A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

WT-1 is required for early kidney development

Kreidberg, J. A., Sariola, H. V., Loring, J. M., Maeda, M., Pelletier, J., Housman, D. E., & Jaenisch, R. (1993) · Cell · doi:10.1016/0092-8674(93)90515-r · Cited by 1,985 · see citing works

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation

Luo, X., Ikeda, Y., & Parker, K. L. (1994) · Cell · doi:10.1016/0092-8674(94)90211-9 · Cited by 1,631 · see citing works

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Foster, J. W., Dominguez-Steglich, M., Guioli, S., Kwok, C., Weller, P., Stevanović, M., Weissenbach, J., Mansour, S., Young, I., Goodfellow, P., et al. (1994) · Nature · doi:10.1038/372525a0 · Cited by 1,602 · see citing works

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

Pelletier, J., Bruening, W., Kashtan, C. E., Mauer, S. M., Manivel, J. C., Striegel, J. E., Houghton, D. C., Junien, C., Habib, R., & Fouser, L. S. (1991) · Cell · doi:10.1016/0092-8674(91)90194-4 · Cited by 948 · see citing works

Steroidogenic factor 1: a key determinant of endocrine development and function

Parker, K. L., & Schimmer, B. P. (1997) · Endocrine Reviews · doi:10.1210/edrv.18.3.0301 · Cited by 764 · see citing works

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Barbaux, S., Niaudet, P., Gübler, M.-C., Grünfeld, J., Jaubert, F., Kuttenn, F., Nihoul‐Feketé, C., Souleyreau-Therville, N., Thibaud, E., Fellous, M., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-467 · Cited by 742 · see citing works

Steroidogenic factor I, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-factor I

Lala, D. S. (1992) · Molecular Endocrinology · doi:10.1210/me.6.8.1249 · Cited by 678 · see citing works

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

Bardoni, B., Zanaria, E., Guioli, S., Floridia, G., Worley, K. C., Tonini, G., Ferrante, E., Chiumello, G., McCabe, E. R. B., Fraccaro, M., et al. (1994) · Nature Genetics · doi:10.1038/ng0894-497 · Cited by 607 · see citing works

Wilms’ tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.

Nachtigal, M. W., Hirokawa, Y., Enyeart-VanHouten, D. L., Flanagan, J. N., Hammer, G. D., & Ingraham, H. A. (1998) · Cell · doi:10.1016/s0092-8674(00)81172-1 · Cited by 591 · see citing works

Dax1 antagonizes Sry action in mammalian sex determination

Swain, A., Narváez‐Padilla, V., Burgoyne, P. S., Camerino, G., & Lovell-Badge, R. H. (1998) · Nature · doi:10.1038/35799 · Cited by 540 · see citing works

A Dosage Sensitive Locus at Chromosome Xp21 Is Involved in Male to Female Sex Reversal

Bardoni, B., Zanaria, E., Guioli, S., Floridia, G., Worley, K. C., Tonini, G., Ferrante, E., Chiumello, G., McCabe, E. R. B., Fraccaro, M., et al. (1995) · Obstetrical & Gynecological Survey · doi:10.1097/00006254-199502000-00020 · Cited by 539 · see citing works

Three amino acids of the oestrogen receptor are essential to its ability to distinguish an oestrogen from a glucocorticoid-responsive element

Mader, S., Kumar, V., de Verneuil, H., & Chambon, P. (1989) · Nature · doi:10.1038/338271a0 · Cited by 500 · see citing works

The nuclear receptor SF-1 mediates sexually dimorphic expression of Müllerian Inhibiting Substance, in vivo

Giuili, G., Shen, W.-H., & Ingraham, H. A. (1997) · Development · doi:10.1242/dev.124.9.1799 · Cited by 198 · see citing works

Steroidogenic factor-1 binding and transcriptional activity of the cholesterol side-chain cleavage promoter in rat granulosa cells

Clemens, J. W., Lala, D. S., Parker, K. L., & Richards, J. S. (1994) · Endocrinology · doi:10.1210/endo.134.3.8119192 · Cited by 176 · see citing works

Cloning and sequence analysis of the human gene encoding steroidogenic factor 1

Wong, M., Ramayya, M. S., Chrousos, G. P., Driggers, P. H., & Parker, K. L. (1996) · Journal of Molecular Endocrinology · doi:10.1677/jme.0.0170139 · Cited by 105 · see citing works

