(Q36714248)

15 August 2017

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis (English)

1 reference

15 August 2017

1

Philippe M Campeau

1 reference

15 August 2017

11

Michael P Whyte

1 reference

15 August 2017

9

Steven Mumm

1 reference

15 August 2017

10

Richard A Gibbs

1 reference

15 August 2017

James T Lu

2

1 reference

15 August 2017

Gautam Sule

3

1 reference

15 August 2017

Ming-Ming Jiang

4

1 reference

15 August 2017

Yangjin Bae

5

1 reference

15 August 2017

Simran Madan

6

1 reference

15 August 2017

Wolfgang Högler

7

1 reference

15 August 2017

Nicholas J Shaw

8

1 reference

15 August 2017

Brendan H Lee

12

1 reference

15 August 2017

language of work or name

1 reference

8 August 2012

1 reference

15 August 2017

Human Molecular Genetics

1 reference

15 August 2017

21

1 reference

15 August 2017

22

1 reference

15 August 2017

4904-4909

1 reference

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Reorganizing the protein space at the Universal Protein Resource (UniProt)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

A framework for variation discovery and genotyping using next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

GeneDistiller--distilling candidate genes from linkage intervals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

The H syndrome is caused by mutations in the nucleoside transporter hENT3.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

The Atlas genome assembly system

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Dysosteosclerosis: clinicoradiologic findings including brain MRI.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Dual-energy X-ray absorptiometry interpretation: a simple equation for height correction in preteenage children

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Osteopetrosis: (Section for the Study of Disease in Children).

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

A new bone syndrome with skin anomalies and neurologic disorders

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3607481

Expanding the clinical spectrum of SLC29A3 gene defects

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDS326

X-linked dysosteosclerosis. Four familial cases

21 January 2018

1 reference

12 December 2020

[Dysosteosclerosis--a special form of generalized osteosclerosis]

1 reference

12 December 2020

Generating Human Osteoclasts from Peripheral Blood

1 reference

12 December 2020

Clinical and radiologic findings in an adult male with dysosteosclerosis

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDS326

1 reference

15 August 2017

1 reference

15 August 2017

1 reference