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PubMed 25480913 Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. OBJECTIVES: We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with a 1.3 KB 2016-01-22 6 86
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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 52
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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 59
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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 57
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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 32 104
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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 36 121
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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 38 119
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PubMed 26853551 Stem Cell Factor and Interleukin-31 Expression: Association with IgE among Egyptian Patients with Atopic and Nonatopic Bronchial Asthma. Bronchial asthma is a chronic inflammatory disorder which remai 1.8 KB 2017-09-04 5 132
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PubMed 27114909 Transcriptome profiling identifies genes and pathways deregulated upon floxuridine treatment in colorectal cancer cells harboring GOF mutant p53. Mutation in TP53 is a common genetic alteration in hum 1.3 KB 2019-09-23 32 63
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PubMed 27199453 Heterotrimeric G protein signaling in polycystic kidney disease. Autosomal dominant polycystic kidney disease (ADPKD) is a signalopathy of renal tubular epithelial cells caused by naturally occurring 1.82 KB 2017-09-04 5 212
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