Results 1 to 10 of about 8,285 (255)

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   +2 more sources

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

Human Genomics
Background Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene.
Yujing Zhang, Mengxi Zhao, Xiangqian Li, Yongping Zhao, Yijie Sun, Jianzhong Zhang, Cong Yu, Cheng Zhou   +7 more
doaj   +2 more sources

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

Frontiers in Genetics
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),
Xinyue Zhang, Kexin Guo, Kexin Guo, Jiawei Liu, Xueting Yang, Rui Zhang, Rongrong Wang, Donglai Ma, Xue Zhang   +8 more
doaj   +2 more sources

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

Frontiers in Pediatrics
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 ...
Linlin Bao, Linlin Bao, Qian Li, Zhicao Yue, Fang Yang, Fang Yang   +5 more
doaj   +2 more sources

Hereditary hypotrichosis simplex of the scalp

Indian Journal of Dermatology, 2014
Hereditary hypotrichosis simplex of the scalp is a genetic disorder, characterized by sparse or absent scalp hair without structural defects, in the absence of other ectodermal or systemic abnormalities.
Hamideh Moravvej-Farshi, Azin Ayatollahi, Somayeh Hejazi   +2 more
doaj   +3 more sources

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

Frontiers in Medicine
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.
Ying Xie, Ying Xie, Sha Luo, Yumei Yang, Xin Zou, Shuying Lv, Meijiao Du, Meijiao Du, Yonglong Xu, Yonglong Xu, Xiaojuan Song, Changjie Qi, Nuo Li, Dingquan Yang   +13 more
doaj   +2 more sources

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

Clinical, Cosmetic and Investigational Dermatology
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
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Oral minoxidil treatment for hypotrichosis in Lelis syndrome [PDF]

JAAD Case Reports
Ishan Bhanot, BS, BA, Anuj Kunadia, MD, Anisha Bhanot, MD, Amanda S. Weissman, MD, Benjamin Levin, BS, Jeffrey McBride, MD, PhD, Jarad Levin, MD   +6 more
doaj   +2 more sources

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

Autozygosity Mapping by Genome-wide Single Nucleotide Polymorphism Array Identifies a Novel Homozygous HR Mutation in a Consanguineous Family with Universal Hereditary Hair Loss

International Journal of Dermatology and Venerology, 2021
. Objective:. Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different genes. The conventional mutation detection strategy consists of sequencing of individual candidate genes separately, a time consuming and costly approach ...
Sirous Zeinali, Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamideh Bagherian, Jouni Uitto   +6 more
doaj   +1 more source