|
1
|
MacMahon HE, Wagner R and Weiner DB: Acute
adrenal insufficiency due to congenital defect. Am J Dis Child.
94:282–285. 1957.
|
|
2
|
Zanaria E, Muscatelli F, Bardoni B, Strom
TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER, et al:
An unusual member of the nuclear hormone receptor superfamily
responsible for X-linked adrenal hypoplasia congenita. Nature.
372:635–641. 1994. View
Article : Google Scholar : PubMed/NCBI
|
|
3
|
Reutens AT, Achermann JC, Ito M, Ito M, Gu
WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC and Jameson JL:
Clinical and functional effects of mutations in the DAX-1 gene in
patients with adrenal hypoplasia congenita. J Clin Endocrinol
Metab. 84:504–511. 1999.PubMed/NCBI
|
|
4
|
Lin L, Gu WX, Ozisik G, To WS, Owen CJ,
Jameson JL and Achermann JC: Analysis of DAX1 (NR0B1) and
steroidogenic factor-1 (NR5A1) in children and adults with primary
adrenal failure: Ten years' experience. J Clin Endocrinol Metab.
91:3048–3054. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Uttley WS: Familial congenital adrenal
hypoplasia. Arch Dis Child. 43:724–730. 1968. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Habiby RL, Boepple P, Nachtigall L, Sluss
PM, Crowley WF Jr and Jameson JL: Adrenal hypoplasia congenita with
hypogonadotropic hypogonadism: Evidence that DAX-1 mutations lead
to combined hypothalamic and pituitary defects in gonadotropin
production. J Clin Invest. 98:1055–1062. 1996. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Zachmann M, Illig R and Prader A:
Gonadotropin deficiency and cryptorchidism in three prepubertal
brothers with congenital adrenal hypoplasia. J Pediatr. 97:255–257.
1980. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Hammond J, Howard NJ, Brookwell R,
Purvis-Smith S, Wilcken B and Hoogenraad N: Proposed assignment of
loci for X-linked adrenal hypoplasia and glycerol kinase genes.
Lancet. 1:541985. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Bartley JA, Patil S, Davenport S,
Goldstein D and Pickens J: Duchenne muscular dystrophy, glycerol
kinase deficiency and adrenal insufficiency associated with Xp21
interstitial deletion. J Pediatr. 108:189–192. 1986. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Francke U, Harper JF, Darras BT, Cowan JM,
McCabe ER, Kohlschütter A, Seltzer WK, Saito F, Goto J, Harpey JP,
et al: Congenital adrenal hypoplasia, myopathy and glycerol kinase
deficiency: Molecular genetic evidence for deletions. Am J Hum
Genet. 40:212–227. 1987.PubMed/NCBI
|
|
11
|
Muscatelli F, Strom TM, Walker AP, Zanaria
E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, et
al: Mutations in the DAX-1 gene give rise to both X-linked adrenal
hypoplasia congenita and hypogonadotropic hypogonadism. Nature.
372:672–676. 1994. View
Article : Google Scholar : PubMed/NCBI
|
|
12
|
Guo W, Burris TP, Zhang YH, Huang BL,
Mason J, Copeland KC, Kupfer SR, Pagon RA and McCabe ER: Genomic
sequence of the DAX1 gene: An orphan nuclear receptor responsible
for X-linked adrenal hypoplasia congenital and hypogonadotropic
hypogonadism. J Clin Endocrinol Metab. 81:2481–2486.
1996.PubMed/NCBI
|
|
13
|
Guo W, Burris TP and McCabe ER: Expression
of DAX1, the gene responsible for X-linked adrenal hypoplasia
congenita and hypogonadotropic hypogonadism, in the
hypo-thalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med.
56:8–13. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Mukai T, Kusaka M, Kawabe K, Goto K,
Nawata H, Fujieda K and Morohashi K: Sexually dimorphic expression
of Dax-1 in the adrenal cortex. Genes Cells. 7:717–729. 2002.
View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Ikeda Y, Swain A, Weber TJ, Hentges KE,
Zanaria E, Lalli E, Tamai KT, Sassone-Corsi P, Lovell-Badge R,
Camerino G and Parker KL: Steroidogenic factor 1 and Dax-1
colocalize in multiple cell lineages: Potential links in endocrine
development. Mol Endocrinol. 10:1261–1272. 1996.PubMed/NCBI
|
|
16
|
Ito M, Yu R and Jameson JL: DAX-1 inhibits
SF-1-mediated transactivation via a carboxy-terminal domain that is
deleted in adrenal hypoplasia congenital. Mol Cell Biol.
17:1476–1483. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Zazopoulos E, Lalli E, Stocco DM and
Sassone-Corsi P: DNA binding and transcriptional repression by
DAX-1 blocks steroidogenesis. Nature. 390:311–315. 1997. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Suzuki T, Kasahara M, Yoshioka H,
Morohashi K and Umesono K: LXXLL-related motifs in Dax-1 have
target specificity for the orphan nuclear receptors Ad4BP/SF-1 and
LRH-1. Mol Cell Biol. 23:238–249. 2003. View Article : Google Scholar :
|
|
19
|
Desmangles JC, Lappe JM, Lipaczewski G and
Haynatzki G: Accuracy of pubertal Tanner staging self-reporting. J
Pediatr Endocrinol Metab. 19:213–221. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Li S and Wilkinson MF: Site-directed
mutagenesis: A two-step method using PCR and DpnI. Biotechniques.
