Results 1 to 10 of about 7,108 (198)

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, Yisi Tang, Wenjing Chen, Huiying Wan, Jiyun Yang, Xuejun Chen   +5 more
openalex   +3 more sources

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 Ávila Romero, Carolina Briano-Rodriguez, Fernando Dutra   +2 more
openalex   +4 more sources

Complete defect in PA-PLA₁α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous <i>LIPH</i> variant study in a Chinese pedigree. [PDF]

Front Genet
Autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare inherited hair disease. In this study, we report a 31-year-old Chinese female with the characteristic clinical features of woolly hair and hypotrichosis. Through whole-exome sequencing (WES),
Zhang X, Guo K, Liu J, Yang X, Zhang R, Wang R, Ma D, Zhang X.   +7 more
europepmc   +2 more sources

Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report. [PDF]

Front Pediatr
BackgroundLanosterol synthase (LSS) is essential for cholesterol biosynthesis and impacts embryonic development and growth. LSS gene variants have been associated with various conditions such as congenital hypotrichosis and cataracts, but the genotype ...
Bao L, Li Q, Yue Z, Yang F.
europepmc   +2 more sources

A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene. [PDF]

Mol Genet Genomic Med, 2023
Tan Y, Tian H, Mai J, Wang H, Yang M, Liu S.   +5 more
europepmc   +3 more sources

Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review. [PDF]

Hum Genomics
Background Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene.
Zhang Y, Zhao M, Li X, Zhao Y, Sun Y, Zhang J, Yu C, Zhou C.   +7 more
europepmc   +2 more sources

Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report. [PDF]

Front Med (Lausanne)
ObjectiveTo report the clinical characteristics of a case of Autosomal recessive woolly hair/ hypotrichosis(ARWH/HT, OMIM:278150/604379) in a child, analyze and identify the causative gene and mutation site.
Xie Y, Luo S, Yang Y, Zou X, Lv S, Du M, Xu Y, Song X, Qi C, Li N, Yang D.   +10 more
europepmc   +2 more sources

Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity. [PDF]

Clin Cosmet Investig Dermatol
Ahmed H Nouh,1 Fatma M Elgendy,2 Fatma A Gobran,3 Maryna S Zhuravlova4 1Al-Azhar University, Faculty of Medicine, Department of Dermatology, Venereology and Andrology, Cairo, Egypt; 2Ain Shams university, Faculty of medicine, Department of Pathology ...
Nouh AH, Elgendy FM, Gobran FA, Zhuravlova MS.   +3 more
europepmc   +2 more sources

Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF. [PDF]

Pediatr Dermatol
Holm SØ, Graversen L, Simonsen AKW, Blechingberg J, Herlin LK, Rønholt K.   +5 more
europepmc   +3 more sources

Bimatoprost in the treatment of eyelash hypotrichosis

Clinical Ophthalmology, 2010
Simon K LawJules Stein Eye Institute, University of California, Los Angeles, California, USAAbstract: Eyelashes hypotrichosis is a condition indicated by an inadequate amount of eyelashes.
Simon K. Law
openalex   +4 more sources