Inactivating PAPSS2 mutations in a patient with premature pubarche. - Wikidata - wikimedia - TriplyDB

Inactivating PAPSS2 mutations in a patient with premature pubarche.

Inactivating PAPSS2 mutations in a patient with premature pubarche.

http://www.wikidata.org/entity/Q45345365

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A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders The Regulation of Steroid Action by Sulfation and Desulfation Adenosine-5'-phosphosulfate--a multifaceted modulator of bifunctional 3'-phospho-adenosine-5'-phosphosulfate synthases and related enzymes Human genetic disorders and knockout mice deficient in glycosaminoglycan A SULT2A1 genetic variant identified by GWAS as associated with low serum DHEAS does not impact on the actual DHEA/DHEAS ratio Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis.PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.The steroid metabolome of adrenarche MECHANISMS IN ENDOCRINOLOGY: The sexually dimorphic role of androgens in human metabolic disease.High-energy collision-induced dissociation by MALDI TOF/TOF causes charge-remote fragmentation of steroid sulfates.Human PAPS synthase isoforms are dynamically regulated enzymes with access to nucleus and cytoplasm.Diagnosis of diseases of steroid hormone production, metabolism and action.PAPSS2 promotes alkaline phosphates activity and mineralization of osteoblastic MC3T3-E1 cells by crosstalk and Smads signal pathways.Approach to the girl with early onset of pubic hair.Current concepts in disorders of sexual development.Adrenal androgens and androgen precursors-definition, synthesis, regulation and physiologic actions.Adrenal steroidogenesis and congenital adrenal hyperplasia.3'-Phosphoadenosine 5'-phosphosulfate (PAPS) synthases, naturally fragile enzymes specifically stabilized by nucleotide binding Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases Hyperandrogenemia predicts metabolic phenotype in polycystic ovary syndrome: the utility of serum androstenedione.Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.Differences in testosterone and its precursors by sex of the offspring in meconium.Exploring prostate cancer genome reveals simultaneous losses of PTEN, FAS and PAPSS2 in patients with PSA recurrence after radical prostatectomy.The Pathogenesis of Polycystic Ovary Syndrome (PCOS): The Hypothesis of PCOS as Functional Ovarian Hyperandrogenism Revisited.Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence for PAPSS2 as a Longevity Gene AKR1C3-Mediated Adipose Androgen Generation Drives Lipotoxicity in Women With Polycystic Ovary Syndrome.Defective PAPSS2 causes SEMD-PA Placental, renal, and ileal sulfate transporter gene expression in mouse gestation.Plasma and urinary sulfate determination in a cohort with autism.Adrenocorticotropin Acutely Regulates Pregnenolone Sulfate Production by the Human Adrenal In Vivo and In Vitro.Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS Defective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS Profiling intact steroid sulfates and unconjugated steroids in biological fluids by liquid chromatography-tandem mass spectrometry (LC-MS-MS).Autosomal recessive brachyolmia: early radiological findings.Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1.

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Inactivating PAPSS2 mutations in a patient with premature pubarche.

http://www.wikidata.org/entity/Q45345365

description

2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年學術文章

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2009年學術文章

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name

Inactivating PAPSS2 mutations in a patient with premature pubarche.

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Inactivating PAPSS2 mutations in a patient with premature pubarche.

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type

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Inactivating PAPSS2 mutations in a patient with premature pubarche.

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Inactivating PAPSS2 mutations in a patient with premature pubarche.

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Inactivating PAPSS2 mutations in a patient with premature pubarche.

@en

Inactivating PAPSS2 mutations in a patient with premature pubarche.

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The New England Journal of Medicine

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Inactivating PAPSS2 mutations in a patient with premature pubarche.

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Florian Schlereth

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Fred C G J Sweep

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Hedi L Claahsen-van der Grinten

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Jan A Smeitink

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Joanne C McNelis

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Roel Smeets

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Vivek Dhir

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2310-2318

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10.1056/NEJMOA0810489

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22

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360

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2009-05-01T00:00:00Z

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19474428

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