/-)) exhibit a severe RDEB phenotype and die within a few days after birth.
Kei, Ito, Daisuke, Sawamura, Maki, Goto, Hideki, Nakamura, Wataru, Nishie, Kaori, Sakai, Ken, Natsuga, Satoru, Shinkuma, Akihiko, Shibaki, Jouni, Uitto, Christopher P, Denton, Osamu, Nakajima, Masashi, Akiyama, Hiroshi, Shimizu   +13 more
openaire   +2 more sources

Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genes

Indian Journal of Dermatology, 2022
Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS).
Sunitha Tella, Shehnaz Sultana, Sujatha Madireddy, Pratibha Nallari, Venkateshwari Ananthapur   +4 more
doaj   +1 more source

Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family

Frontiers in Pediatrics, 2022
BackgroundDystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly caused by mutations in the gene encoding type VII collagen (COL7A1).
Yu Wang, Zhen Song, Lihua Zhang, Na Li, Jie Zhao, Ruifang Yang, Shuhua Ji, Ping Sun   +7 more
doaj   +1 more source

A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa

Molecular Therapy: Nucleic Acids, 2021
Gene editing via homology-directed repair (HDR) currently comprises the best strategy to obtain perfect corrections for pathogenic mutations of monogenic diseases, such as the severe recessive dystrophic form of the blistering skin disease epidermolysis ...
Thomas Kocher, Johannes Bischof, Simone Alexandra Haas, Oliver Patrick March, Bernadette Liemberger, Stefan Hainzl, Julia Illmer, Anna Hoog, Katharina Muigg, Heide-Marie Binder, Alfred Klausegger, Dirk Strunk, Johann Wolfgang Bauer, Toni Cathomen, Ulrich Koller   +14 more
doaj   +1 more source

Deficient skin proteins rescue of expression in patients with epidermolysis bullosa: efficacy of gentamicin [PDF]

Vestnik Dermatologii i Venerologii
Epidermolysis bullosa is a group of rare hereditary skin diseases based on mutations in the genes of structural proteins of the epidermis and the dermal-epidermal junction.
Olga G. Artamonova, Arfenya E. Karamova, Alexey A. Kubanov, Vadim V. Chikin, Ekaterina S. Monchakovskaya   +4 more
doaj   +1 more source

Generation of the induced pluripotent stem cell line (ZSPHARi001-A) from a patient with recessive dystrophic epidermolysis bullosa carrying compound heterozygous mutation in the COL7A1 gene

Stem Cell Research, 2022
The COL7A1 gene mutation causes type VII collagen dysfunction, which subsequently leads to recessive dystrophic epidermolysis bullosa (RDEB). Patients who suffer from RDEB experience severe blisters and chronic trauma, which can eventually result in ...
Yeye Zhang, Jun Fan, Guangzhao Lu, Genying Xu, Qianzhou Lv   +4 more
doaj   +1 more source

A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa

Clinical and Experimental Obstetrics & Gynecology, 2020
Epidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment.
Q. Yuan, D. Hu, T.T. Zhu, Q.W. Zhang, Y.H. Gong   +4 more
doaj   +1 more source