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OpenAlex konusu

Genetic Syndromes and Imprinting

Bu sayfa OpenAlex konu etiketine göre çalışmaları ve o konuda görünen akademisyenleri listeler. YÖKSİS temel alan / yan dal değildir.

OpenAlex 1.797 eser 10 yazar konusu

Çalışmalar

1.797 eser

  1. FGF19 as a Postprandial, Insulin-Independent Activator of Hepatic Protein and Glycogen Synthesis 2011
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.5%

    Fibroblast growth factor (FGF) 19 is an enterokine synthesized and released when bile acids are taken up into the ileum. We show that FGF19 stimulates hepatic protein and glycogen synthesis but does not induce lipogenesis. The effects of FGF19 are independent of the activity of either insulin or the protein kinase Akt…

  2. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible 2006
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.6%

    Özet henüz yok.

  3. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible 2006
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.6%

    Özet henüz yok.

  4. Mutations in INPP5E encoding inositol polyphosphate 5 phosphatase E link phosphatidyl inositol signaling to the ciliopathies 2009
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.4%

    Özet henüz yok.

  5. Loss of trimethylation at lysine 27 of histone H3 is a predictor of poor outcome in breast, ovarian, and pancreatic cancers 2008
    YÖKSİS SJR Q2 JCR Q2 OpenAlex üst %10 OpenAlex 98.0%

    Methylation of lysine 27 on histone H3 (H3K27) by the EZH2 complex is an epigenetic mark that mediates gene silencing. EZH2 is overexpressed in many cancers and correlates with poor prognosis in both breast and prostate cancers. However, the status of H3K27 methylation and its clinical implication in cancer patients h…

  6. 2009 EANM parathyroid guidelines 2009
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 97.4%

    Özet henüz yok.

  7. Autosomal Recessive Mutations in SLC34A1 Encoding Sodium Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia 2016
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.6%

    Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D catabolizing enzyme 25-hydroxyvitamin D3-24-hydroxylase (CYP24A1) were described that lead to increased sensitivity to vitamin D du…

  8. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia 2016
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.6%

    Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D catabolizing enzyme 25-hydroxyvitamin D3-24-hydroxylase (CYP24A1) were described that lead to increased sensitivity to vitamin D du…

  9. Autosomal Recessive Mutations in SLC34A1 Encoding Sodium Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia 2016
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.6%

    Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D catabolizing enzyme 25-hydroxyvitamin D3-24-hydroxylase (CYP24A1) were described that lead to increased sensitivity to vitamin D du…

  10. Methylation quantitative trait loci (meQTLs) are consistently detected across ancestry, developmental stage, and tissue type 2014
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.5%

    BACKGROUND: Individual genotypes at specific loci can result in different patterns of DNA methylation. These methylation quantitative trait loci (meQTLs) influence methylation across extended genomic regions and may underlie direct SNP associations or gene-environment interactions. We hypothesized that the detection o…

  11. Epigenetic mutations of the imprinted IGF2 H19 domain in Silver Russell syndrome SRS results from a large cohort of patients with SRS and SRS like phenotypes 2008
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.1%

    BACKGROUND: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterised by severe intrauterine and postnatal growth retardation. Loss of DNA methylation at the telomeric imprinting control region 1 (ICR1) on 11p15 is an important cause of SRS. METHODS: We studied the methylation…

  12. Mutations in nuclear pore genes NUP93 NUP205 and XPO5 cause steroid resistant nephrotic syndrome 2016
    YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.6%

    Özet henüz yok.

Akademisyenler

10 akademisyen