Published in Nat Genet on May 07, 2007
SAMHD1 restricts the replication of human immunodeficiency virus type 1 by depleting the intracellular pool of deoxynucleoside triphosphates. Nat Immunol (2012) 5.71
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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet (2013) 1.30
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet (2008) 1.26
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Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells. Proc Natl Acad Sci U S A (2012) 1.21
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MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. Neuromuscul Disord (2012) 1.18
Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis. Intensive Care Med (2010) 1.17
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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain (2012) 1.16
p53-inducible ribonucleotide reductase (p53R2/RRM2B) is a DNA hypomethylation-independent decitabine gene target that correlates with clinical response in myelodysplastic syndrome/acute myelogenous leukemia. Cancer Res (2008) 1.14
Acute exercise induces tumour suppressor protein p53 translocation to the mitochondria and promotes a p53-Tfam-mitochondrial DNA complex in skeletal muscle. J Physiol (2013) 1.12
The regulation of cellular metabolism by tumor suppressor p53. Cell Biosci (2013) 1.12
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab (2015) 1.11
Roles of microRNA on cancer cell metabolism. J Transl Med (2012) 1.11
Mitochondrial DNA replication proceeds via a 'bootlace' mechanism involving the incorporation of processed transcripts. Nucleic Acids Res (2013) 1.10
Metabolism and brain cancer. Clinics (Sao Paulo) (2011) 1.10
Ribonucleotide reductase and mitochondrial DNA synthesis. Nat Genet (2007) 1.08
Cell cycle- and ribonucleotide reductase-driven changes in mtDNA copy number influence mtDNA Inheritance without compromising mitochondrial gene expression. Cell Cycle (2007) 1.07
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Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study. Croat Med J (2013) 1.07
The critical role of catalase in prooxidant and antioxidant function of p53. Cell Death Differ (2012) 1.07
Deoxyribonucleotide metabolism in cycling and resting human fibroblasts with a missense mutation in p53R2, a subunit of ribonucleotide reductase. J Biol Chem (2011) 1.06
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet (2008) 1.06
A review comparing deoxyribonucleoside triphosphate (dNTP) concentrations in the mitochondrial and cytoplasmic compartments of normal and transformed cells. Nucleosides Nucleotides Nucleic Acids (2011) 1.05
Tumor suppressor p53 and its mutants in cancer metabolism. Cancer Lett (2013) 1.04
Mouse models of mitochondrial DNA defects and their relevance for human disease. EMBO Rep (2009) 1.03
Vaccinia virus-encoded ribonucleotide reductase subunits are differentially required for replication and pathogenesis. PLoS Pathog (2010) 1.03
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol Genet Metab (2012) 1.02
The awakening of an advanced malignant cancer: an insult to the mitochondrial genome. Biochim Biophys Acta (2011) 1.02
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. Neurology (2011) 1.01
Possible existence of lysosome-like organella within mitochondria and its role in mitochondrial quality control. PLoS One (2011) 1.01
Ribonucleotide discrimination and reverse transcription by the human mitochondrial DNA polymerase. J Biol Chem (2011) 1.00
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). PLoS Genet (2011) 0.98
p53 and mitochondrial function in neurons. Biochim Biophys Acta (2014) 0.97
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol (2011) 0.97
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain (2012) 0.96
Deoxyribonucleotide metabolism, mutagenesis and cancer. Nat Rev Cancer (2015) 0.96
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. J Pediatr Gastroenterol Nutr (2013) 0.94
Human mitochondrial DNA polymerase γ exhibits potential for bypass and mutagenesis at UV-induced cyclobutane thymine dimers. J Biol Chem (2011) 0.94
Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol (2013) 0.94
Spectrum of combined respiratory chain defects. J Inherit Metab Dis (2015) 0.93
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. Eur J Hum Genet (2010) 0.93
Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy. Cardiovasc Toxicol (2008) 0.93
Animal models of mitochondrial DNA transactions in disease and ageing. Exp Gerontol (2010) 0.93
p53: exercise capacity and metabolism. Curr Opin Oncol (2012) 0.92
Mitochondrial deficiency in Cockayne syndrome. Mech Ageing Dev (2013) 0.92
Bcl2 induces DNA replication stress by inhibiting ribonucleotide reductase. Cancer Res (2013) 0.92
The genetics and pathology of mitochondrial disease. J Pathol (2016) 0.92
Renal manifestations of primary mitochondrial disorders. Biomed Rep (2017) 0.92
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. Saudi J Gastroenterol (2012) 0.91
TIGAR, TIGAR, burning bright. Cancer Metab (2014) 0.91
The effect of mitochondrial dysfunction on cytosolic nucleotide metabolism. J Nucleic Acids (2010) 0.91
Tumor suppressor FOXO3 regulates ribonucleotide reductase subunit RRM2B and impacts on survival of cancer patients. Oncotarget (2014) 0.90
p53, aerobic metabolism, and cancer. Antioxid Redox Signal (2011) 0.90
Prevalent coordination of mitochondrial DNA transcription and initiation of replication with the cell cycle. Nucleic Acids Res (2013) 0.90
Tumor suppressor p53 and its gain-of-function mutants in cancer. Acta Biochim Biophys Sin (Shanghai) (2013) 0.89
Novel mutator mutants of E. coli nrdAB ribonucleotide reductase: insight into allosteric regulation and control of mutation rates. DNA Repair (Amst) (2012) 0.88
Mitochondrial DNA content varies with pathological characteristics of breast cancer. J Oncol (2011) 0.88
RRM2B suppresses activation of the oxidative stress pathway and is up-regulated by p53 during senescence. Sci Rep (2012) 0.88
Oxidative stress during mitochondrial biogenesis compromises mtDNA integrity in growing hearts and induces a global DNA repair response. Nucleic Acids Res (2012) 0.88
Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. Hum Mol Genet (2014) 0.88
Manganese superoxide dismutase is a mitochondrial fidelity protein that protects Polγ against UV-induced inactivation. Oncogene (2011) 0.88
The interface of transcription and DNA replication in the mitochondria. Biochim Biophys Acta (2011) 0.88
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
International network of cancer genome projects. Nature (2010) 20.35
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet (2008) 9.39
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet (2008) 8.63
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet (2009) 8.11
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet (2003) 7.98
Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet (2003) 7.04
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet (2002) 6.46
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors. Immunity (2010) 5.43
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet (2005) 5.35
A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians. Nat Genet (2009) 5.29
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. Nat Genet (2012) 4.84
SMYD3 encodes a histone methyltransferase involved in the proliferation of cancer cells. Nat Cell Biol (2004) 4.72
An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet (2003) 4.61
Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet (2010) 4.36
A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet (2007) 4.31
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
HJURP is a cell-cycle-dependent maintenance and deposition factor of CENP-A at centromeres. Cell (2009) 3.94
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Genomewide association between GLCCI1 and response to glucocorticoid therapy in asthma. N Engl J Med (2011) 3.80
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Recognition of hemi-methylated DNA by the SRA protein UHRF1 by a base-flipping mechanism. Nature (2008) 3.62
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Diabetes (2007) 3.24
Significant effect of polymorphisms in CYP2D6 and ABCC2 on clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients. J Clin Oncol (2010) 3.21
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Nat Genet (2012) 3.19
Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma. Nat Genet (2011) 3.19
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med (2007) 3.18
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet (2006) 3.17
A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet (2005) 3.15
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies. Am J Hum Genet (2008) 3.12
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Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. Gastroenterology (2009) 3.04
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. Brain (2011) 3.04
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An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet (2005) 3.00
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Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. Nat Genet (2010) 2.92
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. Nat Genet (2010) 2.81
Glypican-3, overexpressed specifically in human hepatocellular carcinoma, is a novel tumor marker. Biochem Biophys Res Commun (2003) 2.78
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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
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A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet (2006) 2.29
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. Nat Genet (2009) 2.26
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Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09
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Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet (2012) 2.05
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Variations in the FTO gene are associated with severe obesity in the Japanese. J Hum Genet (2008) 2.03
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