(Q36671246)

15 August 2017

A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred (English)

1 reference

15 August 2017

1 reference

Douglas Taupin

1

1 reference

15 August 2017

Wesley Lam

2

1 reference

15 August 2017

David Rangiah

3

1 reference

15 August 2017

Larissa McCallum

4

1 reference

15 August 2017

Belinda Whittle

5

1 reference

15 August 2017

Yafei Zhang

6

1 reference

15 August 2017

Daniel Andrews

7

1 reference

15 August 2017

Matthew Field

8

1 reference

15 August 2017

Christopher C Goodnow

9

1 reference

15 August 2017

Matthew C Cook

10

1 reference

15 August 2017

16 April 2015

1 reference

15 August 2017

Human Genome Variation

1 reference

15 August 2017

2

1 reference

15 August 2017

15013

1 reference

Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International

15 August 2017

start time

16 April 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/hgv.2015.13

0 references

cites work

RNF43 is frequently mutated in colorectal and endometrial cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

The R-spondin/Lgr5/Rnf43 module: regulator of Wnt signal strength

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Multiplicity and molecular heterogeneity of colorectal carcinomas in individuals with serrated polyposis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Tumour suppressor RNF43 is a stem-cell E3 ligase that induces endocytosis of Wnt receptors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Cancer risks for relatives of patients with serrated polyposis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

MutationTaster evaluates disease-causing potential of sequence alterations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Serrated pathway colorectal cancer in the population: genetic consideration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Serrated adenoma of the colorectum and the DNA-methylator phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Serrated polyposis: the last (or only the latest?) frontier of familial polyposis?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785559

20 September 2018

Identifiers

DOI

10.1038/HGV.2015.13

1 reference

15 August 2017

1 reference

15 August 2017

1 reference