Datasets:
Brizape
/
amia_split_0404

Dataset card Data Studio Files
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8.69k
21128281
[ "Identification", "of", "candidate", "predisposing", "copy", "number", "variants", "in", "familial", "and", "early-onset", "colorectal", "cancer", "patients." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients.
21128281
[ "In", "the", "majority", "of", "colorectal", "cancers", "(CRCs)", "under", "clinical", "suspicion", "for", "a", "hereditary", "cause,", "the", "disease-causing", "genetic", "factors", "are", "still", "to", "be", "discovered.", "To", "identify", "such", "genetic", ...
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In the majority of colorectal cancers (CRCs) under clinical suspicion for a hereditary cause, the disease-causing genetic factors are still to be discovered. To identify such genetic factors we stringently selected a discovery cohort of 41 CRC index patients with microsatellite-stable tumors. All patients were below 40...
21128281
[ "In", "the", "majority", "of", "colorectal", "cancers", "(CRCs)", "under", "clinical", "suspicion", "for", "a", "hereditary", "cause,", "the", "disease-causing", "genetic", "factors", "are", "still", "to", "be", "discovered.", "To", "identify", "such", "genetic", ...
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In the majority of colorectal cancers (CRCs) under clinical suspicion for a hereditary cause, the disease-causing genetic factors are still to be discovered. To identify such genetic factors we stringently selected a discovery cohort of 41 CRC index patients with microsatellite-stable tumors. All patients were below 40...
21128281
[]
[]
9476377
[ "[Familial", "adenomatous", "polyposis", "coli", " ", "in", "the", "Czech", "population.", "I.", "Detection", "of", "an", "additional", "3", "mutations", " ", "out", "of", "a", "total", "of", "7", "in", "exon", "15", "of", "the", "APC", "gene].", "\n\n\n",...
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[Familial adenomatous polyposis coli in the Czech population. I. Detection of an additional 3 mutations out of a total of 7 in exon 15 of the APC gene]. ## BACKGROUND
9476377
[ "Familial", "adenomatous", "polyposis", "(FAP)", "is", "an", "autosomal", "dominant", "inherited", "disease", "characterized", "by", "multiple", "adenomatous", "polyps", "in", "the", "colon", "which", "progress", "to", "carcinoma.", "FAP", "is", "caused", "by", "g...
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Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by multiple adenomatous polyps in the colon which progress to carcinoma. FAP is caused by germ-line mutation of the tumor-suppressor adenomatous polyposis coli (APC) gene, the structure and coding sequence of which have been k...
9476377
[ "##", "METHODS", "AND", "RESULTS" ]
[ 0, 0, 0, 0 ]
## METHODS AND RESULTS
9476377
[ "The", "present", "paper", "is", "the", "first", "part", "of", "an", "analysis", "of", "37", "different", "Czech", "families", "with", "83", "members", "affected", "by", "FAP.", "Our", "goal", "is", "to", "identify", "the", "mutation", "characteristic", "for...
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The present paper is the first part of an analysis of 37 different Czech families with 83 members affected by FAP. Our goal is to identify the mutation characteristic for each family for early diagnosis of FAP. We screened clinically manifest representatives of nine families for mutations in exon 15 of the APC gene. Fi...
9476377
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
9476377
[ "From", "seven", "different", "mutations", "found,", "4", "mutations", "have", "been", "previously", "described", "(mutations", "in", "codons", "935,", "1061,", "1309", "and", "1554),", "3", "mutations", "in", "the", "APC", "gene", "are", "described", "here", ...
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From seven different mutations found, 4 mutations have been previously described (mutations in codons 935, 1061, 1309 and 1554), 3 mutations in the APC gene are described here for the first time, namely the mutations in codons 712, 759 mutations APC exon 15 of the APC gene]. ## BACKGROUND
9476377
[ "Familial", "adenomatous", "polyposis", "(FAP)", "is", "an", "autosomal", "dominant", "inherited", "disease", "characterized", "by", "multiple", "adenomatous", "polyps", "in", "the", "colon", "which", "progress", "to", "carcinoma.", "FAP", "is", "caused", "by", "g...
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Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by multiple adenomatous polyps in the colon which progress to carcinoma. FAP is caused by germ-line mutation of the tumor-suppressor adenomatous polyposis coli ( APC adenomatous polyposis coli (APC) gene, the structure and c...
