A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
- PMID: 10369247
- DOI: 10.1038/9629
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
Similar articles
-
Genetics of XY sex reversal.J Endocrinol. 1995 Nov;147(2):183-7. doi: 10.1677/joe.0.1470183. J Endocrinol. 1995. PMID: 7490546 No abstract available.
-
The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.Mol Genet Metab. 2002 Jun;76(2):85-91. doi: 10.1016/s1096-7192(02)00032-x. Mol Genet Metab. 2002. PMID: 12083805 Review.
-
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.Hum Mutat. 2001 Dec;18(6):472-87. doi: 10.1002/humu.1225. Hum Mutat. 2001. PMID: 11748841 Review.
-
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.J Clin Endocrinol Metab. 2004 Apr;89(4):1767-72. doi: 10.1210/jc.2003-031240. J Clin Endocrinol Metab. 2004. PMID: 15070943
-
Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women.J Clin Endocrinol Metab. 2001 Apr;86(4):1746-9. doi: 10.1210/jcem.86.4.7424. J Clin Endocrinol Metab. 2001. PMID: 11297612
Cited by
-
Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing.Horm Res Paediatr. 2017;87(4):264-270. doi: 10.1159/000448754. Epub 2016 Aug 24. Horm Res Paediatr. 2017. PMID: 27553487 Free PMC article.
-
Mammalian sex determination—insights from humans and mice.Chromosome Res. 2012 Jan;20(1):215-38. doi: 10.1007/s10577-012-9274-3. Chromosome Res. 2012. PMID: 22290220 Free PMC article. Review.
-
Mechanisms underlying the tissue-specific and regulated activity of the Gnrhr promoter in mammals.Front Endocrinol (Lausanne). 2012 Dec 13;3:162. doi: 10.3389/fendo.2012.00162. eCollection 2012. Front Endocrinol (Lausanne). 2012. PMID: 23248618 Free PMC article.
-
Disentangling genetic vs. environmental causes of sex determination in the common frog, Rana temporaria.BMC Genet. 2008 Jan 8;9:3. doi: 10.1186/1471-2156-9-3. BMC Genet. 2008. PMID: 18182101 Free PMC article.
-
In search of adrenocortical stem and progenitor cells.Endocr Rev. 2009 May;30(3):241-63. doi: 10.1210/er.2008-0039. Epub 2009 Apr 29. Endocr Rev. 2009. PMID: 19403887 Free PMC article. Review.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Molecular Biology Databases