Associated Papers
Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.
Okuhara K et al.
Endocrine Journal, 2008
[Functional analysis of mutated DAX-1 gene in patients with X linked adrenal hypoplasia congenita complicated with hypogonadotropic hypogonadism using luteinizing hormone beta-subunit gene promotor].
Okuhara K
[hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science, 2004
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK et al.
Human Mutation, 2001
A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Wang J et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 1999
Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Bassett JH et al.
Clinical Endocrinology, 1999
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang YH et al.
American Journal of Human Genetics, 1998
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
Nakae J et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.
Nakae J et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
Select a paper to view details