(Q22008702)

English

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

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scholarly article

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A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction (English)

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Hirschsprung disease, cardiac defects, and autonomic dysfunction

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Endothelin converting enzyme 1

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GOA release 2020-03-11

ear development

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GOA release 2020-03-11

1

object named as

R M Hofstra

author given names

R M

author last names

Hofstra

1 reference

6 February 2023

author name string

O Valdenaire

2

author given names

O

author last names

Valdenaire

1 reference

6 February 2023

E Arch

3

author given names

E

author last names

Arch

1 reference

6 February 2023

J Osinga

4

author given names

J

author last names

Osinga

1 reference

6 February 2023

H Kroes

5

author given names

H

author last names

Kroes

1 reference

6 February 2023

B M Löffler

6

author given names

B M

author last names

Löffler

1 reference

6 February 2023

A Hamosh

7

author given names

A

author last names

Hamosh

1 reference

6 February 2023

C Meijers

8

author given names

C

author last names

Meijers

1 reference

6 February 2023

C H Buys

9

author given names

C H

author last names

Buys

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6 February 2023

language of work or name

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publication date

January 1999

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American Journal of Human Genetics

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64

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1

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304-8

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

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

Genes and lineages in the formation of the enteric nervous system

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

Human endothelin-converting enzyme (ECE-1): three isoforms with distinct subcellular localizations

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

Organization of the gene encoding the human endothelin-converting enzyme (ECE-1)

1 reference

https://api.crossref.org/works/10.1086%2F302184

7 January 2021

based on heuristic

inferred from DOI database lookup

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