Steroid 5 alpha-reductase 2 deficiency.

The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev (2010) 4.95

Cholic acid mediates negative feedback regulation of bile acid synthesis in mice. J Clin Invest (2002) 1.84

Estrogen and androgen signaling in the pathogenesis of BPH. Nat Rev Urol (2011) 1.52

Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia. Proc Natl Acad Sci U S A (1997) 1.30

Prenatal endocrine influences on sexual orientation and on sexually differentiated childhood behavior. Front Neuroendocrinol (2011) 1.22

Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder. J Clin Endocrinol Metab (2008) 1.21

Androgens and spermatogenesis: lessons from transgenic mouse models. Philos Trans R Soc Lond B Biol Sci (2010) 1.16

Targeting 5α-reductase for prostate cancer prevention and treatment. Nat Rev Urol (2011) 1.06

Unexpected virilization in male mice lacking steroid 5 alpha-reductase enzymes. Endocrinology (2001) 1.06

Relative potency of testosterone and dihydrotestosterone in preventing atrophy and apoptosis in the prostate of the castrated rat. J Clin Invest (1996) 1.06

Molecular mechanisms involving prostate cancer racial disparity. Am J Transl Res (2009) 1.02

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet (2011) 1.00

Unique bisphenol A transcriptome in prostate cancer: novel effects on ERbeta expression that correspond to androgen receptor mutation status. Environ Health Perspect (2007) 0.95

Prenatal testosterone and dihydrotestosterone exposure disrupts ovine testicular development. Reproduction (2011) 0.92

Transcriptional regulation of the mouse steroid 5alpha-reductase type II gene by progesterone in brain. Nucleic Acids Res (2002) 0.92

Testosterone and sport: current perspectives. Horm Behav (2011) 0.90

The steroid metabolome of adrenarche. J Endocrinol (2012) 0.90

Disorders of sex development: diagnostic approaches and management options-an islamic perspective. Malays J Med Sci (2011) 0.89

Chrousos syndrome: a seminal report, a phylogenetic enigma and the clinical implications of glucocorticoid signalling changes. Eur J Clin Invest (2010) 0.87

Hypospadias and anorectal malformations mediated by Eph/ephrin signaling. J Pediatr Urol (2007) 0.86

Androgen receptor exon 1 mutation causes androgen insensitivity by creating phosphorylation site and inhibiting melanoma antigen-A11 activation of NH2- and carboxyl-terminal interaction-dependent transactivation. J Biol Chem (2012) 0.85

46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5alpha-Reductase-2 Deficiency, or 17beta-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes. Int J Pediatr Endocrinol (2009) 0.84

Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias. Reprod Biol Endocrinol (2007) 0.84

Molecular Basis of Steroid Action in the Prostate. Cellscience (2005) 0.83

Codon 89 polymorphism in the human 5 alpha-reductase gene in primary breast cancer. Br J Cancer (2001) 0.82

A novel mutation of 5alpha-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment. Eur J Pediatr (2010) 0.81

Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome. J Clin Endocrinol Metab (2016) 0.81

Quantitative histomorphometric analysis of gonadal steroid receptor distribution in the normal human endometrium through the menstrual cycle. Histochem Cell Biol (2005) 0.79

Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2). Mol Pathol (1997) 0.78

Pilot Study of 15 Patients Receiving a New Treatment Regimen for Androgenic Alopecia: The Effects of Atopy on AGA. ISRN Dermatol (2011) 0.78

5 alpha-reductase deficiency in patients with micropenis. J Inherit Metab Dis (1997) 0.78

Female mice with deletion of Type One 5α-reductase have reduced reproductive responding during proestrus and after hormone-priming. Pharmacol Biochem Behav (2014) 0.78

Endocrine and adrenergic pharmacological intervention in diseases of the prostate. Br J Clin Pharmacol (1998) 0.78

Androgen resistance in squirrel monkeys (Saimiri spp.). Comp Med (2008) 0.78

Regulation of steroid 5-alpha reductase type 2 (Srd5a2) by sterol regulatory element binding proteins and statin. Exp Cell Res (2009) 0.77

