Identification of a p.Trp403* nonsense variant in PHEX causing X‐linked hypophosphatemia by inhibiting p38 MAPK signaling-Reference-Cited by-同舟云学术

Identification of a p.Trp403* nonsense variant in PHEX causing X‐linked hypophosphatemia by inhibiting p38 MAPK signaling

Published:2019-03-28 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Li Wei¹,Tan Lingfang²,Li Xin²,Zhang Xiaoyu¹,Wu Xiaoyan²,Chen Hongbo²,Hu Lihua³,Wang Xiaobei³,Luo Xiaoping⁴,Wang Fan⁵⁶⁷,Xu Chengqi¹,Chen Qiuyun⁵⁶⁷,Jin Runming²,Wang Qing K.¹⁵⁶⁷^ORCID

Affiliation:

1. Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome ResearchHuazhong University of Science and TechnologyWuhan Hubei China

2. Department of PediatricsUnion Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan Hubei China

3. Department of Clinical LaboratoryTongji Medical College, Huazhong University of Science and TechnologyWuhan China

4. Department of PediatricsTongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyWuhan China

5. Department of Cardiovascular and Metabolic SciencesLerner Research Institute, Cleveland ClinicCleveland Ohio

6. Department of Molecular MedicineCleveland Clinic Lerner College of Medicine of Case Western Reserve UniversityCleveland Ohio

7. Department of Genetics and Genome SciencesCase Western Reserve University School of MedicineCleveland Ohio

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23743

Reference23 articles.

1. Phosphatonin washout inHypmice proximal tubules: evidence for posttranscriptional regulation

2. Role of prostaglandins in the pathogenesis of X-linked hypophosphatemia

3. A clinician's guide to X-linked hypophosphatemia

4. The Nonsense-Mediated Decay RNA Surveillance Pathway

5. cDNA Cloning of the MurinePexGene Implicated in X-Linked Hypophosphatemia and Evidence for Expression in Bone

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