Results 21 to 30 of about 7,127 (212)

A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

Clinical Case Reports, 2021
A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
Isa Abdi Rad, Ali Vahabi, Elinaz Akbariazar   +2 more
doaj   +1 more source

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

Animals, 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, Irene M. Häfliger, Fabienne Leuthard, Brant Schumaker, Lynn Steadman, Brian Murphy, Cord Drögemüller, Tosso Leeb   +7 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

Regenerative Potential of Adipose Tissue-Derived Exosomes in Treating Hair Shaft Abnormalities: A Case Report. [PDF]

Case Rep Dermatol Med
Hair shaft abnormalities, often linked to genetic or acquired conditions, present significant treatment challenges with limited and inconsistent therapeutic success. This report describes an eight‐year‐old female with severe hair shaft abnormality, unresponsive to standard treatments, including topical minoxidil and platelet‐rich plasma therapy, who ...
Nilforoushzadeh MA, Heidari A, Heidari N, Nobari NN.   +3 more
europepmc   +2 more sources

Hypotrichosis with keratosis pilaris: a case report and review of literature

Al-Azhar Assiut Medical Journal, 2017
Hypotrichosis or sparse hair is a relatively common feature of several hereditary syndromes. Hypotrichosis with keratosis pilaris is a very rare inborn skin disorder of unknown etiology.
Ayman M Mahran, Aya Y Badran, Asmaa M Ahmad, Mahmoud R Hussein   +3 more
doaj   +1 more source

Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]

Journal of Clinical and Diagnostic Research, 2013
Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam, Venkateswarlu Meduri, Lakshmi Kavitha Nadendla, Namratha Shetty   +3 more
doaj   +1 more source

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

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

In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis

Pharmaceuticals, 2023
Hypotrichosis is an uncommon type of alopecia (hair loss) characterized by coarse scalp hair caused by the reduced or fully terminated activity of the Lipase-H (LIPH) enzyme.
Hamza Ali Khan, Muhammad Umair Asif, Muhammad Khurram Ijaz, Metab Alharbi, Yasir Ali, Faisal Ahmad, Ramsha Azhar, Sajjad Ahmad, Muhammad Irfan, Maryana Javed, Noorulain Naseer, Abdul Aziz   +11 more
doaj   +1 more source

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