Results 41 to 50 of about 5,711 (254)

Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families

Molecular Genetics & Genomic Medicine, 2022
Background Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes ...
Cheng Zhou, Pei Wang, Dingquan Yang, Wenjun Liao, Qing Guo, Jiacheng Li, Guangdong Wen, Shuying Zheng, Xue Zhang, Rongrong Wang, Jianzhong Zhang   +10 more
doaj   +1 more source

Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay [PDF]

Pesquisa Veterinária Brasileira, 2023
: Hypotrichosis congenita is a significant disease in Hereford cattle in Uruguay and has been reported worldwide. However, the causal mutation KRT71 has only been recently identified.
Agustín Romero-Benavente, Carolina Briano-Rodriguez, Fernando Dutra-Quintela   +2 more
doaj   +1 more source

Isotretinoin-induced hair growth in a case of hereditary hypotrichosis simplex of the scalp: A promising therapeutic approach [PDF]

JAAD Case Reports
Almuntsrbellah AlMudimeegh, MD, Khalid Nabil Nagshabandi, MD   +1 more
doaj   +2 more sources

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

, 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, Brem, Gottfried, Filler, Serina, Gandolfi, Barbara, Joslin, Shannon EK, Khan, Razib, Lyons, Leslie A   +6 more
core   +1 more source

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.

PLoS Genetics, 2020
Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis ...
Yoichi Wada, Atsuo Kikuchi, Akimune Kaga, Naoki Shimizu, Junya Ito, Ryo Onuma, Fumiyoshi Fujishima, Eriko Totsune, Ryo Sato, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Kota Sato, Toru Nakazawa, Keiko Nakayama, Yoko Aoki, Setsuya Aiba, Kiyotaka Nakagawa, Shigeo Kure   +18 more
doaj   +1 more source

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

, 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, Frieder Hadlich, Jacqueline Knaust, Rosemarie Weikard   +3 more
core   +6 more sources

Despite the hair failing, nails thrive…

Indian Journal of Paediatric Dermatology, 2017
Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth.
Samipa Samir Mukherjee, B S Chandrashekar   +1 more
doaj   +1 more source

Advances of Congenital Alopecia/Hypotrichosis in Genetics Research

罕见病研究, 2023
Congenital alopecia/hypotrichosis is a rare group of monogenic genetic hair disorders characterized by congenital limited or diffuse hair loss and scarcity, without any effective treatment.
CUI Can, CHEN Xi, WEI Aihua
doaj   +1 more source

The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy

Molecular Genetics & Genomic Medicine, 2021
Background Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive inherited disorder caused by biallelic variants in the CDH3 gene encoding P‐cadherin. Here, we report two Japanese sibling patients with HJMD.
Takaaki Hayashi, Satoshi Katagiri, Daiki Kubota, Kei Mizobuchi, Yozo Ishiuji, Akihiko Asahina, Shuhei Kameya, Tadashi Nakano   +7 more
doaj   +1 more source

Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent HRURF Variant

Journal of Cosmetic Dermatology, Volume 24, Issue 8, August 2025.
Can Cui, Xi Chen, Yingzi Zhang, Junpeng Ma, Aihua Wei   +4 more
openalex   +2 more sources