KEGG   VARIANT: 190v1
Entry
190v1                      Variant                                 
Name
NROB1 mutation
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
mutations
OmimVar: 300473
Network
nt06310  CRH-ACTH-cortisol signaling
Disease
H01772  Adrenal hypoplasia, congenital
Reference
PMID:9032275
  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
Mol Cell Biol 17:1476-83 (1997)
DOI:10.1128/MCB.17.3.1476
Reference
  Authors
Fichna M, Zurawek M, Gut P, Sowinski J, Nowak J
  Title
Adrenal hypoplasia congenita - an uncommon reason of primary adrenal insufficiency.
  Journal
Ann Endocrinol (Paris) 71:309-13 (2010)
DOI:10.1016/j.ando.2010.04.003
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
J Clin Endocrinol Metab 88:1341-9 (2003)
DOI:10.1210/jc.2002-021560
Reference
PMID:7990958
  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
Nature 372:672-6 (1994)
DOI:10.1038/372672a0
Reference
PMID:8636263
  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
J Clin Endocrinol Metab 81:530-5 (1996)
DOI:10.1210/jcem.81.2.8636263
Reference
  Authors
Hoivik EA, Lewis AE, Aumo L, Bakke M
  Title
Molecular aspects of steroidogenic factor 1 (SF-1).
  Journal
Mol Cell Endocrinol 315:27-39 (2010)
DOI:10.1016/j.mce.2009.07.003
LinkDB

DBGET integrated database retrieval system