Results 31 to 40 of about 8,285 (255)

A novel pathogenic CDH3 variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report

open access: yesCold Spring Harbor molecular case studies, 2022
Heredity hypotrichosis simplex (HHS) is a rare nonsyndromic disease form of hypotrichosis simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. The differential diagnosis of
Ayat Kadhi   +4 more
semanticscholar   +1 more source

Histopathology of Hypotrichosis in Calves [PDF]

open access: yesAustralian Journal of Biological Sciences, 1967
The histopathology of the skin in hypotrichosis has been studied for a Jersey calf and comparisons made with normal skin. Other abnormalities of the hair follicle have been described in a Hereford mutant.
A V, Schleger   +2 more
openaire   +2 more sources

Chromosomal assignment of the ovine hairless (hr) gene by fluorescence in situ hybridization. [PDF]

open access: yes, 2008
Congenital hypotrichosis in mammalian species consists of partial or complete absence of a hair coat at birth. Affected individuals having a partial hair coat at birth may loose it subsequently.The aim of this paper was to physically map the ovine hr
Budelli E   +6 more
core   +1 more source

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles

open access: yesFrontiers in Genetics, 2022
Background: Hypotrichosis with Recurrent Skin Vesicles (HYPTSV) is an extremely rare condition, having autosomal recessive inheritance. Here in we report a 4-years- old Saudi boy who presented with a history of recurrent skin blisters that are localized ...
K. A. Al Hawsawi   +9 more
semanticscholar   +1 more source

A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. [PDF]

open access: yes, 2013
One of the salient features of the domestic cat is the aesthetics of its fur. The Selkirk Rex breed is defined by an autosomal dominant woolly rexoid hair (ADWH) abnormality that is characterized by tightly curled hair shafts.
Alhaddad, Hasan   +6 more
core   +1 more source

Epistatic interactions between at least three loci determine the “rat-tail” phenotype in cattle [PDF]

open access: yes, 2016
BACKGROUND: The “rat-tail” syndrome (RTS) is an inherited hypotrichosis in cattle, which is exclusively expressed in diluted coloured hair. The affected animals also suffer from disturbed thermoregulation, which impairs their health and growth ...
Christa Kuehn   +3 more
core   +6 more sources

X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA

open access: yesAnimals, 2021
X-linked hypohidrotic ectodermal dysplasia-1 (ECTD1) in people results in a spectrum of abnormalities, most importantly hypotrichosis, anodontia/oligodontia, and absent or defective ectodermally derived glands. Five Red Angus-Simmental calves born over a
Donal O’Toole   +7 more
doaj   +1 more source

A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle

open access: yesGenes, 2021
Genodermatoses, such as heritable skin disorders, mostly represent Mendelian conditions. Congenital hypotrichosis (HY) characterize a condition of being born with less hair than normal.
J. Jacinto   +6 more
semanticscholar   +1 more source

Effect of hairless gene polymorphism on the breeding values of milk production traits in Valle del Belice sheep [PDF]

open access: yes, 2013
The aim of this work was to assess the association between the hairless genotypes and estimated breeding values (EBVs) for milk yield (MY), fat (FAT) and protein (PRT) content in Valle del Belice dairy sheep breed.
MASTRANGELO, Salvatore   +3 more
core   +1 more source

Orodental findings in Hallermann-Streiff syndrome

open access: yesIndian Journal of Dental Research, 2012
Hallermann-Streiff syndrome-also called occulomandibulofacial syndrome, Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome I, and Ullrich-Fremery-Dohna syndrome-is a rare genetic disorder, which comprisesmultiple congenital ...
Shilpa Parikh, Swati Gupta
doaj   +1 more source

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