메뉴 건너뛰기




Volumn 88, Issue 3, 2006, Pages 272-279

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female

Author keywords

Adrenal development; AHC; DAX1; NHR; NR0B1; NR5A1; SF1

Indexed keywords

NUCLEAR RECEPTOR DAX 1; STEROIDOGENIC FACTOR 1;

EID: 33745609818     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.12.004     Document Type: Article
Times cited : (23)

References (26)
  • 1
    • 0028558750 scopus 로고
    • An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
    • Zanaria E., Muscatelli F., Bardoni B., et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372 (1994) 635-641
    • (1994) Nature , vol.372 , pp. 635-641
    • Zanaria, E.1    Muscatelli, F.2    Bardoni, B.3
  • 2
    • 0028598360 scopus 로고
    • Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
    • Muscatelli F., Strom T.M., Walker A.P., et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372 (1994) 672-676
    • (1994) Nature , vol.372 , pp. 672-676
    • Muscatelli, F.1    Strom, T.M.2    Walker, A.P.3
  • 3
    • 0029912474 scopus 로고    scopus 로고
    • Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
    • Swain A., Zanaria E., Hacker A., Lovell-Badge R., and Camerino G. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat. Genet. 12 (1996) 404-409
    • (1996) Nat. Genet. , vol.12 , pp. 404-409
    • Swain, A.1    Zanaria, E.2    Hacker, A.3    Lovell-Badge, R.4    Camerino, G.5
  • 4
    • 0028818621 scopus 로고
    • Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis
    • Guo W., Burris T.P., and McCabe E.R. Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem. Mol. Med. 56 (1995) 8-13
    • (1995) Biochem. Mol. Med. , vol.56 , pp. 8-13
    • Guo, W.1    Burris, T.P.2    McCabe, E.R.3
  • 5
    • 0030780854 scopus 로고    scopus 로고
    • A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita
    • Lalli E., Bardoni B., Zazopoulos E., et al. A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol. Endocrinol. 11 (1997) 1950-1960
    • (1997) Mol. Endocrinol. , vol.11 , pp. 1950-1960
    • Lalli, E.1    Bardoni, B.2    Zazopoulos, E.3
  • 6
    • 0031020234 scopus 로고    scopus 로고
    • DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita
    • Ito M., Yu R., and Jameson J.L. DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. Mol. Cell. Biol. 17 (1997) 1476-1483
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 1476-1483
    • Ito, M.1    Yu, R.2    Jameson, J.L.3
  • 7
    • 0031895798 scopus 로고    scopus 로고
    • Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1
    • Crawford P.A., Dorn C., Sadovsky Y., and Milbrandt J. Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1. Mol. Cell. Biol. 18 (1998) 2949-2956
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 2949-2956
    • Crawford, P.A.1    Dorn, C.2    Sadovsky, Y.3    Milbrandt, J.4
  • 10
    • 0032977119 scopus 로고    scopus 로고
    • Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita
    • Reutens A.T., Achermann J.C., Ito M., et al. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 84 (1999) 504-511
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 504-511
    • Reutens, A.T.1    Achermann, J.C.2    Ito, M.3
  • 11
    • 0033305217 scopus 로고    scopus 로고
    • X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females
    • Seminara S.B., Achermann J.C., Genel M., Jameson J.L., and Crowley Jr. W.F. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J. Clin. Endocrinol. Metab. 84 (1999) 4501-4509
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 4501-4509
    • Seminara, S.B.1    Achermann, J.C.2    Genel, M.3    Jameson, J.L.4    Crowley Jr., W.F.5
  • 12
    • 0029809471 scopus 로고    scopus 로고
    • Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production
    • Habiby R.L., Boepple P., Nachtigall L., Sluss P.M., Crowley Jr. W.F., and Jameson J.L. 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 (1996) 1055-1062
    • (1996) J. Clin. Invest. , vol.98 , pp. 1055-1062
    • Habiby, R.L.1    Boepple, P.2    Nachtigall, L.3    Sluss, P.M.4    Crowley Jr., W.F.5    Jameson, J.L.6
  • 13
    • 0034747336 scopus 로고    scopus 로고
    • Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita
    • Phelan J.K., and McCabe E.R. Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum. Mutat. 18 (2001) 472-487
    • (2001) Hum. Mutat. , vol.18 , pp. 472-487
    • Phelan, J.K.1    McCabe, E.R.2
  • 14
    • 0033305636 scopus 로고    scopus 로고
    • Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay
    • Achermann J.C., Gu W.X., Kotlar T.J., et al. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. J. Clin. Endocrinol. Metab. 84 (1999) 4497-4500
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 4497-4500
    • Achermann, J.C.1    Gu, W.X.2    Kotlar, T.J.3
  • 15
    • 0035002512 scopus 로고    scopus 로고
    • Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans
    • Jordan B.K., Mohammed M., Ching S.T., et al. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Am. J. Hum. Genet. 68 (2001) 1102-1109
