SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects (Q58063397)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

title

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

Solute carrier family 10 member 7

16 April 2020

main subject

general chemistry

0 references

1 reference

GOA release 2020-03-11

bone development

1 reference

Solute carrier family 10 (sodium/bile acid cotransporter family), member 7

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

amelogenesis imperfecta

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

1 reference

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16 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Koen L van Gassen

1 reference

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16 April 2020

Céline Huber

1 reference

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16 April 2020

Stephan Sonntag

1 reference

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16 April 2020

Beyhan Tüysüz

1 reference

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16 April 2020

Ercan Mihci

1 reference

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16 April 2020

Elisabeth Steichen-Gersdorf

1 reference

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16 April 2020

Jeanne Amiel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Banu Nur

1 reference

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16 April 2020

Irene Stolte-Dijkstra

1 reference

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16 April 2020

Albertien M van Eerde

1 reference

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16 April 2020

Corstiaan C Breugem

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

Reza Maroofian

1 reference

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16 April 2020

Ehsan Ghayoor Karimiani

1 reference

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16 April 2020

Nathalie Seta

1 reference

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16 April 2020

Dulce Papy-Garcia

1 reference

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16 April 2020

Muriel De La Dure-Molla

1 reference

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16 April 2020

Valérie Cormier-Daire

1 reference

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16 April 2020

Arnold Munnich

1 reference

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16 April 2020

language of work or name

English

0 references

publication date

6 August 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

published in

Nature Communications

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16 April 2020

volume

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16 April 2020

issue

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16 April 2020

page(s)

3087

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Creative Commons Attribution 4.0 International

16 April 2020

start time

6 August 2018

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6078967/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

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Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes

30 November 2018

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Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias

30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate

30 November 2018

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30 November 2018

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Molecular and phylogenetic characterization of a novel putative membrane transporter (SLC10A7), conserved in vertebrates and bacteria

30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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Developmental regulation of the growth plate

30 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078967

The release of parathyroid hormone and the exocytosis of a proteoglycan are modulated by extracellular Ca2+ in a similar manner

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6078967

Heparan sulphate proteoglycans on rat parathyroid cells recycle in low Ca2+ medium

30 November 2018

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A syndrome of joint laxity and impaired tendon integrity in lumican- and fibromodulin-deficient mice

30 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41467-018-05191-8

7 January 2021

inferred from DOI database lookup

Regulation of intra-Golgi membrane transport by calcium

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41467-018-05191-8

7 January 2021

inferred from DOI database lookup

Effects of thapsigargin, an intracellular calcium-mobilizing agent, on synthesis and secretion of cartilage collagen and proteoglycan

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41467-018-05191-8

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/S41467-018-05191-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json

16 April 2020

PubMed publication ID

30082715

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30082715%20AND%20SRC:MED&resulttype=core&format=json