(Q24629822)

2

0 references

Koen Devriendt

9

0 references

Caroline Robson

12

Caroline Robson

0 references

Didier Lacombe

Didier Lacombe

8

0 references

Christopher A. Walsh

17

Christopher A Walsh

0 references

Patricia K. Donahoe

18

Patricia K Donahoe

0 references

author name string

Sibel Kantarci

1

0 references

R Sean Hill

3

0 references

Dian Donnai

4

0 references

Graeme C M Black

5

0 references

Eric Bieth

6

0 references

Nicolas Chassaing

7

0 references

Ahmad Teebi

10

0 references

Maria Loscertales

11

0 references

Tianming Liu

13

0 references

David T MacLaughlin

14

0 references

Kristin M Noonan

15

0 references

Meaghan K Russell

16

0 references

Barbara R Pober

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

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

page(s)

957-9

0 references

issue

8

0 references

cites work

1 reference

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

Megalin and cubilin: multifunctional endocytic receptors

7 April 2017

1 reference

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

Defective forebrain development in mice lacking gp330/megalin

7 April 2017

1 reference

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

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

7 April 2017

1 reference

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

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

7 April 2017

1 reference

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

Megalin and the neurodevelopmental biology of sonic hedgehog and retinol

27 September 2017

1 reference

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

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

27 September 2017

1 reference

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

Megalin functions as an endocytic sonic hedgehog receptor

27 September 2017

1 reference

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

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

27 September 2017

1 reference

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

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

27 September 2017

1 reference

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

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

27 September 2017

1 reference

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

Syndrome of ocular and facial anomalies, telecanthus, and deafness

30 May 2018

1 reference

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

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

30 May 2018

1 reference

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

Donnai-Barrow syndrome: four additional patients.

28 November 2018

1 reference

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

Nitrofen-induced diaphragmatic hernias in rats: an animal model

28 November 2018

1 reference

PubMed

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

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG2063

1 reference

Dimensions Publication ID

1627794

1017463554

0 references

1627794

1 reference

1 reference

1 reference