Mutant Vasopressin Precursors That Cause Autosomal Dominant Neurohypophyseal Diabetes Insipidus Retain Dimerization and Impair the Secretion of Wild-type Proteins

Ito, M., Yu, R. N., Jameson, J. L., & Ito, M. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.13.9029 · Cited by 90 · see citing works

The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders

Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458 · see citing works

Adrenal insufficiency

Arlt, W., & Allolio, B. (2003) · The Lancet · doi:10.1016/s0140-6736(03)13492-7 · Cited by 819 · see citing works

Too many roads not taken

Edwards, A. M., Isserlin, R., Bader, G. D., Frye, S. V., Willson, T. M., & Yu, F. H. (2011) · Nature · doi:10.1038/470163a · Cited by 411 · see citing works

Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit

Ishimoto, H., & Jaffe, R. B. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0001 · Cited by 379 · see citing works

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner

Achermann, J. C., Ozisik, G., Ito, M., Orun, U. A., Harmanci, K., Gurakan, B., & Jameson, J. L. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.4.8376 · Cited by 305 · see citing works

Role of the GATA Family of Transcription Factors in Endocrine Development, Function, and Disease

Viger, R. S., Guittot, S. M., Anttonen, M., Wilson, D. B., & Heikinheimo, M. (2008) · Molecular Endocrinology · doi:10.1210/me.2007-0513 · Cited by 270 · see citing works

Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease

Schimmer, B. P., & White, P. C. (2010) · Molecular Endocrinology · doi:10.1210/me.2009-0519 · Cited by 268 · see citing works

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency

Biason-Lauber, A., & Schoenle, E. J. (2000) · The American Journal of Human Genetics · doi:10.1086/316893 · Cited by 240 · see citing works

Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience

Lin, L., Gu, W.-X., Ozisik, G., To, W. S., Owen, C. J., Jameson, J. L., & Achermann, J. C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0603 · Cited by 210 · see citing works

Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

Tajima, T., Fujieda, K., Kouda, N., Nakae, J., & Miller, W. L. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.8.7748 · Cited by 196 · see citing works

Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation.

Hanley, N. A., Rainey, W. E., Wilson, D. I., Ball, S. G., & Parker, K. L. (2001) · Molecular Endocrinology · doi:10.1210/mend.15.1.0585 · Cited by 193 · see citing works

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

Tabarin, A., Achermann, J. C., Recan, D., Bex, V., Bertagna, X., Christin-Maitre, S., Ito, M., Jameson, J. L., & Bouchard, P. (2000) · Journal of Clinical Investigation · doi:10.1172/jci7212 · Cited by 187 · see citing works

Development of adrenal cortex zonation

Xing, Y., Lerario, A. M., Rainey, W., & Hammer, G. D. (2015) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2015.02.001 · Cited by 174 · see citing works

Phenotypic spectrum of mutations in DAX-1 and SF-1

Achermann, J. C., Meeks, J. J., & Larry Jameson, J. (2001) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(01)00619-0 · Cited by 163 · see citing works

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

Kim, C. J., Lin, L., Huang, N., Quigley, C. A., AvRuskin, T. W., Achermann, J. C., & Miller, W. L. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2330 · Cited by 139 · see citing works

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

Hiort, O., Holterhus, P.-M., Werner, R., Marschke, C., Hoppe, U., Partsch, C.-J., Riepe, F. G., Achermann, J. C., & Struve, D. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1059 · Cited by 120 · see citing works

Compound Heterozygous Mutations in the Cholesterol Side-Chain Cleavage Enzyme Gene (<i>CYP11A</i>) Cause Congenital Adrenal Insufficiency in Humans

Katsumata, N., Ohtake, M., Hojo, T., Ogawa, E., Hara, T., Sato, N., & Tanaka, T. (2002) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jcem.87.8.8763 · Cited by 125 · see citing works

Mutations inNR0B1 (DAX1) andNR5A1 (SF1) responsible for adrenal hypoplasia congenita

Phelan, J. K., & Mccabe, E. R. B. (2001) · Human Mutation · doi:10.1002/humu.1225 · Cited by 110 · see citing works

Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function

Bland, M. L., Fowkes, R. C., & Ingraham, H. A. (2004) · Molecular Endocrinology · doi:10.1210/me.2003-0333 · Cited by 105 · see citing works

Epigenetic alterations affecting transcription factors and signaling pathways in stromal cells of endometriosis

Yotova, I., Hsu, E., Do, C., Gaba, A., Sczabolcs, M., Dekan, S., Kenner, L., Wenzl, R., & Tycko, B. (2017) · PLOS ONE · doi:10.1371/journal.pone.0170859 · Cited by 81 · see citing works

MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction

Flück, C. E. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0128 · Cited by 75 · see citing works

Steroidogenic factor 1 (SF-1) is essential for ovarian development and function

Hanley, N. A., Ikeda, Y., Luo, X., & Parker, K. L. (2000) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(99)00237-3 · Cited by 51 · see citing works

Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature

Burckhardt, M.-A., Udhane, S. S., Marti, N., Schnyder, I., Tapia, C., Nielsen, J. E., Mullis, P. E., Rajpert-De Meyts, E., & Flück, C. E. (2015) · European Journal of Endocrinology · doi:10.1530/eje-15-0599 · Cited by 49 · see citing works

Near-miss apparent SIDS from adrenal crisis

Gassner, H. L., Toppari, J., Quinteiro González, S., & Miller, W. L. (2004) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2004.04.052 · Cited by 47 · see citing works

Primary adrenal insufficiency in childhood: data from a large nationwide cohort

Capalbo, D., Moracas, C., Cappa, M., Balsamo, A., Maghnie, M., Wasniewska, M. G., Greggio, N. A., Baronio, F., Bizzarri, C., Ferro, G., et al. (2021) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/clinem/dgaa881 · Cited by 47 · see citing works

Fetal hormones and sexual differentiation

Sobel, V., Zhu, Y.-S., & Imperato-McGinley, J. (2004) · Obstetrics and Gynecology Clinics of North America · doi:10.1016/j.ogc.2004.08.005 · Cited by 44 · see citing works

Age-specific changes in sex steroid biosynthesis and sex development

Krone, N., Hanley, N. A., & Arlt, W. (2007) · Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism · doi:10.1016/j.beem.2007.06.001 · Cited by 36 · see citing works

Expression of steroidogenic factor 1 (SF-1) and steroidogenic acute regulatory protein (StAR) in endometriosis is associated with endometriosis severity

Tian, Y., Kong, B., Zhu, W., Su, S., & Kan, Y. (2009) · Journal of International Medical Research · doi:10.1177/147323000903700513 · Cited by 25 · see citing works

SF1 in the Development of the Adrenal Gland and Gonads

Özışık, G., Achermann, J. C., Meeks, J. J., & Jameson, J. L. (2003) · Hormone Research in Paediatrics · doi:10.1159/000067831 · Cited by 85 · see citing works

Multifunctional role of steroidogenic factor 1 and disorders of sex development

de Mello, M. P., França, E. S. S., Fabbri‐Scallet, H., Maciel‐Guerra, A. T., & Guerra‐Júnior, G. (2011) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302011000800015 · Cited by 23 · see citing works

Testicular differentiation factor SF-1 is required for human spleen development

Zangen, D., Kaufman, Y., Banne, E., Weinberg‐Shukron, A., Abu‐Libdeh, A., Garfinkel, B. P., Dweik, D., Kanaan, M. N., Camats, N., Flück, C. E., et al. (2014) · Journal of Clinical Investigation · doi:10.1172/jci73186 · Cited by 51 · see citing works

Anomalies of Human Sexual Development: Clinical Aspects and Genetic Analysis

Vilain, E. J. N. (2002) · Novartis Foundation symposium · doi:10.1002/0470868732.ch5 · Cited by 21 · see citing works

Excess DAX1 Leads to XY Ovotesticular Disorder of Sex Development (DSD) in Mice by Inhibiting Steroidogenic Factor-1 (SF1) Activation of the Testis Enhancer of SRY-box-9 (Sox9)

Ludbrook, L. M., Bernard, P., Bagheri‐Fam, S., Ryan, J., Sekido, R., Wilhelm, D., Lovell-Badge, R. H., & Harley, V. R. (2012) · Endocrinology · doi:10.1210/en.2011-1428 · Cited by 79 · see citing works