Results 21 to 30 of about 8,285 (255)

ADAM17 variant causes hair loss via ubiquitin ligase TRIM47–mediated degradation [PDF]

JCI Insight
Hypotrichosis is a genetic disorder characterized by a diffuse and progressive loss of scalp and/or body hair. Nonetheless, the causative genes for several affected individuals remain elusive, and the underlying mechanisms have yet to be fully elucidated.
Xiaoxiao Wang, Chaolan Pan, Luyao Zheng, Jianbo Wang, Quan Zou, Peiyi Sun, Kaili Zhou, Anqi Zhao, Qiaoyu Cao, Wei He, Yumeng Wang, Ruhong Cheng, Zhirong Yao, Si Zhang, Hui Zhang, Ming Li   +15 more
doaj   +2 more sources

Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis

International Journal of Molecular Sciences, 2023
Mutations in the GJA1 gene that encodes connexin43 (Cx43) cause several rare genetic disorders, including diseases affecting the epidermis. Here, we examined the in vitro functional consequences of a Cx43 mutation, Cx43-G38E, linked to a novel human ...
Olivia E. Crouthamel, Leping Li, Michael T. Dilluvio, T. W. White   +3 more
semanticscholar   +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 novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.

Clincal and Experimental Dermatology, 2023
Hypotrichosis 12 (HYPT12) is an autosomal dominant, non-syndromic hypotrichosis caused by a pathogenic variant in the RPL21 gene, encoding ribosomal protein 21, although only two pedigrees harbouring the amino acid substitution, p.Arg32Gln, has been ...
T. Rayinda, S. McSweeney, H. Fassihi, D. Fenton, Lu Liu, C. Stefanato, N. Dand, J. McGrath, C. Tziotzios   +8 more
semanticscholar   +1 more source

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal. [PDF]

Clin Case Rep
ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Pant S, Adhikari D, Pandey P, Bajracharya B, Sharma R.   +4 more
europepmc   +2 more sources

Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors

Dermatologic Therapy, 2022
Dear Editor, Hypotrichosis simplex (HS) is a rare form of hereditary nonsyndromic alopecia characterized by sparse or absent scalp hair, without other ectodermal or systemic abnormalities.
M. Vastarella, F. Martora, S. Ocampo-Garza, A. Patrì, T. Battista, P. Nappa, G. Fabbrocini, M. Cantelli   +7 more
semanticscholar   +1 more source

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

J Cosmet Dermatol
Journal of Cosmetic Dermatology, Volume 24, Issue 8, August 2025.
Cui C, Chen X, Zhang Y, Ma J, Wei A.
europepmc   +2 more sources

Hypotrichosis with juvenile macular dystrophy [PDF]

International Journal of Trichology, 2018
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin.
Almeida, FT, Carneiro-Freitas, R, Caldas, R, Vieira, AP   +3 more
openaire   +3 more sources

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

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