LitCoin_CellLine  

Documents (400) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 28584052 Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essent 1.87 KB 2018-12-27 62 0 2021-12-23
PubMed 15579441 Hypoxia in renal disease with proteinuria and/or glomerular hypertension. Despite the increasing need to identify and quantify tissue oxygenation at the cellular level, relatively few methods have bee 1.47 KB 2015-11-22 57 0 2021-12-23
PubMed 24632946 Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations. The cloaca is temporally formed and eventually divided by the urorectal septum (URS) during 2.11 KB 2019-09-23 56 0 2021-12-23
PubMed 27090298 Circulating Fatty Acid Synthase in pregnant women: Relationship to blood pressure, maternal metabolism and newborn parameters. The enzyme FASN (fatty acid synthase) is potentially related with hyperte 1.5 KB 2017-09-04 52 0 2021-12-23
PubMed 21903317 Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis 1.65 KB 2015-11-26 51 0 2021-12-23
PubMed 20143913 Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. Apparent homozygosity for the mutation p.R315X present on exon 5 of 1.09 KB 2015-11-25 51 0 2021-12-23
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 0 2021-12-23
PubMed 18046082 Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with lipoprotein glomerulopathy. BACKGROUND/AIMS: Lipoprotein glomerulopathy (LPG) is a rare disease chara 1.6 KB 2015-11-23 50 0 2021-12-23
PubMed 16046395 Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a primary target for opioid drugs and peptides, the mu opioid receptor (OPRM1) plays a key role in pain per 1.52 KB 2015-11-19 50 0 2021-12-23
PubMed 8755918 Mutations associated with variant phenotypes in ataxia-telangiectasia. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less sever 1.31 KB 2015-11-27 49 0 2021-12-23