The DAX1 mutation in a patient with hypogonadotropic hypogonadism and adrenal hypoplasia congenita causes functional disruption of induction of spermatogenesis

[1] Agoulnik IU(2003)Repressors of androgen and progesterone receptor action J Biol Chem 278 31136-48

[2] Krause WC(2009)Morphology and function of human Leydig cells in vitro. Immunocytochemical and radioimmunological analyses Eur J Histochem 53 35-42

[3] Bingman WE(2001)Expression of connexin43 in mouse Leydig, Sertoli, and germinal cells at different stages of postnatal development Anat Rec 264 13-24

[4] Rahman HT(2003)Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation J Clin Endocrinol Metab 88 1341-9

[5] Amrikachi M(2011)Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation Hum Reprod 26 724-8

[6] Ayala GE(2009)Age-dependent pattern of connexion 43 expression in testes of European bison J Exp Zool 311A 667-75

[7] Bilinska B(1997) L.) Mol Cell Biol 17 1476-83

[8] Kotula-Balak M(2007)DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita Gynecol Endocrinol 23 499-504

[9] Sadowska J(2001)Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor Endocrinol 142 4486-95

[10] Bravo-Moreno JF(2004)Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice Acta histochem 106 55-64

[1] Agoulnik IU(2003)Repressors of androgen and progesterone receptor action J Biol Chem 278 31136-48

[2] Krause WC(2009)Morphology and function of human Leydig cells in vitro. Immunocytochemical and radioimmunological analyses Eur J Histochem 53 35-42

[3] Bingman WE(2001)Expression of connexin43 in mouse Leydig, Sertoli, and germinal cells at different stages of postnatal development Anat Rec 264 13-24

[4] Rahman HT(2003)Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation J Clin Endocrinol Metab 88 1341-9

[5] Amrikachi M(2011)Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation Hum Reprod 26 724-8

[6] Ayala GE(2009)Age-dependent pattern of connexion 43 expression in testes of European bison J Exp Zool 311A 667-75

[7] Bilinska B(1997) L.) Mol Cell Biol 17 1476-83

[8] Kotula-Balak M(2007)DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita Gynecol Endocrinol 23 499-504

[9] Sadowska J(2001)Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor Endocrinol 142 4486-95

[10] Bravo-Moreno JF(2004)Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice Acta histochem 106 55-64