(Q57233951)

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6 February 2020

title

Mutations in the NRG1 gene are associated with Hirschsprung disease (English)

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6 February 2020

10

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6 February 2020

Yan Chen

11

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6 February 2020

Patrick H Y Chung

13

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6 February 2020

Stacey S. Cherny

17

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6 February 2020

Paul Kwong Hang Tam

18

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Maria-Mercè Garcia-Barcelo

6 February 2020

19

object named as

Maria-Mercè Garcia-Barcelo

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6 February 2020

2

Elly Sau-Wai Ngan

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6 February 2020

7

Thomas Yuk-Yu Leon

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6 February 2020

6

Xiao-Ping Miao

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6 February 2020

Kenneth Kak-Yuen Wong

15

object named as

Kenneth Kak-Yuen Wong

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6 February 2020

16

Pak-Chung Sham

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6 February 2020

3

Wai-Kiu Tang

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6 February 2020

8

Brian Man-Chun Leung

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6 February 2020

12

Ivy Hau-Yee Chan

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6 February 2020

14

Xue-Lai Liu

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6 February 2020

1

Clara Sze-Man Tang

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6 February 2020

Kenneth-Jeremy W.S. Hui

9

object named as

Kenneth-Jeremy W S Hui

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6 February 2020

author name string

Man-Ting So

4

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6 February 2020

Guo Cheng

5

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6 February 2020

publication date

25 June 2011

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6 February 2020

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6 February 2020

volume

131

1 reference

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6 February 2020

issue

1

1 reference

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6 February 2020

page(s)

67-76

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https://scigraph.springernature.com/pub.10.1007/s00439-011-1035-4

6 February 2020

exact match

0 references

cites work

Genetic mapping in human disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Common and rare variants in multifactorial susceptibility to common diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

The neuregulin-I/ErbB signaling system in development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

The transcription factor Sox10 is a key regulator of peripheral glial development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Disruption of ErbB receptor signaling in adult non-myelinating Schwann cells causes progressive sensory loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Neuregulins: functions, forms, and signaling strategies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Discovery of rare variants via sequencing: implications for the design of complex trait association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Domain-specific gene disruption reveals critical regulation of neuregulin signaling by its cytoplasmic tail

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Release of the neuregulin functional polypeptide requires its cytoplasmic tail.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Neuregulin 1 in neural development, synaptic plasticity and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Distinct isoforms of neuregulin are expressed in mesenchymal and neuronal cells during mouse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Neural expression and chromosomal mapping of Neu differentiation factor to 8p12-p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Are rare variants responsible for susceptibility to complex diseases?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Prediction of deleterious human alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

PANTHER: a library of protein families and subfamilies indexed by function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Scoring residue conservation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Colonic Epithelial Expression of ErbB2 Is Required for Postnatal Maintenance of the Enteric Nervous System

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-1035-4

Survival and glial fate acquisition of neural crest cells are regulated by an interplay between the transcription factor Sox10 and extrinsic combinatorial signaling

21 January 2018

1 reference

12 December 2020

Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease

1 reference

12 December 2020

Expression of the c-erbB-3 protein in normal human adult and fetal tissues

1 reference

12 December 2020

Hirschsprung disease, associated syndromes and genetics: a review

1 reference

12 December 2020

A Novel Missense Mutation in the Transmembrane Domain of Neuregulin 1 is Associated with Schizophrenia

1 reference

12 December 2020

10.1007/S00439-011-1035-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21706185%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference