Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics (Q24541342)

6 July 2017

title

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics (English)

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6 July 2017

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17

Eric S Lander

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6 July 2017

Jakob Bunkenborg

4

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Robert Sladek

object named as

Robert Sladek

9

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John D. Rioux

object named as

John D Rioux

16

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Terrye A. Delmonte

7

object named as

Terrye Delmonte

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6 July 2017

14

Thomas J Hudson

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6 July 2017

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Vamsi K Mootha

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6 July 2017

Pierre Lepage

2

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6 July 2017

Kathleen Miller

3

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6 July 2017

Michael Reich

5

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6 July 2017

Majbrit Hjerrild

6

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6 July 2017

Amelie Villeneuve

8

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6 July 2017

Fenghao Xu

10

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6 July 2017

Grant A Mitchell

11

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6 July 2017

Charles Morin

12

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6 July 2017

Matthias Mann

13

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6 July 2017

Brian Robinson

15

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6 July 2017

publication date

14 January 2003

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Proceedings of the National Academy of Sciences of the United States of America

6 July 2017

language of work or name

English

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published in

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6 July 2017

volume

100

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6 July 2017

issue

2

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6 July 2017

page(s)

605-610

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BLAT—The BLAST-Like Alignment Tool

6 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity

24 March 2017

1 reference

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A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

Initial sequencing and analysis of the human genome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

Exploring the Metabolic and Genetic Control of Gene Expression on a Genomic Scale

24 March 2017

1 reference

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Prediction of complete gene structures in human genomic DNA

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

The Saccharomyces cerevisiae Pet309 protein is embedded in the mitochondrial inner membrane

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

The product of the nuclear gene PET309 is required for translation of mature mRNA and stability or production of intron-containing RNAs derived from the mitochondrial COX1 locus of Saccharomyces cerevisiae

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

Cytochrome c oxidase deficiency

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

Large-scale analysis of the human and mouse transcriptomes

24 March 2017

1 reference

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Multiclass cancer diagnosis using tumor gene expression signatures

7 April 2017

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Heterogeneous nuclear ribonucleoprotein K protein associates with multiple mitochondrial transcripts within the organelle.

7 April 2017

1 reference

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Distinct RNP complexes of shuttling hnRNP proteins with pre-mRNA and mRNA: candidate intermediates in formation and export of mRNA.

27 September 2017

1 reference

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Delineating developmental and metabolic pathways in vivo by expression profiling using the RIKEN set of 18,816 full-length enriched mouse cDNA arrays

27 September 2017

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A reversible component of mitochondrial respiratory dysfunction in apoptosis can be rescued by exogenous cytochrome c.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

Human cytochrome oxidase deficiency

27 September 2017

1 reference

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Proteomics to study genes and genomes

27 September 2017

1 reference

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MITOP: database for mitochondria-related proteins, genes and diseases.

27 September 2017

1 reference

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Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=141043

Hereditary disorders in the French Canadian population of Quebec. I. In search of founders

27 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12529507

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.242716699

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OpenCitations bibliographic resource ID

6 July 2017

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1661769

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

6 July 2017

1 reference