Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes. - Wikidata - wikimedia - TriplyDB

Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes.

Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes.

http://www.wikidata.org/entity/Q35594917

about

Colorectal cancer and genetic alterations in the Wnt pathway Colorectal cancers in a new mouse model of familial adenomatous polyposis: influence of genetic and environmental modifiers.Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice.Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.Top down or bottom up? Competing management structures in the morphogenesis of colorectal neoplasms.Colorectal cancer prognosis: is it all mutation, mutation, mutation?Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.Segmental resection with primary anastomosis is not always safe in splenic flexure perforation Tumor suppressor genetics.The genetic basis of colonic adenomatous polyposis syndromes Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.APC and its modifiers in colon cancer.A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Tunisian family with FAP.Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.Foxl1 is a mesenchymal Modifier of Min in carcinogenesis of stomach and colon.Porcine familial adenomatous polyposis model enables systematic analysis of early events in adenoma progression.Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype.Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.Genetic dissection of the Mom5 modifier locus and evaluation of Mom5 candidate genes.

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Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes.

http://www.wikidata.org/entity/Q35594917

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I P M Tomlinson

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K Neale

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M D Crabtree

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R K S Phillips

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R S Houlston

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S V Hodgson

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P2860

Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation

Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene

A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36

The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia.

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse.

Variability in the severity of colonic disease in familial adenomatous polyposis results from differences in tumour initiation rather than progression and depends relatively little on patient age.

Analysis of family resemblance. 3. Complex segregation of quantitative traits

Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC.

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12171967

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