9476377
[ "##", "METHODS", "AND", "RESULTS" ]
[ 0, 0, 0, 0 ]
## METHODS AND RESULTS
9476377
[ "The", "present", "paper", "is", "the", "first", "part", "of", "an", "analysis", "of", "37", "different", "Czech", "families", "with", "83", "members", "affected", "by", "FAP.", "Our", "goal", "is", "to", "identify", "the", "mutation", "characteristic", "for...
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The present paper is the first part of an analysis of 37 different Czech families with 83 members affected by FAP. Our goal is to identify the mutation characteristic for each family for early diagnosis of FAP. We screened clinically manifest representatives of nine families for mutations in exon 15 of the APC exon 15 ...
9476377
[ "##", "METHODS", "AND", "RESULTS" ]
[ 0, 0, 0, 0 ]
## METHODS AND RESULTS
9476377
[ "The", "present", "paper", "is", "the", "first", "part", "of", "an", "analysis", "of", "37", "different", "Czech", "families", "with", "83", "members", "affected", "by", "FAP.", "Our", "goal", "is", "to", "identify", "the", "mutation", " ", "characteristic",...
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The present paper is the first part of an analysis of 37 different Czech families with 83 members affected by FAP. Our goal is to identify the mutation characteristic for each family for early diagnosis of FAP. We screened clinically manifest representatives of nine families for mutations in exon 15 of the APC gene. ...
9476377
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
9476377
[ "From", "seven", "different", "mutations", "found,", "4", "mutations", "mutations", "deletions", " ", "in", "codons", "1061", "and", "1309,", "1-base", "deletion", "in", "codons", "759", "and", "7-base", "deletion", "combined", "with", "a", "2-base", "insertion"...
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From seven different mutations found, 4 mutations mutations deletions in codons 1061 and 1309, 1-base deletion in codons 759 and 7-base deletion combined with a 2-base insertion in codon 712), one insertion mutation (1-base/A/insertion in codon 1554) and two point mutations (C to T and C to A substitutions in codons ...
9476377
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
9476377
[ "From", "seven", "different", "mutations", "found,", "4", "mutations", "have", "been", "previously", "described", "(", "mutations", "deletion", "deletion", " ", "in", "codons", "759", "and", "7-base", "deletion", "combined", "with", "a", "2-base", "insertion", "...
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From seven different mutations found, 4 mutations have been previously described ( mutations deletion deletion in codons 759 and 7-base deletion combined with a 2-base insertion in codon 712), one insertion mutation (1-base/A/insertion in codon 1554) and two point mutations (C to T and C to A substitutions in codons ...
9476377
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
9476377
[ "From", "seven", "different", "mutations", "found,", "4", "mutations", "have", "been", "previously", "described", "(mutations", "in", "codons", "935", ",", "1061", "insertion", " ", "in", "codon", "712),", "one", "insertion", "mutation", "(1-base/A/insertion", "in...
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From seven different mutations found, 4 mutations have been previously described (mutations in codons 935 , 1061 insertion in codon 712), one insertion mutation (1-base/A/insertion in codon 1554) and two point mutations (C to T and C to A substitutions in codons 737 and 935, respectively, in both cases leading to for...
9476377
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
9476377
[ "From", "seven", "different", "mutations", "found,", "4", "mutations", "have", "been", "previously", "described", "(mutations", "in", "codons", "935,", "1061,", "1309", "substitutions", " ", "in", "codons", "737", "and", "935,", "respectively,", "in", "both", "c...
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From seven different mutations found, 4 mutations have been previously described (mutations in codons 935, 1061, 1309 substitutions in codons 737 and 935, respectively, in both cases leading to formation of stop codons) have been found.
9476377
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
9476377
[ "From", "seven", "different", "mutations", "found,", "4", "mutations", "have", "been", "previously", "described", "(mutations", "in", "codons", "935,", "1061,", "1309", "and", "1554", "insertion", " ", "in", "codon", "1554)", "and", "two", "point", "mutations", ...
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From seven different mutations found, 4 mutations have been previously described (mutations in codons 935, 1061, 1309 and 1554 insertion in codon 1554) and two point mutations (C to T and C to A substitutions in codons 737 and 935, respectively, in both cases leading to formation of stop codons) have been found.
9476377
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
9476377
[ "From", "seven", "different", "mutations", "found,", "4", "mutations", "have", "been", "previously", "described", "(mutations", "in", "codons", "935,", "1061,", "1309", "and", "1554),", "3", "mutations", " ", "in", "the", "APC", "point", "mutations", " ", "(C"...
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From seven different mutations found, 4 mutations have been previously described (mutations in codons 935, 1061, 1309 and 1554), 3 mutations in the APC point mutations (C to T and C to A substitutions in codons 737 and 935, respectively, in both cases leading to formation of stop codons) have been found.
9476377
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
9476377
[ "From", "seven", "different", "mutations", "found,", "4", "mutations", "have", "been", "previously", "described", "(mutations", "in", "codons", "935,", "1061,", "1309", "and", "1554),", "3", "mutations", "in", "the", "APC", "gene", "are", "described", "here", ...
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From seven different mutations found, 4 mutations have been previously described (mutations in codons 935, 1061, 1309 and 1554), 3 mutations in the APC gene are described here for the first time, namely the mutations in codons 712 , 759 and 767 .
9476377
[]
[]
25840688
[ "Genetic", "dissimilarity", "between", "primary", "colorectal", "carcinomas", "and", "their", "lymph", "node", "metastases:", "ploidy,", "p53,", "bcl-2,", "and", "c-myc", "expression--a", "pilot", "study." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
Genetic dissimilarity between primary colorectal carcinomas and their lymph node metastases: ploidy, p53, bcl-2, and c-myc expression--a pilot study.
25840688
[ "The", "current", "paradigm", "of", "metastasis", "proposes", "that", "rare", "cells", "within", "primary", "tumors", "acquire", "metastatic", "capability", "via", "sequential", "mutations,", "suggesting", "that", "metastases", "are", "genetically", "dissimilar", "fro...
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The current paradigm of metastasis proposes that rare cells within primary tumors acquire metastatic capability via sequential mutations, suggesting that metastases are genetically dissimilar from their primary tumors. This study investigated the changes in the level of expression of a well-defined panel of cell prolif...
25840688
[ "The", "current", "paradigm", "of", "metastasis", "proposes", "that", "rare", "cells", "within", "primary", "tumors", "acquire", "metastatic", "capability", "via", "sequential", "mutations,", "suggesting", "that", "metastases", "are", "genetically", "dissimilar", "fro...
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The current paradigm of metastasis proposes that rare cells within primary tumors acquire metastatic capability via sequential mutations, suggesting that metastases are genetically dissimilar from their primary tumors. This study investigated the changes in the level of expression of a well-defined panel of cell prolif...
25840688
[]
[]
23797718
[ "BRAFV600E", "immunohistochemistry", "facilitates", "universal", "screening", "of", "colorectal", "cancers", "for", "Lynch", "syndrome." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome.
23797718
[ "BRAFV600E", "mutation", "in", "microsatellite-unstable", "(MSI)", "colorectal", "carcinomas", "(CRCs)", "virtually", "excludes", "Lynch", "syndrome", "(LS).", "In", "microsatellite-stable", "(MSS)", "CRCs", "it", "predicts", "poor", "prognosis.", "We", "propose", "a", ...
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BRAFV600E mutation in microsatellite-unstable (MSI) colorectal carcinomas (CRCs) virtually excludes Lynch syndrome (LS). In microsatellite-stable (MSS) CRCs it predicts poor prognosis. We propose a universal CRC LS screening algorithm using concurrent reflex immunohistochemistry (IHC) for BRAFV600E and mismatch-repair ...
23797718
[ "BRAFV600E", "mutation", "in", "microsatellite-unstable", "(MSI)", "colorectal", "carcinomas", "(CRCs)", "virtually", "excludes", "Lynch", "syndrome", "(LS).", "In", "microsatellite-stable", "(MSS)", "CRCs", "it", "predicts", "poor", "prognosis.", "We", "propose", "a", ...
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BRAFV600E mutation in microsatellite-unstable (MSI) colorectal carcinomas (CRCs) virtually excludes Lynch syndrome (LS). In microsatellite-stable (MSS) CRCs it predicts poor prognosis. We propose a universal CRC LS screening algorithm using concurrent reflex immunohistochemistry (IHC) for BRAFV600E and mismatch-repair ...
23797718
[ "BRAF", "V600E", " ", "mutation", "in", "microsatellite-unstable", "mutation", " ", "in", "microsatellite-unstable", "(MSI)", "colorectal", "carcinomas", "(CRCs)", "virtually", "excludes", "Lynch", "syndrome", "(LS).", "In", "microsatellite-stable", "(MSS)", "CRCs", "it...
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BRAF V600E mutation in microsatellite-unstable mutation in microsatellite-unstable (MSI) colorectal carcinomas (CRCs) virtually excludes Lynch syndrome (LS). In microsatellite-stable (MSS) CRCs it predicts poor prognosis. We propose a universal CRC LS screening algorithm using concurrent reflex immunohistochemistry...
