A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-007-0344-0.pdf
Reference35 articles.
1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97–101
2. Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM (1998) Alopecia universalis associated with a mutation in the human hairless gene. Science 279:720–724
3. Aslam M, Chahrour MH, Razzaq A, Haque S, Yan K, Leal SM, Ahmad W (2004) A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3. J Med Genet 41:849–852
4. Balazs L, Okolicany J, Ferrebbe M, Tolley B, Tigyi G (2001) Topical application of the phospholipids growth factor lysophosphatidic acid promotes wound healing in vivo. Am J Physiol Regul Integr Comp Physiol 280:R466-R472
5. Cottingham RW Jr, Jonasson K, Frigge ML, Kong A (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252–263
Cited by 59 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Mode of inheritance for hypotrichosis in families of Sahiwal Division, Punjab, Pakistan;Biomedical Letters;2022-01-28
2. Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies;Journal of the European Academy of Dermatology and Venereology;2021-06-04
3. Druggable Lysophospholipid Signaling Pathways;Druggable Lipid Signaling Pathways;2020
4. Ectodermal Dysplasias;Harper's Textbook of Pediatric Dermatology;2019-11-20
5. Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT);Mutagenesis;2017-11
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3