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C10orf2 gene

Known as: TWINL, p72, T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION 
National Institutes of Health

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Related topics

1 relation
C10ORF2 protein, human

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication
Replication of the mammalian mitochondrial DNA (mtDNA) is dependent on the minimal replisome, consisting of the heterotrimeric… 
Highly Cited
2007
Highly Cited
2007
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
Mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically and genetically heterogeneous group of autosomal recessive… 
Review
2006
Review
2006
Twinkle, the Mitochondrial Replicative DNA Helicase, Is Widespread in the Eukaryotic Radiation and May Also Be the Mitochondrial DNA Primase in Most Eukaryotes
Recently, the human protein responsible for replicative mtDNA helicase activity was identified and designated Twinkle. Twinkle… 
Highly Cited
2004
Highly Cited
2004
Reconstitution of a minimal mtDNA replisome in vitro
We here reconstitute a minimal mammalian mitochondrial DNA (mtDNA) replisome in vitro. The mtDNA polymerase (POLγ) cannot use… 
Highly Cited
2004
Highly Cited
2004
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
Mechanisms of mitochondrial DNA (mtDNA) maintenance have recently gained wide interest owing to their role in inherited diseases… 
Highly Cited
2003
Highly Cited
2003
TWINKLE Has 5′ → 3′ DNA Helicase Activity and Is Specifically Stimulated by Mitochondrial Single-stranded DNA-binding Protein*
Mutations in TWINKLE cause autosomal dominant progressive external ophthalmoplegia, a human disorder associated with multiple… 
Highly Cited
2003
Highly Cited
2003
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated… 
Highly Cited
2003
Highly Cited
2003
Differential splicing of KLK5 and KLK7 in epithelial ovarian cancer produces novel variants with potential as cancer biomarkers.
PURPOSE The wild-type or variant mRNAs of several kallikrein (KLK) genes, such as KLK4, are highly expressed in ovarian… 
Highly Cited
1999
Highly Cited
1999
Evidence-Based Practice: Critique and Alternative View
Recent calls to promote evidence-based practice in nursing raise serious concerns. It has been suggested that evidence should be… 
Highly Cited
1992
Highly Cited
1992
Failla Memorial Lecture. Is radiation all bad? The search for adaptation.
I want to thank you all tonight for the honor you have bestowed on me in allowing me to address you. I am indeed proud of being… 
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