(Q50318604)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27759031%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

title

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease (English)

1 reference

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25 March 2020

1 reference

8

1 reference

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25 March 2020

author name string

Ahmad Alodaib

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27759031%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Nara Sobreira

2

1 reference

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25 March 2020

Wendy A Gold

3

1 reference

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25 March 2020

Lisa G Riley

4

1 reference

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25 March 2020

Nicole J Van Bergen

5

1 reference

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25 March 2020

Meredith J Wilson

6

1 reference

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25 March 2020

Bruce Bennetts

7

1 reference

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25 March 2020

Corinne Boehm

9

1 reference

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25 March 2020

John Christodoulou

10

1 reference

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25 March 2020

publication date

1 January 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27759031%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

25 March 2020

published in

1 reference

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25 March 2020

volume

25

1 reference

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25 March 2020

issue

1

1 reference

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25 March 2020

page(s)

79-84

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2016.128

25 March 2020

exact match

0 references

cites work

Leigh syndrome: One disorder, more than 75 monogenic causes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Identification of genes potentially regulated by human polynucleotide phosphorylase (hPNPase old-35) using melanoma as a model

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Human mitochondrial RNA decay mediated by PNPase-hSuv3 complex takes place in distinct foci

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Biochemical analyses of the electron transport chain complexes by spectrophotometry.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Human polynucleotide phosphorylase (hPNPase(old-35)): an evolutionary conserved gene with an expanding repertoire of RNA degradation functions

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

PNPASE regulates RNA import into mitochondria

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Exome sequencing identifies the cause of a mendelian disorder

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Targeted capture and massively parallel sequencing of 12 human exomes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Human polynucleotide phosphorylase reduces oxidative RNA damage and protects HeLa cell against oxidative stress

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Polynucleotide phosphorylase: an evolutionary conserved gene with an expanding repertoire of functions

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Defining the domains of human polynucleotide phosphorylase (hPNPaseOLD-35) mediating cellular senescence

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Chapter 18 Analysis of respiratory chain complex assembly with radiolabeled nuclear- and mitochondrial-encoded subunits.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5159763

14 August 2018

Identifiers

DOI

10.1038/EJHG.2016.128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27759031%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

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25 March 2020

PubMed publication ID

27759031

1 reference