> top > projects > kaiyin_test > docs
kaiyin_test  

Documents (250) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
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 62
-
PubMed 24808909 Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts. Estimates from large scale genome sequencing studies indi 898 Bytes 2019-09-23 33 7
-
PubMed 25157153 Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Peroxisome proliferator-activated receptor gamma (PPARG) is a master 1.61 KB 2019-09-23 35 26
-
PubMed 25954247 Mutant p53 - Heat Shock Response Oncogenic Cooperation: A New Mechanism of Cancer Cell Survival. The main tumor suppressor function of p53 as a "guardian of the genome" is to respond to cellular stres 1.06 KB 2019-09-23 34 25
-
PubMed 25805808 Loss-of-function de novo mutations play an important role in severe human neural tube defects. BACKGROUND: Neural tube defects (NTDs) are very common and severe birth defects that are caused by failur 1.28 KB 2019-09-23 31 20
-
PubMed 25915599 Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. A typical human exome harbors dozens of loss-of-function (LOF) var 1.15 KB 2019-09-23 32 14
-
PubMed 26197705 Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. Melanocortin 1 receptor (MC1R), a Gs protein-coupled receptor of the mel 1.22 KB 2019-09-23 32 33
-
PubMed 26331536 Gain-of-function p53 mutants co-opt chromatin pathways to drive cancer growth. TP53 (which encodes p53 protein) is the most frequently mutated gene among all human cancers. Prevalent p53 missense muta 1.16 KB 2019-09-23 32 45
-
PubMed 26494468 DNA damage-induced ephrin-B2 reverse signaling promotes chemoresistance and drives EMT in colorectal carcinoma harboring mutant p53. Mutation in the TP53 gene positively correlates with increased inci 1.78 KB 2019-09-23 36 33
-
PubMed 26586530 Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia. Proprotein convertase subtilisin kexin type 9 (PCSK9) is a critica 2.04 KB 2019-09-23 38 20
-