AI Chat Paper
Note: Please note that the following content is generated by AMiner AI. SciOpen does not take any responsibility related to this content.
{{lang === 'zh_CN' ? '文章概述' : 'Summary'}}
{{lang === 'en_US' ? '中' : 'Eng'}}
Chat more with AI
Powered by AMiner. Clicking this button will take you away from SciOpen.
Home Genes & Diseases Article
PDF (3.2 MB)
Cite
EndNote(RIS) BibTeX
Collect
Submit Manuscript AI Chat Paper
Show Outline
Outline
Show full outline
Hide outline
Outline
Show full outline
Hide outline
Rapid Communication | Open Access

Identification and functional characterization of a novel nonsense mutation of CASR gene in a familial hypocalciuric hypercalcemia pedigree

Yang Tiana,b,d, Bingyang Liub,d, Yang Xudanc, Ruojun Qiub, Zhang Shaojuna, Huang Haoshua, Wu Fangb( ), Fenping Zhengb( )
Department of Endocrinology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, N1 ShangCheng Road, Yiwu, Zhejiang 322000, China
Department of Endocrinology, The Affiliated Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, 3 East QingChun Rd, Hangzhou, Zhejiang 310016, China
Department of Respiratory and Critical Care Medicine, The Fourth Affiliated Hospital, School of Medicine, Zhejiang University, N1 ShangCheng Road, Yiwu, Zhejiang 322000, China

d These authors contributed equally to this work.

Peer review under the responsibility of Chongqing Medical University.

Show Author Information

References

【1】
【1】
 
 
Crossref Google Scholar
Genes & Diseases
Volume 13 Issue 3,
May 2026
DOI: 10.1016/j.gendis.2025.101781

{{item.num}}

Comments on this article

Go to comment

< Back to all reports

Review Status: {{reviewData.commendedNum}} Commended , {{reviewData.revisionRequiredNum}} Revision Required , {{reviewData.notCommendedNum}} Not Commended Under Peer Review

Review Comment

Cite this Report
Close
Close
Cite this article:
Tian Y, Liu B, Xudan Y, et al. Identification and functional characterization of a novel nonsense mutation of CASR gene in a familial hypocalciuric hypercalcemia pedigree. Genes & Diseases, 2026, 13(3). https://doi.org/10.1016/j.gendis.2025.101781

391

Views

1

Downloads

0

Crossref

0

Web of Science

0

Scopus

0

CSCD
Received: 03 March 2025
Published: 25 July 2025
© 2025 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).