Familial glucocorticoid deficiency: New genes and mechanisms-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Familial glucocorticoid deficiency: New genes and mechanisms

Published:2013-05 Issue:1-2 Volume:371 Page:195-200
ISSN:0303-7207
Container-title:Molecular and Cellular Endocrinology
language:en
Short-container-title:Molecular and Cellular Endocrinology

Author:

Meimaridou Eirini,Hughes Claire R.,Kowalczyk Julia,Guasti Leonardo,Chapple J. Paul,King Peter J.,Chan Li F.,Clark Adrian J.L.,Metherell Louise A.

Publisher

Elsevier BV

Subject

Endocrinology,Molecular Biology,Biochemistry

Reference32 articles.

1. Familial glucocorticoid deficiency type 2: a case report;Akın;J. Clin. Res. Pediatr. Endocrinol.,2010

2. Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia;Baker;J. Clin. Endocrinol. Metab.,2006

3. Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations;Chan;Eur. J. Endocrinol.,2010

4. Incremental genetic perturbations to MCM2-7 expression and subcellular distribution reveal exquisite sensitivity of mice to DNA replication stress;Chuang;PLoS Genet.,2010

5. The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface;Chung;J. Clin. Endocrinol. Metab.,2008

Cited by 66 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. Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant;European Journal of Endocrinology;2024-08

2. Insuficiencia suprarrenal primaria: casuística de cinco hospitales terciarios;Anales de Pediatría;2024-08

3. Establishment of human induced pluripotent stem cell line SDQLCHi029-A from one Type 1 familial glucocorticoid deficiency patient carrying compound heterozygote mutations in MC2R gene;Stem Cell Research;2024-04

4. ACTH Resistance Syndromes;Genetic Syndromes;2024

5. A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report;Frontiers in Endocrinology;2023-02-24

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