Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes (Q24629822)

From Wikidata

Jump to navigation Jump to search

scientific article

edit

Language	Label	Description	Also known as
English	Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes	scientific article

Statements

instance of

scholarly article

0 references

title

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes (English)

0 references

author

Lihadh Al-Gazali

series ordinal

2

0 references

Koen Devriendt

series ordinal

9

0 references

Caroline Robson

series ordinal

12

object named as

Caroline Robson

0 references

Didier Lacombe

object named as

Didier Lacombe

series ordinal

8

0 references

Christopher A. Walsh

series ordinal

17

object named as

Christopher A Walsh

0 references

Patricia K. Donahoe

series ordinal

18

object named as

Patricia K Donahoe

0 references

author name string

Sibel Kantarci

series ordinal

1

0 references

R Sean Hill

series ordinal

3

0 references

Dian Donnai

series ordinal

4

0 references

Graeme C M Black

series ordinal

5

0 references

Eric Bieth

series ordinal

6

0 references

Nicolas Chassaing

series ordinal

7

0 references

Ahmad Teebi

series ordinal

10

0 references

Maria Loscertales

series ordinal

11

0 references

Tianming Liu

series ordinal

13

0 references

David T MacLaughlin

series ordinal

14

0 references

Kristin M Noonan

series ordinal

15

0 references

Meaghan K Russell

series ordinal

16

0 references

Barbara R Pober

series ordinal

19

0 references

language of work or name

English

0 references

publication date

August 2007

0 references

published in

Nature Genetics

0 references

volume

39

0 references

issue

8

0 references

page(s)

957-9

0 references

cites work

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

7 April 2017

Megalin and cubilin: multifunctional endocytic receptors

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

7 April 2017

Defective forebrain development in mice lacking gp330/megalin

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

7 April 2017

An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

7 April 2017

The role of megalin (LRP-2/Gp330) during development

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

27 September 2017

Megalin and the neurodevelopmental biology of sonic hedgehog and retinol

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

27 September 2017

Down-regulation of sonic hedgehog expression in pulmonary hypoplasia is associated with congenital diaphragmatic hernia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

27 September 2017

Megalin functions as an endocytic sonic hedgehog receptor

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

27 September 2017

Megalin knockout mice as an animal model of low molecular weight proteinuria.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

27 September 2017

Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

27 September 2017

Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

30 May 2018

Syndrome of ocular and facial anomalies, telecanthus, and deafness

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

30 May 2018

Megalin-mediated reuptake of retinol in the kidneys of mice is essential for vitamin A homeostasis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

28 November 2018

Donnai-Barrow syndrome: four additional patients.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891728

retrieved

28 November 2018

Nitrofen-induced diaphragmatic hernias in rats: an animal model

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/17632512

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG2063

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1627794

Dimensions Publication ID

1017463554

0 references

OpenCitations bibliographic resource ID

1627794

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1627794

PMC publication ID

2891728

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1627794

PubMed publication ID

17632512

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1627794

ResearchGate publication ID

6204915

0 references

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24629822&oldid=2175218919"