The role of SF1/DAX1 in adrenal and reproductive function

[1] Phenotypic spectrum of mutations in DAX-1 and SF-1 [J]. MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2001, 185 (1-2) : 17 - 25

[2] A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans [J]. NATURE GENETICS, 1999, 22 (02) : 125 - 126

[3] Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (04) : 1829 - 1833

[4] Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (07) : 3171 - 3175

[5] A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL [J]. NATURE GENETICS, 1994, 7 (04) : 497 - 501

[6] Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1563 - 1568

[7] Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function [J]. MOLECULAR ENDOCRINOLOGY, 2004, 18 (04) : 941 - 952

[8] Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (03) : 1341 - 1349

[9] A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (04) : 1767 - 1772

[10] DEFIGUEIREDO BC, 2005, J CLIN ENDOCR METAB, V90, P615

[1] Phenotypic spectrum of mutations in DAX-1 and SF-1 [J]. MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2001, 185 (1-2) : 17 - 25

[2] A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans [J]. NATURE GENETICS, 1999, 22 (02) : 125 - 126

[3] Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (04) : 1829 - 1833

[4] Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (07) : 3171 - 3175

[5] A DOSAGE SENSITIVE LOCUS AT CHROMOSOME XP21 IS INVOLVED IN MALE TO FEMALE SEX REVERSAL [J]. NATURE GENETICS, 1994, 7 (04) : 497 - 501

[6] Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1563 - 1568

[7] Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function [J]. MOLECULAR ENDOCRINOLOGY, 2004, 18 (04) : 941 - 952

[8] Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (03) : 1341 - 1349

[9] A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (04) : 1767 - 1772

[10] DEFIGUEIREDO BC, 2005, J CLIN ENDOCR METAB, V90, P615