Role of DAX1 in Testis Determination and Function

Jameson, James Larry

Abstract

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
• Type: Research Project (R01)
• Project #: 5R01HD044801-02
• Application #: 6800745
• Study Section: Reproductive Biology Study Section (REB)
• Program Officer: Taymans, Susan
• Project Start: 2003-09-11
• Project End: 2008-06-30
• Budget Start: 2004-07-01
• Budget End: 2005-06-30
• Support Year: 2
• Fiscal Year: 2004
• Total Cost: $312,737

Institution

• Name: Northwestern University at Chicago
• Department: Internal Medicine/Medicine
• Type: Schools of Medicine
• DUNS #: 005436803
• City: Chicago
• State: IL
• Country: United States
• Zip Code: 60611

Publications

Jadhav, Unmesh; Jameson, J Larry (2011) Steroidogenic factor-1 (SF-1)-driven differentiation of murine embryonic stem (ES) cells into a gonadal lineage. Endocrinology 152:2870-82

Jadhav, Unmesh; Harris, Rebecca M; Jameson, J Larry (2011) Hypogonadotropic hypogonadism in subjects with DAX1 mutations. Mol Cell Endocrinol 346:65-73

Lin, Lin; Philibert, Pascal; Ferraz-de-Souza, Bruno et al. (2007) Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab 92:991-9

Park, Susan Y; Tong, Minghan; Jameson, J Larry (2007) Distinct roles for steroidogenic factor 1 and desert hedgehog pathways in fetal and adult Leydig cell development. Endocrinology 148:3704-10

Verrijn Stuart, A A; Ozisik, G; de Vroede, M A et al. (2007) An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency. J Clin Endocrinol Metab 92:755-61

Lin, Lin; Gu, Wen-Xia; Ozisik, Gokhan et al. (2006) Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab 91:3048-54

Tan, Tiong Yang; Jameson, J Larry; Campbell, Peter Ellis et al. (2006) Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. Am J Med Genet A 140:1778-84

Bhangoo, Amrit; Gu, Wen-Xia; Pavlakis, Steven et al. (2005) Phenotypic features associated with mutations in steroidogenic acute regulatory protein. J Clin Endocrinol Metab 90:6303-9

Park, Susan Y; Jameson, J Larry (2005) Minireview: transcriptional regulation of gonadal development and differentiation. Endocrinology 146:1035-42

Park, Susan Y; Meeks, Joshua J; Raverot, Gerald et al. (2005) Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development. Development 132:2415-23