23797718
[]
[]
10439970
[ "Marfan-like", "habitus", "and", "familial", "adenomatous", "polyposis", "in", "two", "unrelated", "males:", "a", "significant", "association?" ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?
10439970
[ "Familial", "adenomatous", "polyposis", "(FAP)", "can", "be", "considered", "as", "a", "condition", "of", "the", "whole", "body", "as", "extracolonic", "features", "derived", "from", "all", "the", "three", "embryonic", "lineages", "are", "recorded", "with", "var...
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Familial adenomatous polyposis (FAP) can be considered as a condition of the whole body as extracolonic features derived from all the three embryonic lineages are recorded with varying frequency in addition to the presence of multiple adenomas in the large intestine. Here, we describe two unrelated cases of FAP with un...
10439970
[]
[]
11521793
[ "Cancer", "genetics", "in", "oncology", "practice." ]
[ 0, 0, 0, 0, 0 ]
Cancer genetics in oncology practice.
11521793
[ "Cancer", "is", "a", "genetic", "disease", "caused", "by", "the", "progressive", "accumulation", "of", "mutations", " ", "in", "critical", "genes", "that", "control", "cell", "growth", "and", "differentiation.", "Completion", "of", "the", "Human", "Genome", "Pro...
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Cancer is a genetic disease caused by the progressive accumulation of mutations in critical genes that control cell growth and differentiation. Completion of the Human Genome Project promises to revolutionize the practice of Medicine, especially Oncology care. The tremendous gains in the knowledge of the structure an...
11521793
[]
[]
24568449
[ "Associations", "of", "single", "nucleotide", "polymorphisms", "in", "miR-146a,", "miR-196a,", "miR-149", "and", "miR-499", "with", "colorectal", "cancer", "susceptibility.", "\n\n\n", "##", "BACKGROUND" ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
Associations of single nucleotide polymorphisms in miR-146a, miR-196a, miR-149 and miR-499 with colorectal cancer susceptibility. ## BACKGROUND
24568449
[ "MicroRNAs", "(miRNAs)", "are", "an", "abundant", "class", "of", "endogenous", "small", "non-coding", "RNAs", "of", "20-25", "nucleotides", "in", "length", "that", "function", "as", "negative", "gene", "regulators.", "MiRNAs", "play", "roles", "in", "most", "bio...
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MicroRNAs (miRNAs) are an abundant class of endogenous small non-coding RNAs of 20-25 nucleotides in length that function as negative gene regulators. MiRNAs play roles in most biological processes, as well as diverse human diseases including cancer. Recently, many studies investigated the association between SNPs in m...
24568449
[ "##", "METHODOLOGY/PRINCIPAL", "FINDINGS" ]
[ 0, 0, 0 ]
## METHODOLOGY/PRINCIPAL FINDINGS
24568449
[ "PubMed,", "EMBASE,", "CNKI", "databases", "were", "searched", "with", "the", "last", "search", "updated", "on", "November", "5,", "2013.", "For", "miR-196a2", "rs11614913,", "a", "significantly", "decreased", "risk", "of", "CRC", "development", "was", "observed",...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
PubMed, EMBASE, CNKI databases were searched with the last search updated on November 5, 2013. For miR-196a2 rs11614913, a significantly decreased risk of CRC development was observed under three genetic models (dominant model: OR = 0.848, 95%CI: 0.735-0.979, P = 0.025; recessive model: OR = 0.838, 95%CI: 0.721-0.974, ...
24568449
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
24568449
[ "These", "findings", "supported", "that", "the", "miR-196a2", "miR-149", " ", "rs2292832,", "the", "two", "genetic", "models", "(recessive", "model:", "OR", "=", "1.199,", "95%", "CI", "1.028-1.398,", "P", "=", "0.021;", "heterozygous", "model:", "OR", "=", "1...
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These findings supported that the miR-196a2 miR-149 rs2292832, the two genetic models (recessive model: OR = 1.199, 95% CI 1.028-1.398, P = 0.021; heterozygous model: OR = 1.226, 95% CI 1.039-1.447, P = 0.013) demonstrated increased susceptibility to CRC. On subgroup analysis, significantly increased susceptibility o...
