Results 11 to 20 of about 2,814 (184)

Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta

Journal of Personalized Medicine, 2023
Hereditary conditions that affect tooth enamel in quantity and/or quality are called amelogenesis imperfecta (AI). AI can occur as an isolated condition or as a symptom of a syndrome. An OMIM search with the term “AI” yielded 79 result entries. Mutations
Jung-Wook Kim, Youn Jung Kim
exaly   +5 more sources

Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa [PDF]

Genes, 2023
Epidermolysis bullosa (EB), characterized by defective adhesion of the epidermis to the dermis, is a heterogeneous disease with many subtypes in human patients and domestic animals. We investigated two unrelated cats with recurring erosions and ulcers on
S. Kiener, Heather Troyer, Daniel Ruvolo, P. Grest, S. Soto, A. Letko, V. Jagannathan, T. Leeb, E. Mauldin, Ching Yang, A. Rostaher   +10 more
semanticscholar   +9 more sources

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa [PDF]

Molecular Therapy, 2022
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.
J. Bischof, O. March, B. Liemberger, S. Haas, S. Hainzl, I. Petkovic, V. Leb-Reichl, J. Illmer, Evgeniia Korotchenko, A. Klausegger, Anna Hoog, H. Binder, Marta García, B. Duarte, D. Strunk, F. Larcher, J. Reichelt, C. Guttmann-Gruber, V. Wally, J. P. Hofbauer, J. Bauer, T. Cathomen, T. Kocher, U. Koller   +23 more
semanticscholar   +6 more sources

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta [PDF]

Journal of Medical Genetics, 2023
Background Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta
U. Hany, C. Watson, Lu Liu, Claire E. L. Smith, A. Harfoush, J. Poulter, G. Nikolopoulos, R. Balmer, C. Brown, Anesha Patel, J. Simmonds, R. Charlton, María Gabriela Acosta de Camargo, H. Rodd, H. Jafri, A. Antanaviciute, M. Moffat, M. Al-Jawad, C. Inglehearn, A. Mighell   +19 more
semanticscholar   +7 more sources

A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa

Acta Dermato-Venereologica, 2019
Type XVII collagen is a type II transmembrane protein present in specialized adhesion structures, the hemidesmosomes, which anchor the intermediate filaments to the cell membrane and to the underlying basement membrane.
Julia Hoffmann, Federica Casetti, Antonia Reimer, Juna Leppert, Gabriele Grüninger, Cristina Has   +5 more
doaj   +7 more sources

The CD44/COL17A1 pathway promotes the formation of multilayered, transformed epithelia

Current Biology, 2021
At the early stage of cancer development, oncogenic mutations often cause multilayered epithelial structures. However, the underlying molecular mechanism still remains enigmatic. By performing a series of screenings targeting plasma membrane proteins, we
Takahiro Ito, Tomoyoshi Soga, Makoto Tsunoda   +2 more
exaly   +5 more sources

EGFR-mediated epidermal stem cell motility drives skin regeneration through COL17A1 proteolysis

Journal of Cell Biology, 2021
Nanba et al. demonstrate that the age-dependent decline of EGFR signaling impairs epidermal stem cell motility and reepithelialization through COL17A1 proteolysis.
Koji Sayama, Ken Shiraishi, Daisuke Nanba   +2 more
exaly   +4 more sources

Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation.

Journal of Investigative Dermatology
The read-through therapy suppresses premature termination codons and induces read-through activity consequently restoring missing proteins. Aminoglycosides are widely studied as read-through drugs in different human genetic disorders including hereditary
S. B. Sayar, C. Has
semanticscholar   +5 more sources

Junctional Epidermolysis Bullosa in Sprague Dawley Rats Caused by a Frameshift Mutation of Col17a1 Gene

Laboratory Investigation
Junctional epidermolysis bullosa (JEB) is an intractable cutaneous disorder in humans causing skin fragility and blistering due to mutations in genes encoding essential molecules adhering epidermis and dermis including collagen XVII.
Hiroaki Aoyama, Toshinori Yoshida, Atsushi Shiga   +2 more
exaly   +4 more sources

A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions [PDF]

Ophthalmology, 2016
Purpose Corneal dystrophies are a genetically heterogeneous group of disorders. We previously described a family with an autosomal dominant epithelial recurrent erosion dystrophy (ERED).
Sherwin T., Oliver V. F., Van Bysterveldt K. A., Steger B., Cadzow M., MacKey D. A., Crosier P. S., McGhee C. N., Romano V., Willoughby C. E., Markie D., Hewitt A. W., Vincent A. L.   +12 more
core   +5 more sources