The effect of 5α-reductase-2 deficiency on human fertility. Fertil Steril (2014) 0.76

Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development. Int J Mol Sci (2011) 0.76

Male pseudohermaphroditism due to 5 alpha-reductase-2 deficiency in an Arab kindred. Postgrad Med J (1997) 0.75

5-alpha-reductase 2 deficiency in a woman with primary amenorrhea. Case Rep Endocrinol (2013) 0.75

Characterization of rat 5alpha-reductases type 1 and type 2 expressed in Saccharomyces cerevisiae. Biochem J (1996) 0.75

Hair loss and regeneration performed on animal models. Clujul Med (2016) 0.75

Androgen receptor accelerates premature senescence of human dermal papilla cells in association with DNA damage. PLoS One (2013) 0.75

46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene. Mol Genet Genomic Med (2014) 0.75

Pregnancy without progesterone in horses defines a second endogenous biopotent progesterone receptor agonist, 5α-dihydroprogesterone. Proc Natl Acad Sci U S A (2014) 0.75

Safety and Tolerability of the Dual 5-Alpha Reductase Inhibitor Dutasteride in the Treatment of Androgenetic Alopecia. Ann Dermatol (2016) 0.75

Sleep deprivation alters rat ventral prostate morphology, leading to glandular atrophy: a microscopic study contrasted with the hormonal assays. J Biomed Biotechnol (2012) 0.75

Association between SRD5A2 rs523349 and rs9282858 Polymorphisms and Risk of Benign Prostatic Hyperplasia: A Meta-Analysis. Front Physiol (2017) 0.75

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell (1984) 12.54

Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Annu Rev Cell Biol (1985) 11.53

Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme. J Biol Chem (1989) 11.06

Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev (1997) 8.51

The LDL receptor gene: a mosaic of exons shared with different proteins. Science (1985) 5.49

Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33

Infectious clones and vectors derived from adeno-associated virus (AAV) serotypes other than AAV type 2. J Virol (1998) 4.71

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science (1985) 4.51

Domain map of the LDL receptor: sequence homology with the epidermal growth factor precursor. Cell (1984) 4.21

The hypoxia-responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development. Genes Dev (1998) 4.11

The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis. J Biol Chem (1987) 3.84

Expression cloning of a diphtheria toxin receptor: identity with a heparin-binding EGF-like growth factor precursor. Cell (1992) 3.81

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell (1986) 3.44

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet (1990) 3.40

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia. Cell (1987) 3.31

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. Cell (1985) 3.13

Nucleotide sequence of the yeast alcohol dehydrogenase II gene. J Biol Chem (1983) 2.82

Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit. Science (1986) 2.76

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region. Nature (1987) 2.74

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem (1991) 2.70

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J Biol Chem (1987) 2.67

Nucleotide sequence of 3-hydroxy-3-methyl-glutaryl coenzyme A reductase, a glycoprotein of endoplasmic reticulum. Nature (1984) 2.66

Transduction by adeno-associated virus vectors in the rabbit airway: efficiency, persistence, and readministration. J Virol (1997) 2.65

Reasoned action and social reaction: willingness and intention as independent predictors of health risk. J Pers Soc Psychol (1998) 2.55

DNA sequences of two yeast promoter-up mutants. Nature (1983) 2.50

DNA-damaging agents greatly increase the transduction of nondividing cells by adeno-associated virus vectors. J Virol (1994) 2.50

Hemimethylation prevents DNA replication in E. coli. Cell (1987) 2.48

Direct and moderating effects of community context on the psychological well-being of African American women. J Pers Soc Psychol (2000) 2.47

Marked reduction in bile acid synthesis in cholesterol 7alpha-hydroxylase-deficient mice does not lead to diminished tissue cholesterol turnover or to hypercholesterolemia. J Lipid Res (1998) 2.46

Mutational analysis of the ligand binding domain of the low density lipoprotein receptor. J Biol Chem (1988) 2.43

