Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure-Reference-Cited by-同舟云学术

Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure

Published:2018-12 Issue: Volume:478 Page:133-140
ISSN:0303-7207
Container-title:Molecular and Cellular Endocrinology
language:en
Short-container-title:Molecular and Cellular Endocrinology

Author:

Yu Tingting,Chang Guoying,Cheng Qing,Yao Ruen,Li Juan,Xu Yufei,Li Guoqiang,Ding Yu,Qing Yanrong,Li Niu^ORCID,Shen Yiping,Wang Xiumin,Wang Jian^ORCID

Funder

Shanghai Pujiang Talent Program

National Natural Science Foundation of China

Shanghai Municipal Science and Technology Commission

Shanghai Municipal Education Commission-Gaofeng Clinical Medicine

Publisher

Elsevier BV

Subject

Endocrinology,Molecular Biology,Biochemistry

Reference33 articles.

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2. Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances;Alatzoglou;Endocr. Rev.,2014

3. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects;Bauters;Am. J. Med. Genet. A.,2014

4. X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions;Burkitt Wright;Clin. Dysmorphol.,2009

5. Combined pituitary hormone deficiency: current and future status;Castinetti;J. Endocrinol. Invest.,2015

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2. Case Report: A Novel Point Mutation of SOX3 in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability;Frontiers in Endocrinology;2022-02-28

3. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum;Genes;2021-07-25

4. Congenital hypopituitarism in two brothers with a duplication of the ‘acrogigantism gene’ GPR101: clinical findings and review of the literature;Pituitary;2020-11-13

5. Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature Review;Hormone Research in Paediatrics;2019