Mapping gene associations in human mitochondria using clinical disease phenotypes (Q21145361)

18 August 2022

Henry Horng-Shing Lu

2

Henry Horng-Shing

Lu

1 reference

18 August 2022

Jutta K Neuenburg

3

Jutta K

Neuenburg

1 reference

18 August 2022

Edward A Allen

4

Edward A

Allen

1 reference

18 August 2022

Guan-Cheng Li

5

Guan-Cheng

Li

1 reference

18 August 2022

Thomas Klopstock

6

Thomas

Klopstock

1 reference

18 August 2022

Tina M Cowan

7

Tina M

Cowan

1 reference

18 August 2022

Gregory M Enns

8

Gregory M

Enns

1 reference

18 August 2022

Ronald W Davis

9

Ronald W

Davis

1 reference

PLOS Computational Biology

18 August 2022

language of work or name

English

0 references

publication date

April 2009

0 references

published in

0 references

volume

5

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issue

4

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page(s)

e1000374

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copyright license

Creative Commons Attribution 4.0 International

start time

24 April 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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19 March 2017

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19 March 2017

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19 March 2017

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19 March 2017

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Integrative analysis of the mitochondrial proteome in yeast

19 March 2017

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

19 March 2017

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Nuclear genes involved in mitochondria-to-nucleus communication in breast cancer cells

19 March 2017

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Functional profiling of the Saccharomyces cerevisiae genome

19 March 2017

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Sequence and organization of the human mitochondrial genome

19 March 2017

1 reference

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The bipolar disorder phenome database: a resource for genetic studies

19 March 2017

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19 March 2017

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A role for mitochondrial enzymes in inherited neoplasia and beyond

19 March 2017

1 reference

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A collaborative knowledge base for cognitive phenomics

19 March 2017

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A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine

19 March 2017

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A human phenome-interactome network of protein complexes implicated in genetic disorders

7 April 2017

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A network-based analysis of systemic inflammation in humans

7 April 2017

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Mitochondrial dysfunction and type 2 diabetes

7 April 2017

1 reference

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Molecular Pathways of Neurodegeneration in Parkinson's Disease

7 April 2017

1 reference

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Systematic screen for human disease genes in yeast

7 April 2017

1 reference

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Cardiac mitochondria in heart failure: decrease in respirasomes and oxidative phosphorylation

7 April 2017

1 reference

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Networking metabolites and diseases

12 September 2017

1 reference

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Network properties of genes harboring inherited disease mutations

12 September 2017

1 reference

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The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge

12 September 2017

1 reference

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Gene-expression variation within and among human populations

12 September 2017

1 reference

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Building the power house: recent advances in mitochondrial studies through proteomics and systems biology

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668170

Physiological diversity of mitochondrial oxidative phosphorylation

12 September 2017

1 reference

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Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668170

Systematic identification of human mitochondrial disease genes through integrative genomics

12 September 2017

1 reference

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Creation and implications of a phenome-genome network

12 September 2017

1 reference

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Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations

12 September 2017

1 reference

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From syndrome families to functional genomics

12 September 2017

1 reference

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The contribution of mitochondria to common disorders

12 September 2017

1 reference

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The challenges of recording phenotype in a generalizable and computable form

12 September 2017

1 reference

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Epidemiology and treatment of mitochondrial disorders

12 September 2017

1 reference

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The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities

12 September 2017

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

12 September 2017

1 reference

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The development of mitochondrial medicine

12 September 2017

1 reference

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Nuclear power and mitochondrial disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668170

Metabolic rate and organ size during growth from infancy to maturity and during late gastation and early infancy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668170

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PCBI.1000374

"Phenome" project set to pin down subgroups of autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PCBI.1000374

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PCBI.1000374

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PCBI.1000374

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PCBI.1000374

A text-mining analysis of the human phenome

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19390613

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PCBI.1000374

0 references

DBLP publication ID

journals/ploscb/ScharfeLNALKCED09

1 reference

DBLP Dataset 2021-01-02

28 January 2021

PMC publication ID

2668170

0 references