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Mutation of LRP1 in cardiac neural crest cells causes congenital heart defects by perturbing outflow...

Mutation of LRP1 in cardiac neural crest cells causes congenital heart defects by perturbing outflow...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7297812

Mutation of LRP1 in cardiac neural crest cells causes congenital heart defects by perturbing outflow lengthening

About this item

Full title

Mutation of LRP1 in cardiac neural crest cells causes congenital heart defects by perturbing outflow lengthening

Publisher

London: Nature Publishing Group UK

Journal title

Communications biology, 2020-06, Vol.3 (1), p.312-312, Article 312

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

The recent recovery of mutations in vesicular trafficking genes causing congenital heart disease (CHD) revealed an unexpected role for the endocytic pathway. We now show that mice with a C4232R missense mutation in Low density lipoprotein receptor related protein 1 (LRP1) exhibit atrioventricular septal defects with double outlet right ventricle.

Alternative Titles

Full title

Mutation of LRP1 in cardiac neural crest cells causes congenital heart defects by perturbing outflow lengthening

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7297812

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7297812

Other Identifiers

ISSN

2399-3642

E-ISSN

2399-3642

DOI

10.1038/s42003-020-1035-9

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