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Literature DB >> 23378245

NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.

Aleksandra Rojek¹, Monika Obara-Moszynska, Elzbieta Malecka, Malgorzata Slomko-Jozwiak, Marek Niedziela.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2013 PMID： 23378245 DOI： 10.1007/s13353-013-0135-3

Source DB: PubMed Journal: J Appl Genet ISSN： 1234-1983 Impact factor: 3.240

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26 in total

1. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.

Authors: J C Achermann; M Ito; B L Silverman; R L Habiby; S Pang; A Rosler; J L Jameson
Journal: J Clin Endocrinol Metab Date: 2001-07 Impact factor: 5.958

2. A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita.

Authors: E Lalli; B Bardoni; E Zazopoulos; J M Wurtz; T M Strom; D Moras; P Sassone-Corsi
Journal: Mol Endocrinol Date: 1997-12

3. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.

Authors: A Tabarin; J C Achermann; D Recan; V Bex; X Bertagna; S Christin-Maitre; M Ito; J L Jameson; P Bouchard
Journal: J Clin Invest Date: 2000-02 Impact factor: 14.808

4. Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene.

Authors: S Domenice; A C Latronico; V N Brito; I J Arnhold; F Kok; B B Mendonca
Journal: J Clin Endocrinol Metab Date: 2001-09 Impact factor: 5.958

5. X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.

Authors: M Schwartz; S Blichfeldt; J Müller
Journal: Hum Genet Date: 1997-01 Impact factor: 4.132

6. An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency.

Authors: A A Verrijn Stuart; G Ozisik; M A de Vroede; J C Giltay; R J Sinke; T J Peterson; R M Harris; J Weiss; J L Jameson
Journal: J Clin Endocrinol Metab Date: 2006-12-12 Impact factor: 5.958

7. Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

Authors: J Nakae; S Abe; T Tajima; N Shinohara; M Murashita; Y Igarashi; S Kusuda; J Suzuki; K Fujieda
Journal: J Clin Endocrinol Metab Date: 1997-11 Impact factor: 5.958

Review 8. Molecular mechanisms of DAX1 action.

Authors: Anita K Iyer; Edward R B McCabe
Journal: Mol Genet Metab Date: 2004 Sep-Oct Impact factor: 4.797

9. A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.

Authors: Kah-Yin Loke; Larry Kok-Seng Poh; Warren Wei-Rhen Lee; Poh-San Lai
Journal: Horm Res Date: 2009-04-01

10. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Authors: F Muscatelli; T M Strom; A P Walker; E Zanaria; D Récan; A Meindl; B Bardoni; S Guioli; G Zehetner; W Rabl
Journal: Nature Date: 1994-12-15 Impact factor: 49.962

6 in total

1. A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.

Authors: Shi-Min Wu; Jin-Zhi Gao; Bin He; Wen-Jun Long; Xiao-Ping Luo; Ling Chen
Journal: Curr Med Sci Date: 2020-03-13

Review 2. Genetic regulation of mammalian gonad development.

Authors: Stefanie Eggers; Thomas Ohnesorg; Andrew Sinclair
Journal: Nat Rev Endocrinol Date: 2014-09-23 Impact factor: 43.330

3. Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.

Authors: Małgorzata Kałużna; Bartłomiej Budny; Michał Rabijewski; Jarosław Kałużny; Agnieszka Dubiel; Małgorzata Trofimiuk-Müldner; Elżbieta Wrotkowska; Alicja Hubalewska-Dydejczyk; Marek Ruchała; Katarzyna Ziemnicka
Journal: Genes (Basel) Date: 2021-06-05 Impact factor: 4.096