24568449
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
24568449
[ "These", "findings", "supported", "that", "the", "miR-196a2", "rs11614913", "and", "miR-149", "rs2292832", "polymorphisms", "miR-149", "rs2910164", ",", "miR-196a2", "rs11614913", ",", "miR-149", "rs229283", ",", "miR-499", "rs3746444", "and", "colorectal", "cancer", ...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 17, 15, 11, 0, 0, 11, 0, 0, 11, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
These findings supported that the miR-196a2 rs11614913 and miR-149 rs2292832 polymorphisms miR-149 rs2910164 , miR-196a2 rs11614913 , miR-149 rs229283 , miR-499 rs3746444 and colorectal cancer (CRC), which results have been inconclusive.
24568449
[ "##", "METHODOLOGY/PRINCIPAL", "FINDINGS" ]
[ 0, 0, 0 ]
## METHODOLOGY/PRINCIPAL FINDINGS
24568449
[ "PubMed,", "EMBASE,", "CNKI", "databases", "were", "searched", "with", "the", "last", "search", "updated", "on", "November", "5,", "2013.", "For", "miR-196a2", "rs11614913", "rs3746444", " ", "and", "colorectal", "cancer", "(CRC),", "which", "results", "have", "...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 11, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
PubMed, EMBASE, CNKI databases were searched with the last search updated on November 5, 2013. For miR-196a2 rs11614913 rs3746444 and colorectal cancer (CRC), which results have been inconclusive.
24568449
[ "##", "METHODOLOGY/PRINCIPAL", "FINDINGS" ]
[ 0, 0, 0 ]
## METHODOLOGY/PRINCIPAL FINDINGS
24568449
[ "PubMed,", "EMBASE,", "CNKI", "databases", "were", "searched", "with", "the", "last", "search", "updated", "on", "November", "5,", "2013.", "For", "miR-196a2", "rs11614913,", "a", "significantly", "decreased", "risk", "of", "CRC", "development", "was", "observed",...
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PubMed, EMBASE, CNKI databases were searched with the last search updated on November 5, 2013. For miR-196a2 rs11614913, a significantly decreased risk of CRC development was observed under three genetic models (dominant model: OR = 0.848, 95%CI: 0.735-0.979, P = 0.025; recessive model: OR = 0.838, 95%CI: 0.721-0.974, ...
24568449
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
24568449
[ "These", "findings", "supported", "that", "the", "miR-196a2", "rs11614913", "and", "miR-149", "rs2292832", "rs11614913", "rs2292832", "single", "nucleotide", "polymorphisms", " ", "in", "miR-146a,", "miR-196a", "miR-146a", ",", "miR-196a,", "miR-149", "and", "miR-499"...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 11, 11, 11, 17, 18, 18, 0, 0, 0, 15, 15, 0, 0, 0, 0, 15, 15, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
These findings supported that the miR-196a2 rs11614913 and miR-149 rs2292832 rs11614913 rs2292832 single nucleotide polymorphisms in miR-146a, miR-196a miR-146a , miR-196a, miR-149 and miR-499 miR-149 and miR-499 with colorectal cancer susceptibility. ## BACKGROUND
24568449
[ "MicroRNAs", "(miRNAs)", "are", "an", "abundant", "class", "of", "endogenous", "small", "non-coding", "RNAs", "of", "20-25", "nucleotides", "in", "length", "that", "function", "as", "negative", "gene", "regulators.", "MiRNAs", "play", "roles", "in", "most", "bio...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 15, 17, 0, 0, 0, 0, 0, 0, 15, 15, 0, 0, 0, 0, 15, 0, 0...
MicroRNAs (miRNAs) are an abundant class of endogenous small non-coding RNAs of 20-25 nucleotides in length that function as negative gene regulators. MiRNAs play roles in most biological processes, as well as diverse human diseases including cancer. Recently, many studies investigated the association between SNPs in m...
24568449
[ "##", "METHODOLOGY/PRINCIPAL", "FINDINGS" ]
[ 0, 0, 0 ]
## METHODOLOGY/PRINCIPAL FINDINGS
24568449
[ "PubMed,", "EMBASE,", "CNKI", "databases", "were", "searched", "with", "the", "last", "search", "updated", "on", "November", "5,", "2013.", "For", "miR-196a2", "rs11614913,", "a", "significantly", "decreased", "risk", "of", "CRC", "development", "was", "observed",...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
PubMed, EMBASE, CNKI databases were searched with the last search updated on November 5, 2013. For miR-196a2 rs11614913, a significantly decreased risk of CRC development was observed under three genetic models (dominant model: OR = 0.848, 95%CI: 0.735-0.979, P = 0.025; recessive model: OR = 0.838, 95%CI: 0.721-0.974, ...
