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PubMed 10491763 Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. AIMS/HYPOTHESIS: The transcription factor 1.81 KB 2015-11-15 28 32 2021-12-05
PubMed 12442272 D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. More than 100 different heterozygous mutati 1.54 KB 2015-11-17 26 20 2021-12-05
PubMed 15241482 Paraoxonase 1 polymorphisms and survival. The antioxidant enzyme paraoxonase 1 (PON1) has previously been suggested to confer protection against coronary heart disease (CHD), one of the main causes of 1.61 KB 2015-11-19 26 24 2021-12-05
PubMed 15459975 Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chro 1.15 KB 2015-11-19 25 15 2021-12-05
PubMed 16541406 Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC). A relatively high frequency of germ-line genomic 1.36 KB 2015-11-19 26 17 2021-12-05
PubMed 16158428 Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families. Recent reports have demonstrated that mutations in the 898 Bytes 2015-11-19 25 9 2021-12-05
PubMed 16867246 Association of DRD2 polymorphisms and chlorpromazine-induced extrapyramidal syndrome in Chinese schizophrenic patients. AIM: Extrapyramidal syndrome (EPS) is most commonly affected by typical antipsyc 1.65 KB 2025-10-02 45 38 2021-12-05
PubMed 16412238 Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BACKGROUND: Familial partial lipodystrophy (Dunnigan) type 3 (FPL 1.45 KB 2015-11-20 33 22 2021-12-05
PubMed 10661407 Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. We have identified a type II Ca2+-dependent lectin displaying man 1005 Bytes 2015-11-21 26 10 2021-12-05
PubMed 11054569 Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated 983 Bytes 2015-11-21 24 24 2021-12-05