Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence (Q33863252)

29 July 2017

title

Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence (English)

1 reference

29 July 2017

1 reference

5

Eric D Green

1 reference

29 July 2017

4

Matthew E Portnoy

1 reference

29 July 2017

7

Aravinda Chakravarti

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29 July 2017

1

Carl S Kashuk

1 reference

29 July 2017

6

Arend Sidow

1 reference

29 July 2017

2

Eric A Stone

1 reference

29 July 2017

Elizabeth A Grice

3

1 reference

29 July 2017

Andrew S McCallion

series ordinal

8

1 reference

29 July 2017

language of work or name

English

0 references

publication date

13 June 2005

1 reference

Proceedings of the National Academy of Sciences of the United States of America

29 July 2017

published in

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29 July 2017

volume

102

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29 July 2017

issue

25

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29 July 2017

page(s)

8949-8954

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Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

SIFT: Predicting amino acid changes that affect protein function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Segregation at three loci explains familial and population risk in Hirschsprung disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Inference of functional regions in proteins by quantification of evolutionary constraints

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

The RET receptor: function in development and dysfunction in congenital malformation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Molecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding site

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Functional analysis of RET with Hirschsprung mutations affecting its kinase domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

SOSUI: classification and secondary structure prediction system for membrane proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Pfam: a comprehensive database of protein domain families based on seed alignments

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Prediction of complete gene structures in human genomic DNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

A simple method for displaying the hydropathic character of a protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Amino acid difference formula to help explain protein evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Protein volume in solution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Basic local alignment search tool

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Genomic variation in multigenic traits: Hirschsprung disease

5 July 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0503259102

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0503259102

A structural EM algorithm for phylogenetic inference.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0503259102

Intrinsic secondary structure propensities of the amino acids, using statistical phi-psi matrices: comparison with experimental scales.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0503259102

Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1157046

Amino acid substitutions in the human genome: evolutionary implications of single nucleotide polymorphisms.

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15956201

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0503259102

1 reference

release_zr4csob6mrelhmf2hqttjcx7dy

29 July 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zr4csob6mrelhmf2hqttjcx7dy

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

1157046

1 reference

29 July 2017

1 reference