A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement-Reference-Cited by-同舟云学术

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A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement

Published:2003-01 Issue:1 Volume:78 Page:79-81
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Argente Jesús,Ozisik Gokhan,Pozo Jesús,Teresa Muñoz M,Soriano-Guillén Leandro,Larry Jameson J

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference13 articles.

1. Congenital adrenal hypoplasia and isolated gonadotropin deficiency;Kletter;Trends Endocrinol. Metab.,1991

2. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression;Achermann;J. Clin. Endocrinol. Metab.,2001

3. Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita;Phelan;Hum. Mutat.,2001

4. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay;Achermann;J. Clin. Endocrinol. Metab.,1999

5. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene;Peter;J. Clin. Endocrinol. Metab.,1998

Cited by 15 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. A novel NR0B1 mutation correlated with X-linked adrenal hypoplasia congenital (AHC);Gene Reports;2022-06

2. A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses;European Journal of Medical Genetics;2021-05

3. Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children;Journal of Pediatric Endocrinology and Metabolism;2019-08-27

4. Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita;Journal of the Endocrine Society;2018-12-12

5. Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation – A Case Report and Review of the Literature: Implications for the Pathomechanism;Hormone Research in Paediatrics;2018-12-11

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