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1988 1
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DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Suntharalingham JP, Buonocore F, Duncan AJ, Achermann JC. Suntharalingham JP, et al. Best Pract Res Clin Endocrinol Metab. 2015 Aug;29(4):607-19. doi: 10.1016/j.beem.2015.07.004. Epub 2015 Jul 14. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 26303087 Free PMC article. Review.
DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita. ...
DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reprod …
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R, Martinez-Aguayo A, Ferraz-de-Souza B, Lin L, Achermann JC. El-Khairi R, et al. Endocr Dev. 2011;20:38-46. doi: 10.1159/000321213. Epub 2010 Dec 16. Endocr Dev. 2011. PMID: 21164257 Review.
DAX-1 mutations are classically associated with X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism and impaired spermatogenesis. ...This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 muta …
DAX-1 mutations are classically associated with X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism an …
Molecular basis of androgen insensitivity.
Brinkmann A, Jenster G, Ris-Stalpers C, van der Korput H, Brüggenwirth H, Boehmer A, Trapman J. Brinkmann A, et al. Steroids. 1996 Apr;61(4):172-5. doi: 10.1016/0039-128x(96)00008-6. Steroids. 1996. PMID: 8732995 Free article. Review.
Androgen action is mediated by the intracellular androgen receptor, which belongs to the superfamily of ligand-dependent transcription factors. In the X-linked androgen insensitivity syndrome, defects in the androgen receptor gene have prevented the normal developme …
Androgen action is mediated by the intracellular androgen receptor, which belongs to the superfamily of ligand-dependent transcription facto …
Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy's Disease).
Finsterer J, Soraru G. Finsterer J, et al. J Mol Neurosci. 2016 Mar;58(3):321-9. doi: 10.1007/s12031-015-0663-x. Epub 2015 Oct 19. J Mol Neurosci. 2016. PMID: 26482145 Review.
However, there is increasing evidence that SBMA may start already before adulthood. The present study investigated the following: (1) Which clinical manifestations have been described so far in the literature as initial manifestations? ...Rare are myalgia, easy fatigabilit …
However, there is increasing evidence that SBMA may start already before adulthood. The present study investigated the following: (1) …
FG syndrome update 1988: note of 5 new patients and bibliography.
Opitz JM, Richieri-da Costa A, Aase JM, Benke PJ. Opitz JM, et al. Am J Med Genet. 1988 May-Jun;30(1-2):309-28. doi: 10.1002/ajmg.1320300132. Am J Med Genet. 1988. PMID: 3052062 Review.
At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum because present knowledge is largely based on propositi. It is an X-linked, incompletely recessive, complexly pleiotropic synd …
At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum …