Mitochondrial DNA Polymerase γ Mutations and Their Implications in mtDNA Alterations in Colorectal Cancer

Heteroplasmic substitutions in the entire mitochondrial genomes of human colon cells detected by ultra-deep 454 sequencing

(2015) Katarzyna Skonieczna et al.   Forensic Science International-Genetics

Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype–phenotype correlations for the complete spectrum of POLG syndromes

(2014) Gregory A. Farnum et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

POLGmutations in Australian patients with mitochondrial disease

(2012) P. Woodbridge et al.   INTERNAL MEDICINE JOURNAL

CAG Repeat Variants in the POLG1 Gene Encoding mtDNA Polymerase-Gamma and Risk of Breast Cancer in African-American Women

(2012) Sami Azrak et al.   PLoS One

Spectrum of somatic mitochondrial mutations in five cancers

(2012) T. C. Larman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Defects in mitochondrial DNA replication and human disease

(2011) William C. Copeland   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Generation, function and diagnostic value of mitochondrial DNA copy number alterations in human cancers

(2011) Man Yu   LIFE SCIENCES

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ

(2011) Liliya Euro et al.   NUCLEIC ACIDS RESEARCH

Tumorigenic transformation of human breast epithelial cells induced by mitochondrial DNA depletion

(2010) Mariola Kulawiec et al.   CANCER BIOLOGY & THERAPY

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

(2010) Jeffrey D. Stumpf et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Decreased copy number of mitochondrial DNA in Ewing's sarcoma

(2010) Man Yu et al.   CLINICA CHIMICA ACTA

Microsatellite Instability in Colorectal Cancer

(2010) C. Richard Boland et al.   GASTROENTEROLOGY

Polymerase γ Gene POLG determines the risk of sodium valproate-induced liver toxicity

(2010) Joanna D. Stewart et al.   HEPATOLOGY

Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock

(2009) Pedro Soares et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Decreased mitochondrial DNA content in blood samples of patients with stage I breast cancer

(2009) Peng Xia et al.   BMC CANCER

Mitochondrial D-loop mutation is a common event in colorectal cancers with p53 mutations

(2009) Shih-Ching Chang et al.   INTERNATIONAL JOURNAL OF COLORECTAL DISEASE

Mutations in mitochondrial DNA polymerase-γ promote breast tumorigenesis

(2009) Keshav K Singh et al.   JOURNAL OF HUMAN GENETICS

No association between commonPOLG1variants and sporadic idiopathic Parkinson's disease

(2009) Gavin Hudson et al.   MOVEMENT DISORDERS

Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer

(2008) M. Blomberg Jensen et al.   ANNALS OF ONCOLOGY

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

(2008) Jan-Willem Taanman et al.   HUMAN MUTATION

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION