Results 81 to 90 of about 2,415 (163)

KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex. [PDF]

Anim Genet, 2022
Kiener S, Mauldin EA, Jagannathan V, Casal ML, Leeb T.   +4 more
europepmc   +1 more source

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5. [PDF]

Genes (Basel), 2021
Paduano F, Colao E, Grillone T, Vismara MFM, Amato R, Nisticò S, Mignogna C, Dastoli S, Fabiani F, Zucco R, Trapasso F, Perrotti N, Iuliano R.   +12 more
europepmc   +1 more source

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex. [PDF]

Int J Mol Sci, 2021
Evtushenko NA, Beilin AK, Kosykh AV, Vorotelyak EA, Gurskaya NG.   +4 more
europepmc   +1 more source

A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation. [PDF]

Br J Dermatol, 2022
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, van der Meer P, Bolling MC.   +11 more
europepmc   +1 more source

A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex. [PDF]

Orphanet J Rare Dis, 2022
So JY, Fulchand S, Wong CY, Li S, Nazaroff J, Gorell ES, de Souza MP, Murrell DF, Teng JM, Chiou AS, Tang JY.   +10 more
europepmc   +1 more source

Epidermolysis bullosa simplex clearance after nasopharyngeal carcinoma treatment. [PDF]

JAAD Case Rep, 2021
AlKhawajah NM, AlKhawajah MM, Aljomah NA, Alabduljabbar AA, Alkeraye S.   +4 more
europepmc   +1 more source

Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care. [PDF]

Orphanet J Rare Dis, 2021
Marro M, De Smet S, Caldari D, Lambe C, Leclerc-Mercier S, Chiaverini C.   +5 more
europepmc   +1 more source

Damaged Keratin Filament Network Caused by KRT5 Mutations in Localized Recessive Epidermolysis Bullosa Simplex. [PDF]

Front Genet, 2021
Chen F, Yao L, Zhang X, Gu Y, Yu H, Yao Z, Zhang J, Li M.   +7 more
europepmc   +1 more source

Long-term survival in severe epidermolysis bullosa simplex with the potentially fatal <i>KRT5</i> p.Glu477Lys variant. [PDF]

JAAD Case Rep
Rayinda T, Ferronika P, Pungky A, Asifa NN, Danarti R.   +4 more
europepmc   +1 more source

A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex. [PDF]

Ann Dermatol, 2021
Jiang X, Zhu Y, Sun H, Gu F.
europepmc   +1 more source