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PubMed 17391797 The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. BACKGROUND/AIMS: The genetic predisposition on the 1.48 KB 2015-11-23 12 10 2021-12-23
PubMed 17495183 Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. We recently showed that long-term weight reduction changes the gene expression profile of adipose tissu 1.48 KB 2025-10-02 15 5 2021-12-23
PubMed 17572393 Neuroprotective effects of melatonin upon the offspring cerebellar cortex in the rat model of BCNU-induced cortical dysplasia. Cortical dysplasia is a malformation characterized by defects in prolifer 1.89 KB 2015-12-28 8 27 2021-12-23
PubMed 17935240 Somatic and gonadal mosaicism in X-linked retinitis pigmentosa. The g.ORF15 + 652-653delAG mutation in the RPGR gene is the most frequent mutation in X-linked retinitis pigmentosa (XLRP). The objectiv 1.55 KB 2015-11-23 10 0 2021-12-23
PubMed 17962394 Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. AIMS: This study aimed to identify the underlying genetic defect of a large T 1.3 KB 2015-11-23 28 3 2021-12-23
PubMed 18235024 Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. PURPOSE: Cone dystrophy with supernormal rod response (CDSRR) is a retinal disorder characterized by reduce 1.74 KB 2015-11-23 10 1 2021-12-23
PubMed 18408250 A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. OBJECTIVES: Interferon regulatory factor 5 (IRF5) is 1.87 KB 2025-10-02 14 3 2021-12-23
PubMed 18487244 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. We investigated clinical and cellular phenotypes of 24 children with m 1.77 KB 2015-11-24 10 4 2021-12-23
PubMed 18631865 mToR inhibitors-induced proteinuria: mechanisms, significance, and management. Massive urinary protein excretion has been observed after conversion from calcineurin inhibitors to mammalian target of r 999 Bytes 2021-12-23 7 5 2021-12-23
PubMed 18768591 Serum- and glucocorticoid-inducible kinase 1 in doxorubicin-induced nephrotic syndrome. Doxorubicin-induced nephropathy leads to epithelial sodium channel (ENaC)-dependent volume retention and renal f 1.74 KB 2021-12-23 7 12 2021-12-23