Results 111 to 120 of about 4,117 (196)

Modulation of Disease Severity of Dystrophic Epidermolysis Bullosa By a Splice Site Mutation in Combination with a Missense Mutation in the COL7A1 Gene [PDF]

, 2017
Dystrophic epidermolysis bullosa (EBD) is a clinically heterogeneous skin disorder, characterized by abnormal anchoring fibrils (AF) and loss of dermal-epidermal adherence.
Winberg, Jan-Olof, Zimmermann, Mirjam, Hammami-Hauasli, Nadja, Gedde-Dahl, Tobias, Anton-Lamprecht, Ingrun, Krajci, Peter, Kerbacher, Karen, Nilssen, Øivind, Naylor, Susan L., Bruckner-Tuderman, Leena   +9 more
core  

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature

BMC Pediatrics
Epidermolysis Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary cause of EB.
Fatma Mabrouk Ali, Jieyu Zhou, Mingyan Wang, Qiuxia Wang, Lulu Sun, Mansour Maulid Mshenga, Hongyan Lu   +6 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 pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

BMC Medical Genomics
Dystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120).
Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen   +6 more
doaj   +1 more source

Gene therapy for genodermatoses at the crossroads of innovation and clinical translation. [PDF]

Front Bioeng Biotechnol
Fabrizi A, Valenti M, Zacchino S, Russo K, Baschetti E, De Rosa L, De Luca M.   +6 more
europepmc   +1 more source

Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa [PDF]

Journal of Investigative Dermatology, 2016
Izmiryan, Araksya, Danos, Olivier, Hovnanian, Alain   +2 more
openaire   +2 more sources

Recombinant humanized type VII collagen for skin repair and regeneration: prospects for reconstructing the dermal-epidermal junction. [PDF]

Front Med (Lausanne)
Lin Y, Zheng J, Lan X.
europepmc   +1 more source

CRISPR/Cas9 mediated gene correction of COL7A1 [PDF]

, 2017
openaire   +1 more source

Fragile skin may benefit from decoration. [PDF]

Mol Ther Adv
Järvinen TAH, Liao Y.
europepmc   +1 more source

Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family

Human Genome Variation, 2022
Nguyen Thuy Duong, Luong Thi Lan Anh, Nguyen Huu Sau, Nguyen Bao Anh, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto   +6 more
openaire   +2 more sources