23:588–590. 1997.PubMed/NCBI
|
|
21
|
Li N, Liu R, Zhang H, Yang J, Sun S, Zhang
M, Liu Y, Lu Y, Wang W, Mu Y, et al: Seven novel DAX1 mutations
with loss of function identified in Chinese patients with
congenital adrenal hypoplasia. J Clin Endocrinol Metab.
95:E104–E111. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Livak KJ and Schmittgen TD: Analysis of
relative gene expression data using real-time quantitative PCR and
the 2(-Delta Delta C(T)) method. Methods. 25:402–408. 2001.
View Article : Google Scholar
|
|
23
|
Achermann JC, Ito M, Silverman BL, Habiby
RL, Pang S, Rosler A and Jameson JL: Missense mutations cluster
within the carboxyl-terminal region of DAX-1 and impair
transcriptional repression. J Clin Endocrinol Metab. 86:3171–5.
2001.PubMed/NCBI
|
|
24
|
Peter M, Viemann M, Partsch CJ and Sippell
WG: Congenital adrenal hypoplasia: Clinical spectrum, experience
with hormonal diagnosis and report on new point mutations of the
DAX-1 gene. J Clin Endocrinol Metab. 83:2666–2674. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Esden-Tempska Z, Lewczuk A, Tobias ES,
Borozdin W, Kohlhase J and Sworczak K: Delayed diagnosis of adrenal
hypoplasia congenita in a patient with a new mutation in the NR0B1
gene. J Pediatr Endocrinol Metab. 25:147–148. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Nakae J, Tajima T, Kusuda S, Kohda N,
Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K and
Fujieda K: Truncation at the C-terminus of the DAX-1 protein
impairs its biological actions in patients with X-linked adrenal
hypoplasia congenita. J Clin Endocrinol Metab. 81:3680–3685.
1996.PubMed/NCBI
|
|
27
|
Tsai WY and Tung YC: Novel deletion
mutations of the DAX1 (NR0B1) gene in two Taiwanese families with
X-linked adrenal hypoplasia congenita. J Pediatr Endocrinol Metab.
18:991–997. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Domenice S, Latronico AC, Brito VN,
Arnhold IJ, Kok F and Mendonca BB: Adrenocorticotropin-dependent
precocious puberty of testicular origin in a boy with X-linked
adrenal hypoplasia congenita due to a novel mutation in the DAX1
gene. J Clin Endocrinol Metab. 86:4068–4071. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Wheeler B, George PM, Mackenzie K, Hunt P,
Potter HC and Florkowski CM: Three cases of congenital adrenal
hypoplasia with novel mutations in the (NROB1) DAX-1 gene. Ann Clin
Biochem. 45:606–609. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
García-Malpartida K, Gómez-Balaguer M,
Solá-Izquierdo E, Fuentes-Pardilla MJ, Jover-Fernández A, Sanz-Ruiz
I and Hernández-Mijares A: A novel mutation in DAX1 (NR0B1) causing
X-linked adrenal hypoplasia congenita: Clinical, hormonal and
genetic analysis. Endocrine. 36:275–280. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Zhang YH, Huang BL, Anyane-Yeboa K,
Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M,
Metzger DL, Quadrelli R, et al: Nine novel mutations in NR0B1
(DAX1) causing adrenal hypoplasia congenita. Hum Mutat. 18:5472001.
View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Brogna S and Wen J: Nonsense-mediated mRNA
decay (NMD) mechanisms. Nat Struct Mol Biol. 16:107–113. 2009.
View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Lalli E, Ohe K, Hindelang C and
Sassone-Corsi P: Orphan receptor DAX-1 is a shuttling RNA binding
protein associated with polyribosomes via mRNA. Mol Cell Biol.
20:4910–4921. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Kawajiri K, Ikuta T, Suzuki T, Kusaka M,
Muramatsu M, Fujieda K, Tachibana M and Morohashi K: Role of the
LXXLL-motif and activation function 2 domain in subcellular
localization of Dax-1 (dosage-sensitive sex reversal-adrenal
hypoplasia congenita critical region on the X chromosome, gene 1).
Mol Endocrinol. 17:994–1004. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Lehmann SG, Lalli E and Sassone-Corsi P:
X-linked adrenal hypoplasia congenita is caused by abnormal nuclear
localization of the DAX-1 protein. Proc Natl Acad Sci USA.
99:8225–8230. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Ozisik G, Mantovani G, Achermann JC,
Persani L, Spada A, Weiss J, Beck-Peccoz P and Jameson JL: An
alternate translation initiation site circumvents an amino-terminal
DAX1 nonsense mutation leading to a mild form of X-linked adrenal
hypoplasia congenital. J Clin Endocrinol Metab. 88:417–423. 2003.
View Article : Google Scholar : PubMed/NCBI
|
