Hirschsprung's disease genes and the development of the enteric nervous system (Q41049151)

26 September 2017

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title

Hirschsprung's disease genes and the development of the enteric nervous system (English)

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26 September 2017

Hirschsprung's disease

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Wartiovaara K

1

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26 September 2017

Salo M

series ordinal

2

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26 September 2017

Sariola H

series ordinal

3

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26 September 2017

language of work or name

English

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publication date

1 February 1998

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26 September 2017

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26 September 2017

30

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26 September 2017

1

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26 September 2017

66-74

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The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

26 September 2017

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Genes and lineages in the formation of the enteric nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Postmigratory neural crest cells expressing c-RET display restricted developmental and proliferative capacities

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Severe sensory and sympathetic deficits in mice lacking neurotrophin-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Disruption of the neurotrophin-3 receptor gene trkC eliminates la muscle afferents and results in abnormal movements

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Activation of a novel human transforming gene, ret, by DNA rearrangement

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Mutations of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Loss of function effect of RET mutations causing Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

RET mutations in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

GDNF prevents degeneration and promotes the phenotype of brain noradrenergic neurons in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

GDNF: a potent survival factor for motoneurons present in peripheral nerve and muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

GDNF signalling through the Ret receptor tyrosine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Characterization of a multicomponent receptor for GDNF.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Functional receptor for GDNF encoded by the c-ret proto-oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Glial cell line-derived neurotrophic factor activates the receptor tyrosine kinase RET and promotes kidney morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Renal and neuronal abnormalities in mice lacking GDNF

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Defects in enteric innervation and kidney development in mice lacking GDNF

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Renal agenesis and the absence of enteric neurons in mice lacking GDNF

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Neurturin, a relative of glial-cell-line-derived neurotrophic factor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

X-ray structure of glial cell-derived neurotrophic factor at 1.9 A resolution and implications for receptor binding

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Primary structure, synthesis, and biological activity of rat endothelin, an endothelium-derived vasoconstrictor peptide

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Cloning and functional expression of human cDNA for the ETB endothelin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899808999386

10.3109/07853899808999386

21 January 2018

Identifiers

DOI

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26 September 2017

1 reference