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MED12 wt Allele

Known as: CAGH45, TRAP230, Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog (S. cerevisiae) Gene 
Human MED12 wild-type allele is located in the vicinity of Xq13 and is approximately 24 kb in length. This allele, which encodes mediator of RNA… Expand
National Institutes of Health

Papers overview

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2015
2015
Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation… Expand
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2015
2015
OBJECTIVE OPA1 mutations are responsible for more than half of autosomal dominant optic atrophy (ADOA), a blinding disease… Expand
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Highly Cited
2013
Highly Cited
2013
Mitochondrial dynamics control the organelle's morphology, with fusion leading to the formation of elongated tubules and fission… Expand
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Highly Cited
2012
Highly Cited
2012
MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been… Expand
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Highly Cited
2009
Highly Cited
2009
We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic… Expand
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Highly Cited
2009
Highly Cited
2009
PURPOSE To determine whether intraocular pressure (IOP) elevation alters OPA1 expression and triggers OPA1 release, as well as… Expand
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Highly Cited
2008
Highly Cited
2008
Mitochondrial dysfunction is a prominent feature of Alzheimer disease but the underlying mechanism is unclear. In this study, we… Expand
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Highly Cited
2008
Highly Cited
2008
OPA1, a nuclear encoded mitochondrial protein causing autosomal dominant optic atrophy, is a key player in mitochondrial fusion… Expand
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Highly Cited
2006
Highly Cited
2006
Many muscular and neurological disorders are associated with mitochondrial dysfunction and are often accompanied by changes in… Expand
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2004
2004
PURPOSE Autosomal dominant optic atrophy is a hereditary disorder characterized by progressive loss of vision and caused by… Expand
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