24568449
[ "##", "CONCLUSIONS" ]
[ 0, 0 ]
## CONCLUSIONS
24568449
[ "These", "findings", "supported", "that", "the", "miR-196a2", "rs11614913", "and", "miR-149", "rs2292832", "polymorphisms", "may", "contribute", "to", "susceptibility", "to", "CRC." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
These findings supported that the miR-196a2 rs11614913 and miR-149 rs2292832 polymorphisms may contribute to susceptibility to CRC.
24568449
[]
[]
26446363
[ "Co-occurrence", "of", "nonsense", "mutations", "in", "MSH6", "and", "MSH2", "in", "Lynch", "syndrome", "families", "evidencing", "that", "not", "all", "truncating", "mutations", "are", "equal." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal.
26446363
[ "The", "majority", "of", "pathogenic", "mismatch", "repair", "(MMR)", "gene", "mutations", "detected", "in", "Lynch", "syndrome", "patients", "are", "truncating", "(frameshift", "or", "nonsense).", "However,", "the", "classification", "of", "terminal", "truncating", ...
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The majority of pathogenic mismatch repair (MMR) gene mutations detected in Lynch syndrome patients are truncating (frameshift or nonsense). However, the classification of terminal truncating mutations is sometimes difficult and predictive testing based on non-deleterious variants truncating mutations are equal.
26446363
[ "The", "majority", "of", "pathogenic", "mismatch", "repair", "(MMR)", "gene", "mutations", "detected", "in", "Lynch", "syndrome", "patients", "are", "truncating", "(frameshift", "or", "nonsense).", "However,", "the", "classification", "of", "terminal", "truncating", ...
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The majority of pathogenic mismatch repair (MMR) gene mutations detected in Lynch syndrome patients are truncating (frameshift or nonsense). However, the classification of terminal truncating mutations is sometimes difficult and predictive testing based on non-deleterious variants can have very serious consequences. He...
26446363
[ "The", "majority", "of", "pathogenic", "mismatch", "repair", "(MMR)", "gene", "mutations", " ", "detected", "in", "Lynch", "syndrome", "patients", "are", "truncating", "(frameshift", "or", "nonsense).", "However,", "the", "classification", "of", "terminal", "truncat...
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The majority of pathogenic mismatch repair (MMR) gene mutations detected in Lynch syndrome patients are truncating (frameshift or nonsense). However, the classification of terminal truncating mutations is sometimes difficult and predictive testing based on non-deleterious variants can have very serious consequences...
26446363
[]
[]
9691992
[ "A", "novel", "missense", "mutation", "and", "frameshift", "mutations", "in", "the", "type", "II", "receptor", "of", "transforming", "growth", "factor-beta", "gene", "in", "sporadic", "colon", "cancer", "with", "microsatellite", "instability." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
A novel missense mutation and frameshift mutations in the type II receptor of transforming growth factor-beta gene in sporadic colon cancer with microsatellite instability.
9691992
[ "Microsatellite", "instability", "of", "DNA", "samples", "of", "79", "sporadic", "colon", "cancer", "patients", "were", "analyzed.", "These", "samples", "were", "also", "screened", "to", "search", "mutations", "in", "the", "repeat", "sequences", "in", "the", "ge...
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Microsatellite instability of DNA samples of 79 sporadic colon cancer patients were analyzed. These samples were also screened to search mutations in the repeat sequences in the gene for the type II receptor of transforming growth factor-beta (TGF-beta RII) using polymerase chain reaction (PCR), electrophoresis with ur...
9691992
[ "Microsatellite", "instability", "of", "DNA", "samples", "of", "79", "sporadic", "colon", "cancer", "patients", "were", "analyzed.", "These", "samples", "were", "also", "screened", "to", "search", "mutations", "in", "the", "repeat", "sequences", "in", "the", "ge...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
Microsatellite instability of DNA samples of 79 sporadic colon cancer patients were analyzed. These samples were also screened to search mutations in the repeat sequences in the gene for the type II receptor of transforming growth factor-beta (TGF-beta RII) using polymerase chain reaction (PCR), electrophoresis with ur...
9691992
[ "Microsatellite", "instability", "of", "DNA", "samples", "of", "79", "sporadic", "colon", "cancer", "patients", "were", "analyzed.", "These", "samples", "were", "also", "screened", "to", "search", "mutations", "in", "the", "repeat", "sequences", "in", "the", "ge...
