PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Published:2020-11-27 Issue:2 Volume:99 Page:313-317
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Tremblay‐Laganière Camille¹,Kaiyrzhanov Rauan²,Maroofian Reza²,Nguyen Thi Tuyet Mai¹^ORCID,Salayev Kamran³,Chilton Ilana T.⁴,Chung Wendy K.⁴⁵,Madden Jill A.⁶,Phornphutkul Chanika⁷,Agrawal Pankaj B.⁶⁸,Houlden Henry²,Campeau Philippe M.¹^ORCID

Affiliation:

1. Department of Pediatrics CHU Sainte‐Justine Montreal QC Canada

2. Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery London UK

3. Department of Neurology Azerbaijan Medical University Baku Azerbaijan

4. Departments of Pediatrics Columbia University Irving Medical Center New York NY USA

5. Department of Medicine Columbia University Irving Medical Center New York NY USA

6. Division of Genetics and Genomics Manton Center for Orphan Disease Research, Boston Children's Hospital Boston MA USA

7. Departments of Pediatric and Pathology The Warren Alpert Medical School of Brown University Providence RI USA

8. Division of Newborn Medicine Boston Children's Hospital Boston MA USA

Funder

Canadian Institutes of Health Research

Fonds de Recherche du Québec - Santé

JPB Foundation

Simons Foundation Autism Research Initiative

Wellcome Trust

UCLH Biomedical Research Centre

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13877

Reference12 articles.

1. Thematic Review Series: Glycosylphosphatidylinositol (GPI) Anchors: Biochemistry and Cell Biology Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling

2. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

3. Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

4. Ynl038wp (Gpi15p) is theSaccharomyces cerevisiae homologue of human Pig-Hp and participates in the first step in glycosylphosphatidylinositol assembly

5. A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

Cited by 6 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. EROS is a selective chaperone regulating the phagocyte NADPH oxidase and purinergic signalling;eLife;2022-11-24

2. Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination;Clinical Dysmorphology;2022-04-19

3. Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review;Frontiers in Neurology;2022-01-04

4. Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction;Blood;2021-12-07

5. A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects;Bone;2021-12

同舟云学术

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