Structure of the Saccharomyces cerevisiae HO gene and analysis of its upstream regulatory region. Mol Cell Biol (1986) 2.36

Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet (1994) 2.35

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. J Biol Chem (1987) 2.29

Repeat transduction in the mouse lung by using adeno-associated virus vectors with different serotypes. J Virol (2000) 2.26

Persistent expression of human clotting factor IX from mouse liver after intravenous injection of adeno-associated virus vectors. Proc Natl Acad Sci U S A (1997) 2.22

cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. Proc Natl Acad Sci U S A (1999) 2.20

Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. Proc Natl Acad Sci U S A (1997) 2.15

Characterization of transposable element-associated mutations that alter yeast alcohol dehydrogenase II expression. Mol Cell Biol (1983) 2.09

Deletions and single base pair changes in the yeast mating type locus that prevent homothallic mating type conversions. Proc Natl Acad Sci U S A (1983) 2.09

The syndromes of androgen resistance. N Engl J Med (1980) 2.05

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc Natl Acad Sci U S A (1986) 2.04

42 bp element from LDL receptor gene confers end-product repression by sterols when inserted into viral TK promoter. Cell (1987) 2.03

Adeno-associated virus vector integration junctions. J Virol (1997) 2.03

The metabolism of aromatic compounds in higer plants. X. Properties of the cinnamic acid 4-hydroxylase of pea seedlings and some aspects of its metabolic and developmental control. J Biol Chem (1971) 2.02

Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem (1991) 2.01

Cassette of eight exons shared by genes for LDL receptor and EGF precursor. Science (1985) 1.99

cDNA cloning of the bovine low density lipoprotein receptor: feedback regulation of a receptor mRNA. Proc Natl Acad Sci U S A (1983) 1.98

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med (1987) 1.96

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia. J Biol Chem (1986) 1.94

Overexpression of low density lipoprotein (LDL) receptor eliminates LDL from plasma in transgenic mice. Science (1988) 1.91

The hormonal control of sexual development. Science (1981) 1.88

Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. J Clin Invest (1993) 1.88

Disruption of cholesterol 7alpha-hydroxylase gene in mice. I. Postnatal lethality reversed by bile acid and vitamin supplementation. J Biol Chem (1996) 1.87

Aerobic exercise, but not flexibility/resistance exercise, reduces serum IL-18, CRP, and IL-6 independent of beta-blockers, BMI, and psychosocial factors in older adults. Brain Behav Immun (2006) 1.86

Deduced primary structure of the alpha subunit of the GTP-binding stimulatory protein of adenylate cyclase. Proc Natl Acad Sci U S A (1986) 1.86

cDNA cloning of mouse and human cholesterol 25-hydroxylases, polytopic membrane proteins that synthesize a potent oxysterol regulator of lipid metabolism. J Biol Chem (1998) 1.86

The parturition defect in steroid 5alpha-reductase type 1 knockout mice is due to impaired cervical ripening. Mol Endocrinol (1999) 1.83

Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome. Ann Intern Med (1976) 1.81

Climate change and the integrity of science. Science (2010) 1.80

Disruption of cholesterol 7alpha-hydroxylase gene in mice. II. Bile acid deficiency is overcome by induction of oxysterol 7alpha-hydroxylase. J Biol Chem (1996) 1.80

Cloning and regulation of cholesterol 7 alpha-hydroxylase, the rate-limiting enzyme in bile acid biosynthesis. J Biol Chem (1990) 1.79

Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts. J Biol Chem (1986) 1.79

Introduction of single base substitutions at homologous chromosomal sequences by adeno-associated virus vectors. Mol Ther (2001) 1.77

Disruption of the oxysterol 7alpha-hydroxylase gene in mice. J Biol Chem (2000) 1.76

Conservation of function between mammalian and plant steroid 5alpha-reductases. Proc Natl Acad Sci U S A (1997) 1.75

cDNA cloning and expression of the peptide-binding beta subunit of rat p21ras farnesyltransferase, the counterpart of yeast DPR1/RAM1. Cell (1991) 1.71