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Microsatellite instability of DNA samples of 79 sporadic colon cancer patients were analyzed. These samples were also screened to search mutations in the repeat sequences in the gene for the type II receptor of transforming growth factor-beta (TGF-beta RII) using polymerase chain reaction (PCR), electrophoresis with ...
9691992
[]
[]
22376259
[ "Linkage", "disequilibrium", "and", "haplotype", "analysis", "of", "COX-2", "and", "risk", "of", "colorectal", "adenoma", "development." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
Linkage disequilibrium and haplotype analysis of COX-2 and risk of colorectal adenoma development.
22376259
[ "Single", "nucleotide", "polymorphisms", "(SNPs)", "in", "the", "promoter", "and", "untranslated", "region", "of", "cyclooxygenase", "(COX)-2,", "an", "inducible", "enzyme", "responsible", "for", "the", "synthesis", "of", "prostaglandins,", "have", "been", "reported",...
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Single nucleotide polymorphisms (SNPs) in the promoter and untranslated region of cyclooxygenase (COX)-2, an inducible enzyme responsible for the synthesis of prostaglandins, have been reported to modulate the risk for many human cancers. We performed comprehensive linkage disequilibrium (LD) and haplotype analyses of ...
22376259
[ "Single", "nucleotide", "polymorphisms", "(", "SNPs", "Single", "nucleotide", "polymorphisms", " ", "(SNPs)", "in", "the", "promoter", "and", "untranslated", "region", "of", "cyclooxygenase", "(COX)-2,", "an", "inducible", "enzyme", "responsible", "for", "the", "syn...
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Single nucleotide polymorphisms ( SNPs Single nucleotide polymorphisms (SNPs) in the promoter and untranslated region of cyclooxygenase (COX)-2, an inducible enzyme responsible for the synthesis of prostaglandins, have been reported to modulate the risk for many human cancers. We performed comprehensive linkage diseq...
22376259
[]
[]
23012243
[ "The", "frequency", "of", "previously", "undetectable", "deletions", "involving", "3'", "Exons", "of", "the", "PMS2", "gene." ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
23012243
[ "Lynch", "syndrome", "is", "characterized", "by", "mutations", "in", "one", "of", "four", "mismatch", "repair", "genes,", "MLH1,", "MSH2,", "MSH6,", "or", "PMS2.", "Clinical", "mutation", "analysis", "of", "these", "genes", "includes", "sequencing", "of", "exoni...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
Lynch syndrome is characterized by mutations in one of four mismatch repair genes, MLH1, MSH2, MSH6, or PMS2. Clinical mutation analysis of these genes includes sequencing of exonic regions and deletion/duplication analysis. However, detection of deletions and duplications in PMS2 has previously been confined to Exons ...
23012243
[ "Lynch", "syndrome", "is", "characterized", "by", "mutations", "in", "one", "of", "four", "mismatch", "repair", "genes,", "MLH1,", "MSH2,", "MSH6,", "or", "PMS2.", "Clinical", "mutation", "analysis", "of", "these", "genes", "includes", "sequencing", "of", "exoni...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
Lynch syndrome is characterized by mutations in one of four mismatch repair genes, MLH1, MSH2, MSH6, or PMS2. Clinical mutation analysis of these genes includes sequencing of exonic regions and deletion/duplication analysis. However, detection of deletions and duplications in PMS2 has previously been confined to Exons ...
23012243
[ "Lynch", "syndrome", "is", "characterized", "by", "mutations", "in", "one", "of", "four", "mismatch", "repair", "genes,", "MLH1,", "MSH2,", "MSH6,", "or", "PMS2.", "Clinical", "mutation", "analysis", "of", "these", "genes", "includes", "sequencing", "of", "exoni...
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Lynch syndrome is characterized by mutations in one of four mismatch repair genes, MLH1, MSH2, MSH6, or PMS2. Clinical mutation analysis of these genes includes sequencing of exonic regions and deletion/duplication analysis. However, detection of deletions and duplications in PMS2 has previously been confined to Exons ...
23012243
[ "Lynch", "syndrome", "is", "characterized", "by", "mutations", "in", "one", "of", "four", "mismatch", "repair", "genes,", "MLH1,", "MSH2,", "MSH6,", "or", "PMS2.", "Clinical", "mutation", "analysis", "of", "these", "genes", "includes", "sequencing", "of", "exoni...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...