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1102-1109
    • Jordan, B.K.1    Mohammed, M.2    Ching, S.T.3
  • 16
    • 0036170532 scopus 로고    scopus 로고
    • Murine relaxin-like factor promoter: functional characterization and regulation by transcription factors steroidogenic factor 1 and DAX-1
    • Koskimies P., Levallet J., Sipila P., Huhtaniemi I., and Poutanen M. Murine relaxin-like factor promoter: functional characterization and regulation by transcription factors steroidogenic factor 1 and DAX-1. Endocrinology 143 (2002) 909-919
    • (2002) Endocrinology , vol.143 , pp. 909-919
    • Koskimies, P.1    Levallet, J.2    Sipila, P.3    Huhtaniemi, I.4    Poutanen, M.5
  • 17
    • 0037062488 scopus 로고    scopus 로고
    • X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein
    • Lehmann S.G., 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 (2002) 8225-8230
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 8225-8230
    • Lehmann, S.G.1    Lalli, E.2    Sassone-Corsi, P.3
  • 18
    • 0038364014 scopus 로고    scopus 로고
    • Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients
    • Lehmann S.G., Wurtz J.M., Renaud J.P., Sassone-Corsi P., and Lalli E. Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients. Hum. Mol. Genet. 12 (2003) 1063-1072
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1063-1072
    • Lehmann, S.G.1    Wurtz, J.M.2    Renaud, J.P.3    Sassone-Corsi, P.4    Lalli, E.5
  • 19
    • 0037841590 scopus 로고    scopus 로고
    • 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)
    • Kawajiri K., Ikuta T., Suzuki T., et al. 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 (2003) 994-1004
    • (2003) Mol. Endocrinol. , vol.17 , pp. 994-1004
    • Kawajiri, K.1    Ikuta, T.2    Suzuki, T.3
  • 20
    • 0347126878 scopus 로고    scopus 로고
    • Protein kinase A potentiates adrenal 4 binding protein/steroidogenic factor 1 transactivation by reintegrating the subcellular dynamic interactions of the nuclear receptor with its cofactors, general control nonderepressed-5/transformation/transcription domain-associated protein, and suppressor, dosage-sensitive sex reversal-1: a laser confocal imaging study in living KGN cells
    • Fan W., Yanase T., Wu Y., et al. Protein kinase A potentiates adrenal 4 binding protein/steroidogenic factor 1 transactivation by reintegrating the subcellular dynamic interactions of the nuclear receptor with its cofactors, general control nonderepressed-5/transformation/transcription domain-associated protein, and suppressor, dosage-sensitive sex reversal-1: a laser confocal imaging study in living KGN cells. Mol. Endocrinol. 18 1 (2004) 127-141
    • (2004) Mol. Endocrinol. , vol.18 , Issue.1 , pp. 127-141
    • Fan, W.1    Yanase, T.2    Wu, Y.3
  • 21
    • 0034924861 scopus 로고    scopus 로고
    • Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression
    • Achermann J.C., Ito M., Silverman B.L., et al. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. J. Clin. Endocrinol. Metab. 86 (2001) 3171-3175
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 3171-3175
    • Achermann, J.C.1    Ito, M.2    Silverman, B.L.3
  • 22
    • 0037214280 scopus 로고    scopus 로고
    • LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1
    • 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 (2003) 238-249
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 238-249
    • Suzuki, T.1    Kasahara, M.2    Yoshioka, H.3    Morohashi, K.4    Umesono, K.5
  • 23
    • 0033960595 scopus 로고    scopus 로고
    • A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
    • Tabarin A., Achermann J.C., Recan D., et al. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J. Clin. Investig. 105 3 (2000) 321-328
    • (2000) J. Clin. Investig. , vol.105 , Issue.3 , pp. 321-328
    • Tabarin, A.1    Achermann, J.C.2    Recan, D.3
  • 24
    • 0033279823 scopus 로고    scopus 로고
    • Regulation of nuclear localization: a key to a door
    • Kaffman A., and O'Shea E.K. Regulation of nuclear localization: a key to a door. Annu. Rev. Cell Dev. Biol. 15 (1999) 291-339
    • (1999) Annu. Rev. Cell Dev. Biol. , vol.15 , pp. 291-339
    • Kaffman, A.1    O'Shea, E.K.2
  • 25
    • 0033594383 scopus 로고    scopus 로고
    • Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene
    • Merke D.P., Tajima T., Baron J., and Cutler Jr. G.B. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N. Engl. J. Med. 340 (1999) 1248-1252
    • (1999) N. Engl. J. Med. , vol.340 , pp. 1248-1252
    • Merke, D.P.1    Tajima, T.2    Baron, J.3    Cutler Jr., G.B.4
  • 26
    • 0033799531 scopus 로고    scopus 로고
    • Modifier genes convert "simple" Mendelian disorders to complex traits
    • Dipple K.M., and McCabe E.R. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol. Genet. Metab. 71 (2000) 43-50
    • (2000) Mol. Genet. Metab. , vol.71 , pp. 43-50
    • Dipple, K.M.1    McCabe, E.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.