(Q44863885)

English

A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher

scientific article published on 25 March 2012

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Europe PubMed Central

PubMed publication ID

6 December 2017

A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

dilated cardiomyopathy

1 reference

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Stephen N. White

object named as

Stephen N White

4

0 references

Kerstin Lindblad-Toh

7

object named as

Kerstin Lindblad-Toh

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

6

object named as

Evan Mauceli

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

Sunshine Lahmers

2

object named as

Sunshine Lahmers

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

author name string

Kathryn M Meurs

1

1 reference

Europe PubMed Central

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6 December 2017

Bruce W Keene

3

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

Mark A Oyama

5

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Europe PubMed Central

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6 December 2017

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publication date

25 March 2012

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Europe PubMed Central

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6 December 2017

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Europe PubMed Central

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6 December 2017

131

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Europe PubMed Central

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6 December 2017

8

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Europe PubMed Central

PubMed publication ID

6 December 2017

1319-1325

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Evidence for existence of tissue-specific regulation of the mammalian pyruvate dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Clinical and genetic issues in familial dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Genome-wide quantitative trait locus association scan of general cognitive ability using pooled DNA and 500K single nucleotide polymorphism microarrays.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Proposed guidelines for the diagnosis of canine idiopathic dilated cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Cardiomyopathy in respiratory chain disorders

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Dynamic organization of mitochondria in human heart and in myocardial disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Efficient mapping of mendelian traits in dogs through genome-wide association

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Paradoxical downregulation of the glucose oxidation pathway despite enhanced flux in severe heart failure

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Myocardial fatty acid metabolism in health and disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Characterization of canine mitochondrial protein expression in natural and induced forms of idiopathic dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

A prospective genetic evaluation of familial dilated cardiomyopathy in the Doberman pinscher.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Naturally occurring cardiomyopathy in the Doberman pinscher: a possible large animal model of human cardiomyopathy?

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Characterization of the canine desmin (DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

The canine sarcoglycan delta gene: BAC clone contig assembly, chromosome assignment and interrogation as a candidate gene for dilated cardiomyopathy in Dobermann dogs.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Evaluation of the phospholamban gene in purebred large-breed dogs with dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Myocardial substrate metabolism in the normal and failing heart

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1158-2

21 January 2018

Evaluation of the cardiac actin gene in Doberman Pinschers with dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Respiratory chain defect of myocardial mitochondria in idiopathic dilated cardiomyopathy of Doberman pinscher dogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nine polymorphisms within the head and hinge region of the feline cardiac beta-myosin heavy chain gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primer3 on the WWW for general users and for biologist programmers

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of the MYBPC3-A31P mutation in a large European feline population and association with hypertrophic cardiomyopathy in the Maine Coon breed

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pyruvate dehydrogenase kinase-4 structures reveal a metastable open conformation fostering robust core-free basal activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acetyl-CoA carboxylase regulation of fatty acid oxidation in the heart

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular evaluation of five cardiac genes in Doberman Pinschers with dilated cardiomyopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22447147

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-012-1158-2

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

release_63cxhzhsmvfl7dodpcbqg727q4

1 reference

https://api.fatcat.wiki/v0/release/63cxhzhsmvfl7dodpcbqg727q4

24 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 December 2017

ResearchGate publication ID

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