Results 21 to 30 of about 6,674 (213)

DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case

Вопросы современной педиатрии, 2023
Background. Hypotrichosis is a heritable form of alopecia that causes almost complete scalp hair loss in childhood. The diagnosis is typically established according to medical history and clinical picture.
Nikolay N. Murashkin, Roman V. Epishev, Olesya D. Dubenko, Alexander I. Materikin, Leonid A. Opryatin, Roman A. Ivanov, Alena A. Savelova, Maria A. Leonova   +7 more
doaj   +1 more source

A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China

Frontiers in Physiology, 2023
Aim: Hypotrichosis simplex (MIM 146520) is a rare form of monogenic hereditary alopecia. Several genes have been identified as being associated with the disease, including LPAR6, LIPH, and DSG4.
Bei Zhao, Bei Zhao, Yisi Tang, Wenjing Chen, Huiying Wan, Huiying Wan, Jiyun Yang, Xuejun Chen, Xuejun Chen   +8 more
doaj   +1 more source

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype [PDF]

, 2013
PubMed ID: 23555276This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
A Borriello, A Falchetti, A Mehta, A Ozawa, A Wiestner, A Yoon, Alessandro Quattrone, BG Luukkonen, C Le Sage, Carla Scaroni, CC Spevak, CJ Sherr, CJ Sherr, D Malanga, Daniela Regazzo, Denis Ciato, DR Morris, Elena Pardi, Filomena Cetani, Francesca Boaretto, Franco Mantero, G Beffagna, G Johannes, G Occhi, GC Scheper, Giampaolo Trivellin, Gianluca Occhi, Giuseppe Opocher, IM Chu, J Costa-Guda, J Slingerland, K Wethmar, L Liu, L Quintanilla-Martinez, M Georgitsi, M Kozak, M Kozak, M Kullmann, M Matsui, Marshall S. Horwitz, MD Larrea, ML Crowe, ML Fero, Márta Korbonits, Natalia S. Pellegata, NS Pellegata, P Chomczynski, RV Thakker, S Igreja, S Molatore, S Ye, Sara Bobisse, SE Calvo, Sergio Ferasin, SI Reed, SK Agarwal, U Göpfert, Viktoryia Sidarovich, W Zhou, WK Miskimins, Y Wen   +60 more
core   +6 more sources

Angiopoietin-1, Angiopoietin-2 and Vascular Endothelial Growth Factor Levels in Canine Leishmaniosis. [PDF]

Vet Med Sci
Ang‐1, Ang‐2 and VEGF levels significantly varied in different stages of canine leishmaniosis. ABSTRACT Background Canine leishmaniosis (CanL) is a zoonotic vector–borne disease and is primarily associated with systemic inflammation, endothelial dysfunction and immune dysregulation.
Gultekin G, Malatyali E, Tileklioglu E, Ertabaklar H, Erdogan S, Asici GSE, Oryasin AG, Pasa S, Ural K, Erdogan H, Gultekin M.   +10 more
europepmc   +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

Histopathology of Hypotrichosis in Calves [PDF]

Australian 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, B J, Thompson, R W, Hewetson   +2 more
openaire   +2 more sources

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. [PDF]

, 2016
IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair.
Arno, G, Broadgate, S, Halford, S, Holder, GE, Hull, S, Khan, KN, McKibbin, M, Michaelides, M, Moore, AT, Plagnol, V, Robson, AG, Webster, AR   +11 more
core   +1 more source

Minoxidil a Youth Elixir for Eyebrow Hypotrichosis [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: Eyebrows being prominent feature of the face contributes majorily for aesthetics. Eyebrow hypotrichosis means the reduction or absence of the eyebrow hair. This is associated with negative self-esteem. Minoxidil has been found to act at the
Varsha Gajbhiye, Yeshwant Lamture
doaj   +1 more source

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

, 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, Caroli A, Castiglioni B, FINOCCHIARO, Raffaella, Pagnacco G., PORTOLANO, Baldassare, Van Kaam JBCHM   +6 more
core   +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