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PubMed 21325775 A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprotein glomerulopathy. Lipoprotein glomerulopathy (LPG) is a rare disease characterized by the presence 1.68 KB 2015-11-26 35 36 2021-12-05
PubMed 20801104 Association study of polymorphisms in the promoter region of DRD4 with schizophrenia, depression, and heroin addiction. This study investigated the possible association between three functional polymo 1.24 KB 2016-01-01 26 30 2021-12-05
PubMed 21135151 Impact of CCR5delta32 host genetic background and disease progression on HIV-1 intrahost evolutionary processes: efficient hypothesis testing through hierarchical phylogenetic models. The interplay be 2.19 KB 2015-11-25 26 21 2021-12-05
PubMed 21070631 The dopamine β-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project. BACKGROUND: The loss of noradrenergic neurones of the locus coeruleus is a 1.75 KB 2016-01-02 28 37 2021-12-05
PubMed 21405999 Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. BACKGROUND: Heterozygous mutations in GUCA1A (MIM # 600364) have been identified to cause autosom 1.5 KB 2015-11-26 29 27 2021-12-05
PubMed 20709368 The fibrinogen gamma 10034C>T polymorphism is not associated with Peripheral Arterial Disease. Conversion of fibrinogen to fibrin plays an essential role in hemostasis and results in stabilization of 1.5 KB 2025-10-02 30 39 2021-12-05
PubMed 20801540 Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. BACKGROUND & AIMS: Aceruloplasminemia is a rare autosomal recessive neurodegenerative 1.84 KB 2015-11-25 50 42 2021-12-05
PubMed 20335448 A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain. CONTEXT: Generalized gluc 1.96 KB 2015-11-25 34 32 2021-12-05
PubMed 20080916 Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripher 1.09 KB 2025-10-02 32 16 2021-12-05
PubMed 19881468 hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type. Human 8-oxoguanine DNA glycosylase 1 (hOGG1) has a major role in the repair of 8-hydroxyguanine, a major promutagenic DNA les 1.48 KB 2025-10-02 27 23 2021-12-05