Condition: Oligosynaptic Infertility
rs1057517779 in
NR5A1 gene and
Oligosynaptic Infertility
PMID 23154282 2012 The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.
PMID 25383892 2015 Exome sequencing for the diagnosis of 46,XY disorders of sex development.
PMID 22907560 2012 Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
PMID 25122490 2014 Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.
PMID 27169744 2016 Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
PMID 22028768 2011 Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
PMID 28032338 2017 SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.