Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa
, 2023 Junctional epidermolysis bullosa (JEB) is a debilitating hereditary skin disorder caused by mutations in genes encoding laminin-332, type XVII collagen (C17), and integrin-α6β4, which maintain stability between the dermis and epidermis. We designed patient-specific Cas9-nuclease- and -nickase-based targeting strategies for reframing a common homozygous
Bischof, Johannes +3 more
openaire +1 more source
β4 integrin subunit is functionally involved in cell adhesion and spreading of Col17a1−/− cells.
, 2014 Col17a1−/− keratinocytes were transduced with empty pLKO vector (mock) and two different shRNA to β4 integrin subunit (β4kd#1 and β4kd#2). A, The cells were lysed and equal amounts of total protein were immunoblotted with indicated antibodies.
Claus-Werner Franzke (185138) +7 more
core +1 more source
Compound Heterozygosity for Novel Splice Site Mutations in the BPAG2/COL17A1 Gene Underlies Generalized Atrophic Benign Epidermolysis Bullosa [PDF]
, 1999 Generalized atrophic benign epidermolysis bullosa, GABEB (OMIM# 226650), is a nonlethal variant of epidermolysis bullosa with autosomal recessive inheritance pattern.
Lin, Lin +5 more
core +1 more source
Contributions of Col17a1 and other genetics to Lamc2jeb/jeb modifier effects.
, 2023 (A-C) ear scores weekly, from 0 (‘unaffected’) to 6 (‘very affected’). (D-F) tail scores using same method. (G-K) tension at various ages. All mice tested are male, Lamc2jeb/jeb homozygotes.
Thomas J. Sproule (16535011) +4 more
core +1 more source
Analyse phénotypique et génotypique de 30 patients ayant une épidermolyse bulleuse héréditaire de type jonctionnelle avec mutations du gène codant pour le collagène XVII, COL17A1 [PDF]
, 2015 IntroductionL’épidermolyse bulleuse héréditaire de type jonctionnelle (JEB) associée à des mutations du gène COL17A1 est une génodermatose rare caractérisée par une fragilité cutanéomuqueuse due à une altération de l'expression du collagène de type XVII,
Hérissé, Anne-Laure
core +1 more source
A schematic model of the migratory phenotype of Col17a1−/− keratinocytes.
, 2014 In wild type cells the endodomain of ColXVII binds to the intracellular domain of the β4 integrin subunit. In Col17a1−/− keratinocytes, the genetic ablation of ColXVII leads to increased expression and phosphorylation (S1356) of the β4 subunit and to ...
Claus-Werner Franzke (185138) +7 more
core +1 more source
Data in Brief, 2018 This data article provides gene expression profiles, determined by using real-time PCR, of fibroblasts and keratinocytes treated with 0.01% and 0.001% extracts of neem plant (Azadirachta indica), local name “Kohomba” in Sri Lanka, harvested in Sri Lanka.
Takao Someya +5 more
doaj +1 more source
Cornea, 2018 Purpose: To report the identification of the collagen, type XVII, alpha 1 (COL17A1) c.3156C>T mutation associated with epithelial recurrent erosion dystrophy (ERED) in a Thai family.
F. Vahedi +4 more
semanticscholar +1 more source
OncoTarget, 2017 Collagen XVII expression has recently been demonstrated to be correlated with the tumor malignance. While Collagen XVII is known to be widely distributed in neurons of the human brain, its precise role in pathogenesis of glioblastoma multiforme (GBM) is ...
Xiaoyan Yan +12 more
semanticscholar +1 more source
Dab2 (Disabled-2), an adaptor protein, regulates self-renewal of hair follicle stem cells
Communications BiologyDisabled 2 (Dab2), an adaptor protein, is up regulated in the hair follicle stem cells (HFSCs); however, its role in any tissue stem cells has not been studied.
Sayoni Roy +4 more
doaj +1 more source