Results 1 to 10 of about 3,554 (152)

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   +3 more sources

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

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   +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

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

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia [PDF]

American Journal of Human Genetics, 2003
Alexandre Irrthum, Maurice van Steensel, Miikka Vikkula   +2 more
exaly   +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
doaj   +2 more sources

Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice [PDF]

Journal of Biological Chemistry, 2007
Karin List, Tiffany C Scharschmidt, Roman Szabo   +2 more
exaly   +2 more sources

Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis [PDF]

Journal of Investigative Dermatology, 2006
Yutaka Shimomura
exaly   +2 more sources

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