Lynch syndrome is characterized by mutations in one of four mismatch repair genes, MLH1, MSH2, MSH6, or PMS2. Clinical mutation analysis of these genes includes sequencing of exonic regions and deletion/duplication analysis. However, detection of deletions and duplications in PMS2 has previously been confined to Exons ...
23012243
[]
[]
25029911
[ "Egr-1", "regulates", "the", "transcription", "of", "NGX6", "gene", "through", "a", "Sp1/Egr-1", "overlapping", "site", "in", "the", "promoter.", "\n\n\n", "##", "BACKGROUND" ]
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
Egr-1 regulates the transcription of NGX6 gene through a Sp1/Egr-1 overlapping site in the promoter. ## BACKGROUND
25029911
[ "As", "a", "novel", "candidate", "metastasis", "suppressor", "gene,", "Nasopharyngeal", "carcinoma-associated", "gene", "6", "(NGX6)", "is", "involved", "in", "cellular", "growth,", "cell", "cycle", "progression", "and", "tumor", "angiogenesis.", "Previous", "studies"...
[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]
As a novel candidate metastasis suppressor gene, Nasopharyngeal carcinoma-associated gene 6 (NGX6) is involved in cellular growth, cell cycle progression and tumor angiogenesis. Previous studies have shown that NGX6 gene is down-regulated in colorectal cancer (CRC). However, little is known about its transcriptional re...
25029911
[ "##", "RESULTS" ]
[ 0, 0 ]
## RESULTS
25029911
[ "We", "defined", "the", "minimal", "promoter", "of", "NGX6", "gene", "in", "a", "186-bp", "region", "(from-86", "to", "+100)", "through", "mutation", "construct", "methods", "and", "luciferase", "assays.", "Results", "from", "Electrophoretic", "mobility", "shift",...
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We defined the minimal promoter of NGX6 gene in a 186-bp region (from-86 to +100) through mutation construct methods and luciferase assays. Results from Electrophoretic mobility shift assays (EMSA) and Chromatin immunoprecipitation (ChIP) revealed that Early growth response gene 1 (Egr-1) binds to the Sp1/Egr-1 overlap...
25029911
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As a novel candidate metastasis suppressor gene, Nasopharyngeal carcinoma-associated gene 6 (NGX6) is involved in cellular growth, cell cycle progression and tumor angiogenesis. Previous studies have shown that NGX6 gene is down-regulated in colorectal cancer (CRC). However, little is known about its transcriptional re...
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[ "##", "RESULTS" ]
[ 0, 0 ]
## RESULTS
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We defined the minimal promoter of NGX6 gene in a 186-bp region (from-86 to +100) through mutation construct methods and luciferase assays. Results from Electrophoretic mobility shift assays (EMSA) and Chromatin immunoprecipitation (ChIP) revealed that Early growth response gene 1 (Egr-1) binds to the Sp1/Egr-1 overlap...
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[ "##", "CONCLUSION" ]
[ 0, 0 ]
## CONCLUSION
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These results demonstrate that Egr-1 Nasopharyngeal carcinoma-associated gene 6 ( NGX6 ) is involved in cellular growth, cell cycle progression and tumor angiogenesis. Previous studies have shown that NGX6 gene is down-regulated in colorectal cancer (CRC). However, little is known about its transcriptional regulati...
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[ "##", "RESULTS" ]
[ 0, 0 ]
## RESULTS
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We defined the minimal promoter of NGX6 gene in a 186-bp region (from-86 to +100) through mutation construct methods and luciferase assays. Results from Electrophoretic mobility shift assays (EMSA) and Chromatin immunoprecipitation (ChIP) revealed that Early growth response gene 1 (Egr-1) binds to the Sp1/Egr-1 overl...
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[ "##", "CONCLUSION" ]
[ 0, 0 ]
## CONCLUSION
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These results demonstrate that Egr-1 regulates NGX6 gene transcription through an overlapping Sp1/ Egr-1 Sp1 Early growth response gene 1 (Egr-1) binds to the Sp1/Egr-1 overlapping site of NGX6 minimal promoter. Overexpression of Egr-1 increased the promoter activity and mRNA level of NGX6 gene; while knock-down of e...
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[ "##", "CONCLUSION" ]
[ 0, 0 ]
## CONCLUSION
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These results demonstrate that Egr-1 regulates NGX6 gene transcription through an overlapping Sp1/Egr-1 binding site as a positive regulator of NGX6 Egr-1 mutation construct methods and luciferase assays. Results from Electrophoretic mobility shift assays (EMSA) and Chromatin immunoprecipitation (ChIP) revealed that ...