Results 71 to 80 of about 4,210 (234)
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome [PDF]
, 2015 Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor
Brena, Michela +7 more
core +1 more source
Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis
Veterinary Dermatology, Volume 36, Issue 3, Page 314-320, June 2025.Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann +7 more
wiley +1 more source
The esterolytic activity of epidermolytic toxins [PDF]
Biochemical Journal, 1992 The two epidermolytic toxins were shown to have intrinsic N-t-butyloxycarbonyl-L-glutamic acid alpha-phenyl esterase activity. The activity was dependent on free toxin pKa values of 6.6 and 6.8 for ETA and ETB respectively. ETB incorporated 0.97 mol of radiolabelled di-isopropyl phosphorofluoridate/mol of protein with loss of esterolytic and ...
M B Redpath, C J Bailey
openaire +3 more sources
, 2005 Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Protonotarios, Nikos +1 more
core +2 more sources
I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
core +3 more sources
A global perspective of arrhythmogenic right ventricular cardiomyopathy. [PDF]
, 2012 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive inherited heart disease characterized by ventricular arrhythmias and sudden cardiac death especially in the young. ARVC has been traditionally associated with the Mediterranean basin,
Alhashemi, M +3 more
core +1 more source
Anais Brasileiros de Dermatologia, 2011 A hiperceratose epidermolítica é uma forma de ictiose geralmente resistente a tratamentos tópicos. Relata-se um caso de paciente feminina , em acompanhamento na dermatologia desde 1978, com diagnóstico de hiperceratose epidermolítica.
Priscila Wolf Nassif +4 more
doaj +1 more source
The structure of the Gemella haemolysans M26 IgA1 protease trypsin‐like domain
Acta Crystallographica Section F, Volume 81, Issue 4, Page 124-129, April 2025.The 1.75 Å resolution structure of the G. haemolysans M26 IgA1 protease trypsin‐like domain is presented. The structural data suggest that the domain exists in an inactive pro‐enzyme‐like state when in the context of the full‐length protein. This putative pro‐enzyme may be activated after being N‐terminally excised from the larger M26 enzyme structure ...
Norman Tran +3 more
wiley +1 more source
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis [PDF]
, 2017 Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating ...
Arin, Meral J. +8 more
core
Epidemiology of epidermolysis bullosa in the antipodes: The Australasian epidermolysis bullosa registry with a focus on Herlitz junctional epidermolysis bullosa [PDF]
, 2010 To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. Design: Observational study (cross-sectional and longitudinal).
Hogan, Peter +8 more
core +1 more source