| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
NR0B1 nuclear receptor subfamily 0 group B member 1 [KO: K08562]
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
nt06310 CRH-ACTH-cortisol signaling |
| Disease |
| H01772 | Adrenal hypoplasia, congenital |
|
| Reference |
|
| Authors |
Ito M, Yu R, Jameson JL |
| Title |
DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. |
| Journal |
|
| Reference |
|
| Authors |
Fichna M, Zurawek M, Gut P, Sowinski J, Nowak J |
| Title |
Adrenal hypoplasia congenita - an uncommon reason of primary adrenal insufficiency. |
| Journal |
|
| Reference |
|
| Authors |
Brown P, Scobie GA, Townsend J, Bayne RA, Seckl JR, Saunders PT, Anderson RA |
| Title |
Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. |
| Journal |
|
| Reference |
|
| Authors |
Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, et al. |
| Title |
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. |
| Journal |
|
| Reference |
|
| Authors |
Yanase T, Takayanagi R, Oba K, Nishi Y, Ohe K, Nawata H |
| Title |
New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. |
| Journal |
|
| Reference |
|
| Authors |
Hoivik EA, Lewis AE, Aumo L, Bakke M |
| Title |
Molecular aspects of steroidogenic factor 1 (SF-1). |
| Journal |
|
| LinkDB |
|