Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.

[1]  W. Miller,et al.  The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. , 2011, Endocrine reviews.

[2]  V. Montori,et al.  Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. , 2010, The Journal of clinical endocrinology and metabolism.

[3]  F. de Jong,et al.  Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. , 2010, The Journal of clinical endocrinology and metabolism.

[4]  E. Schoenle,et al.  Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. , 2009, American journal of human genetics.

[5]  T. Ogata,et al.  Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. , 2009, The Journal of clinical endocrinology and metabolism.

[6]  C. Béroud,et al.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.

[7]  B. Mendonca,et al.  46,XY disorders of sex development (DSD) , 2009, Clinical endocrinology.

[8]  W. Miller,et al.  Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. , 2008, The Journal of clinical endocrinology and metabolism.

[9]  Kathleen M. Giacomini,et al.  Genetics of P450 oxidoreductase: Sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations , 2008, Proceedings of the National Academy of Sciences.

[10]  M. Ziegler,et al.  NAD Kinase Levels Control the NADPH Concentration in Human Cells* , 2007, Journal of Biological Chemistry.

[11]  Amit V Pandey,et al.  Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase. , 2007, Molecular endocrinology.

[12]  J. Královičová,et al.  Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition , 2007, Nucleic acids research.

[13]  Michal Otyepka,et al.  Identification of tunnels in proteins, nucleic acids, inorganic materials and molecular ensembles , 2007, Biotechnology journal.

[14]  G. Vriend,et al.  Fast empirical pKa prediction by Ewald summation. , 2006, Journal of molecular graphics & modelling.

[15]  T. Penning,et al.  Multiple steps determine the overall rate of the reduction of 5alpha-dihydrotestosterone catalyzed by human type 3 3alpha-hydroxysteroid dehydrogenase: implications for the elimination of androgens. , 2006, Biochemistry.

[16]  T. Ogata,et al.  Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. , 2006, The Journal of clinical endocrinology and metabolism.

[17]  Holger Gohlke,et al.  The Amber biomolecular simulation programs , 2005, J. Comput. Chem..

[18]  Pierre Legrand,et al.  Comparison of crystal structures of human type 3 3α‐hydroxysteroid dehydrogenase reveals an “induced‐fit” mechanism and a conserved basic motif involved in the binding of androgen , 2005, Protein science : a publication of the Protein Society.

[19]  Gert Vriend,et al.  Making optimal use of empirical energy functions: Force‐field parameterization in crystal space , 2004, Proteins.

[20]  R. Auchus.  The backdoor pathway to dihydrotestosterone , 2004, Trends in Endocrinology & Metabolism.

[21]  J. Marcos,et al.  Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley–Bixler syndrome phenotype , 2004, American journal of medical genetics. Part A.

[22]  J. Richardson,et al.  Steroid 5α-reductase 1 promotes 5α-androstane-3α,17β-diol synthesis in immature mouse testes by two pathways , 2004, Molecular and Cellular Endocrinology.

[23]  C. Shackleton,et al.  Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study , 2004, The Lancet.

[24]  T. Penning,et al.  Structure–function of human 3α-hydroxysteroid dehydrogenases: genes and proteins , 2004, Molecular and Cellular Endocrinology.

[25]  E. Jabs,et al.  Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome , 2004, Nature Genetics.

[26]  T. Penning,et al.  Human cytosolic 3alpha-hydroxysteroid dehydrogenases of the aldo-keto reductase superfamily display significant 3beta-hydroxysteroid dehydrogenase activity: implications for steroid hormone metabolism and action. , 2003, The Journal of biological chemistry.

[27]  D. Ray,et al.  Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency , 2003, Nature Genetics.

[28]  Ruth Nussinov,et al.  Taking geometry to its edge: Fast unbound rigid (and hinge‐bent) docking , 2003, Proteins.

[29]  D. Peehl,et al.  Human type 3 3alpha-hydroxysteroid dehydrogenase (aldo-keto reductase 1C2) and androgen metabolism in prostate cells. , 2003, Endocrinology.

[30]  R. Estabrook,et al.  5α-androstane-3α, 17β-diol is formed in tammar wallaby pouch young testes by a pathway involving 5α-pregnane-3α, 17α-diol-20-one as a key intermediate , 2003 .

[31]  Maximilian Muenke,et al.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. , 2002, American journal of human genetics.

[32]  Pierre Legrand,et al.  Structure of the Human 3α-Hydroxysteroid Dehydrogenase Type 3 in Complex with Testosterone and NADP at 1.25-Å Resolution* , 2001, The Journal of Biological Chemistry.

[33]  N. Palackal,et al.  Crystal structure of human type III 3alpha-hydroxysteroid dehydrogenase/bile acid binding protein complexed with NADP(+) and ursodeoxycholate. , 2001, Biochemistry.

[34]  F. Labrie,et al.  Human Types 1 and 3 3α-Hydroxysteroid Dehydrogenases: Differential Lability and Tissue Distribution1 , 2001 .

[35]  Michael E. Burczynski,et al.  Human 3α-hydroxysteroid dehydrogenase isoforms (AKR1C1–AKR1C4) of the aldo-keto reductase superfamily: functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormones , 2000 .

[36]  J. Vockley,et al.  Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. , 2000, Molecular genetics and metabolism.

[37]  J. Wilson,et al.  The role of androgens in male gender role behavior. , 1999, Endocrine reviews.

[38]  J. Wilson,et al.  Virilization of the male pouch young of the tammar wallaby does not appear to be mediated by plasma testosterone or dihydrotestosterone. , 1999, Biology of reproduction.

