(Q64941014)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

1 May 2020

case report

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title

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta (English)

1 reference

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1 May 2020

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12

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1 May 2020

Agnes Bloch-Zupan

14

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1 May 2020

3

Elise Schaefer

1 reference

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1 May 2020

author name string

Virginie Laugel-Haushalter

1

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1 May 2020

Séverine Bär

2

1 reference

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1 May 2020

Corinne Stoetzel

4

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1 May 2020

Véronique Geoffroy

5

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1 May 2020

Yves Alembik

6

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1 May 2020

Naji Kharouf

7

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1 May 2020

Mathilde Huckert

8

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1 May 2020

Pauline Hamm

9

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1 May 2020

Joseph Hemmerlé

10

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1 May 2020

Marie-Cécile Manière

11

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1 May 2020

Hélène Dollfus

13

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1 May 2020

publication date

28 May 2019

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1 May 2020

published in

Frontiers in Genetics

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1 May 2020

volume

10

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1 May 2020

page(s)

504

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Creative Commons Attribution 4.0 International

1 May 2020

copyright license

start time

28 May 2019

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

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12 December 2020

1 reference

12 December 2020

A method and server for predicting damaging missense mutations

1 reference

12 December 2020

DLX3 homeodomain mutations cause tricho-dento-osseous syndrome with novel phenotypes

1 reference

12 December 2020

A review of the principles of radiological assessment of skeletal dysplasias

1 reference

12 December 2020

TheCandida albicansplasma membrane protein Rch1p, a member of the vertebrate SLC10 carrier family, is a novel regulator of cytosolic Ca2+homoeostasis

1 reference

12 December 2020

From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies.

1 reference

12 December 2020

Ion channels, channelopathies, and tooth formation

1 reference

12 December 2020

STIM1 and SLC24A4 Are Critical for Enamel Maturation

1 reference

12 December 2020

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

1 reference

12 December 2020

VaRank: a simple and powerful tool for ranking genetic variants

1 reference

12 December 2020

High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes

1 reference

12 December 2020

SIFT missense predictions for genomes

1 reference

12 December 2020

The plasma membrane protein Rch1 is a negative regulator of cytosolic calcium homeostasis and positively regulated by the calcium/calcineurin signaling pathway in budding yeast.

1 reference

12 December 2020

Non lethal Raine syndrome and differential diagnosis

1 reference

12 December 2020

Demineralization-remineralization dynamics in teeth and bone

1 reference

12 December 2020

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

1 reference

12 December 2020

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.3389/FGENE.2019.00504

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191616%20AND%20SRC:MED&resulttype=core&format=json

1 May 2020

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1 May 2020

PubMed publication ID

31191616

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