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PubMed 17065198 Analysis of skin cancer risk factors in immunosuppressed renal transplant patients shows high levels of UV-specific tandem CC to TT mutations of the p53 gene. Immunosuppressed renal transplant recipie 1.78 KB 2015-11-23 27 44 2021-12-05
PubMed 17059986 A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 year 1.74 KB 2015-11-23 36 34 2021-12-05
PubMed 17003357 A haplotype-based analysis of the PTPN22 locus in type 1 diabetes. A recent addition to the list of widely confirmed type 1 diabetes risk loci is the PTPN22 gene encoding a lymphoid-specific phosphata 1.38 KB 2015-11-23 27 22 2021-12-05
PubMed 16391785 Homozygous deletion and reduced expression of the DOCK8 gene in human lung cancer. A homozygous deletion of the DOCK8 (dedicator of cytokinesis 8) locus at chromosome 9p24 was found in a lung cancer c 1.46 KB 2015-11-20 27 26 2021-12-05
PubMed 16252083 Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression. The response of the cell to DNA damage and its ability to maintain genomic stability by DNA repair are c 1.62 KB 2015-11-19 28 32 2021-12-05
PubMed 16186368 Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. PURPOSE: Mutations of the CYP4V2 gene, a novel family member of the cytochrome P450 genes on chromosome 4q35, have rece 1.8 KB 2015-11-19 26 27 2021-12-05
PubMed 16181814 Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. Alpers syndrome is an autosomal recessive mitochondrial DNA depletion di 1.73 KB 2015-11-19 42 29 2021-12-05
PubMed 16051693 Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD). Phosphatidylethanolamine N-methyltransferase (PEMT) catalyzes phosphatidylcholine synthesis. PEMT knockout 1004 Bytes 2015-11-19 44 29 2021-12-05
PubMed 15983230 Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. Impaired insulin secretion is a f 1.14 KB 2025-10-02 29 31 2021-12-05
PubMed 15951966 Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH. BACKGROUND: Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous chan 1.35 KB 2015-11-19 42 17 2021-12-05