[39]  T. Wienker,et al.  The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster. , 1998, American journal of human genetics.

[40]  W. Miller,et al.  Cytochrome b 5 Augments the 17,20-Lyase Activity of Human P450c17 without Direct Electron Transfer* , 1998, The Journal of Biological Chemistry.

[41]  D. Peehl,et al.  Expression and Characterization of Recombinant Type 2 3α-Hydroxysteroid Dehydrogenase (HSD) from Human Prostate: Demonstration of Bifunctional 3α/17β-HSD Activity and Cellular Distribution , 1997 .

[42]  D. Russell,et al.  Expression Cloning and Characterization of Oxidative 17β- and 3α-Hydroxysteroid Dehydrogenases from Rat and Human Prostate* , 1997, The Journal of Biological Chemistry.

[43]  M. J. Bennett,et al.  Steroid recognition and regulation of hormone action: crystal structure of testosterone and NADP+ bound to 3 alpha-hydroxysteroid/dihydrodiol dehydrogenase. , 1997, Structure.

[44]  G. Biggio,et al.  The effects of inhibitors of GABAergic transmission and stress on brain and plasma allopregnanolone concentrations , 1997, British journal of pharmacology.

[45]  F. Labrie,et al.  Molecular Cloning of Human Type 3 3α-Hydroxysteroid Dehydrogenase That Differs from 20α-Hydroxysteroid Dehydrogenase by Seven Amino Acids , 1996 .

[46]  M. J. Bennett,et al.  Mammalian 3α-hydroxysteroid dehydrogenases , 1996, Steroids.

[47]  M. J. Bennett,et al.  Structure of 3 alpha-hydroxysteroid/dihydrodiol dehydrogenase complexed with NADP+. , 1996, Biochemistry.

[48]  L Kruglyak,et al.  Parametric and nonparametric linkage analysis: a unified multipoint approach. , 1996, American journal of human genetics.

[49]  W. Miller,et al.  Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[50]  R. Sparkes,et al.  Localization of multiple human dihydrodiol dehydrogenase (DDH1 and DDH2) and chlordecone reductase (CHDR) genes in chromosome 10 by the polymerase chain reaction and fluorescence in situ hybridization. , 1995, Genomics.

[51]  M. Lewis,et al.  Three-dimensional structure of rat liver 3 alpha-hydroxysteroid/dihydrodiol dehydrogenase: a member of the aldo-keto reductase superfamily. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[52]  M. New,et al.  Molecular cloning of multiple cDNAs encoding human enzymes structurally related to 3α-hydroxysteroid dehydrogenase , 1993, The Journal of Steroid Biochemistry and Molecular Biology.

[53]  D. Russell,et al.  Steroid 5α-Reductase 2 Deficiency , 1993 .

[54]  H. Willard,et al.  Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. , 1992, The Journal of clinical endocrinology and metabolism.

[55]  R. E. Peterson,et al.  A cluster of male pseudohermaphrodites with 5α‐reductase deficiency in Papua New Guinea , 1991 .

[56]  G Vriend,et al.  WHAT IF: a molecular modeling and drug design program. , 1990, Journal of molecular graphics.

[57]  J. Wilson,et al.  Testosterone at high concentrations interacts with the human androgen receptor similarly to dihydrotestosterone. , 1990, Endocrinology.

[58]  P. Guzelian,et al.  Isolation and characterization of cloned cDNAs encoding human liver chlordecone reductase. , 1990, Biochemistry.

[59]  W. Friedrich.  8 Niacin: Nicotinic Acid, Nicotinamide, NAD(P) , 1988 .

[60]  W. Miller,et al.  Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21. , 1987, DNA.

[61]  P. Hall,et al.  Microsomal cytochrome P-450 from neonatal pig testis. Purification and properties of A C21 steroid side-chain cleavage system (17 alpha-hydroxylase-C17,20 lyase). , 1981, The Journal of biological chemistry.

[62]  A. Ruokonen,et al.  The simultaneous radioimmunoassay of seven steroids in human spermatic and peripheral venous blood. , 1977, The Journal of clinical endocrinology and metabolism.

[63]  A. Prader,et al.  STEROID 17, 20‐DESMOLASE DEFICIENCY: A NEW CAUSE OF MALE PSEUDOHERMAPHRODITISM , 1972, Clinical endocrinology.

[64]  T. Ito,et al.  The source of plasma dihydrotestosterone in man. , 1971, The Journal of clinical investigation.

[65]  P. Mclean,et al.  Levels of oxidized and reduced diphosphopyridine nucleotide and triphosphopyridine nucleotide in animal tissues. , 1955, The Biochemical journal.

[66]  Keehyoung Joo,et al.  Improving physical realism, stereochemistry, and side‐chain accuracy in homology modeling: Four approaches that performed well in CASP8 , 2009, Proteins.

[67]  R. Auchus,et al.  Clinical implications of androgen synthesis via 5alpha-reduced precursors. , 2008, Endocrine development.

[68]  T. Ogata,et al.  Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. , 2005, The Journal of clinical endocrinology and metabolism.

[69]  W. Miller,et al.  The genetic and functional basis of isolated 17,20–lyase deficiency , 1997, Nature Genetics.

[70]  J. D. Wilson,et al.  Steroid 5 alpha-reductase: two genes/two enzymes. , 1994, Annual review of biochemistry.

[71]  W L Miller,et al.  Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. , 1987, Proceedings of the National Academy of Sciences of the United States of America.