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature (1991) 1.69

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest (1998) 1.68

Testosterone at high concentrations interacts with the human androgen receptor similarly to dihydrotestosterone. Endocrinology (1990) 1.64

Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene. Proc Natl Acad Sci U S A (1985) 1.63

Disruption of the sterol 27-hydroxylase gene in mice results in hepatomegaly and hypertriglyceridemia. Reversal by cholic acid feeding. J Biol Chem (2000) 1.60

Effects of gamma irradiation on the transduction of dividing and nondividing cells in brain and muscle of rats by adeno-associated virus vectors. Hum Gene Ther (1996) 1.60

Androgen abuse by athletes. Endocr Rev (1988) 1.59

Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases. Proc Natl Acad Sci U S A (1990) 1.57

Three direct repeats and a TATA-like sequence are required for regulated expression of the human low density lipoprotein receptor gene. J Biol Chem (1987) 1.56

Blood cholesterol screening influence of fasting state on cholesterol results and management decisions. J Gen Intern Med (2000) 1.55

Dihydrotestosterone binding by cultured human fibroblasts. Comparison of cells from control subjects and from patients with hereditary male pseudohermaphroditism due to androgen resistance. J Clin Invest (1976) 1.55

Design and packaging of adeno-associated virus gene targeting vectors. J Virol (2000) 1.54

Expression cloning and regulation of steroid 5 alpha-reductase, an enzyme essential for male sexual differentiation. J Biol Chem (1989) 1.52

The use and misuse of androgens. Metabolism (1980) 1.52

Testicular feminization in a cat. J Am Vet Med Assoc (1989) 1.51

The effectiveness of psychological interventions for the rehabilitation of low back pain: a randomized controlled trial evaluation. Pain (1992) 1.51

5 alpha-reduced androgens play a key role in murine parturition. Mol Endocrinol (1996) 1.50

Purification and characterization of a ribosome dissociation factor (eukaryotic initiation factor 6) from wheat germ. J Biol Chem (1979) 1.45

Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. J Clin Invest (1991) 1.42

Simple method for determining isoniazid acetylator phenotype. Br Med J (1970) 1.40

Tissue distribution and kinetic characteristics of rat steroid 5 alpha-reductase isozymes. Evidence for distinct physiological functions. J Biol Chem (1992) 1.37

Molecular genetics of steroid 5 alpha-reductase 2 deficiency. J Clin Invest (1992) 1.36

Subcellular localization of 3-hydroxy-3-methylglutaryl coenzyme A reductase in Pisum sativum seedlings. Arch Biochem Biophys (1975) 1.34

Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate. J Biol Chem (1997) 1.33

AvaII polymorphism in the human LDL receptor gene. Nucleic Acids Res (1987) 1.33

Subcellular localization of the prostaglandin system in the rabbit renal papilla. Acta Physiol Scand (1972) 1.32

The cinnamic acid 4-hydroxylase of pea seedlings. Arch Biochem Biophys (1967) 1.32

Alternate pathways of bile acid synthesis in the cholesterol 7alpha-hydroxylase knockout mouse are not upregulated by either cholesterol or cholestyramine feeding. J Lipid Res (2001) 1.30

Job-related stress, social support, and burnout among classroom teachers. J Appl Psychol (1987) 1.26

Gene transfer into murine hematopoietic stem cells with helper-free foamy virus vectors. Blood (2001) 1.25

Cyp7b, a novel brain cytochrome P450, catalyzes the synthesis of neurosteroids 7alpha-hydroxy dehydroepiandrosterone and 7alpha-hydroxy pregnenolone. Proc Natl Acad Sci U S A (1997) 1.25

Packaging cells based on inducible gene amplification for the production of adeno-associated virus vectors. J Virol (1998) 1.25

High-fidelity correction of mutations at multiple chromosomal positions by adeno-associated virus vectors. J Virol (1999) 1.24