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PubMed 18442320 TLR2 and age-related diseases: potential effects of Arg753Gln and Arg677Trp polymorphisms in acute myocardial infarction. Inflammation is a key component of immune system. It is involved in both defen 1.06 KB 2015-09-16 4 10
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PubMed 14699510 PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Familial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant genetic disorder associated with 1.4 KB 2015-11-18 12 3
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PubMed 20367798 Association between idiopathic achalasia and IL23R gene. BACKGROUND: Idiopathic achalasia is a primary esophageal motor disorder of unknown etiology. Different evidences have been reported in support 1.67 KB 2015-11-25 6 3
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PubMed 18632931 Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel. Familial hemiplegic migraine (FHM) is an autosomal dominant inherited su 1.56 KB 2015-11-24 5 3
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PubMed 23778016 Genetic analysis of common variants in the CMYA5 (cardiomyopathy-associated 5) gene with schizophrenia. Recently, CMYA5 was suggested as a susceptibility gene for schizophrenia based on two independen 1.48 KB 2025-10-02 9 8
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PubMed 19882638 Homozygosity for dominant mutations increases severity of muscle channelopathies. Muscle channelopathies caused by mutations in the SCN4A gene that encodes the muscle sodium channel are transmitted by 1.68 KB 2015-11-25 5 5
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PubMed 17212677 Haemochromatosis gene (HFE) polymorphisms and migraine: an association study. Several studies have suggested that iron metabolism may be involved in the pathogenesis of migraine. Using a case-control 1.01 KB 2015-11-23 6 3
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PubMed 25403839 Functional implications of a psychiatric risk variant within CACNA1C in induced human neurons. Psychiatric disorders have clear heritable risk. Several large-scale genome-wide association studies have 1.36 KB 2015-09-16 5 3
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PubMed 25678012 Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation. Mutations in KCNJ11 cause majority of cases of permanent neon 455 Bytes 2015-09-16 12 5
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PubMed 22740690 X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2). Mutations in the erythroid-specific aminolevulin 1.56 KB 2015-11-26 27 3
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