Published in Gene on July 10, 2002
Comparative temporal and dose-dependent morphological and transcriptional uterine effects elicited by tamoxifen and ethynylestradiol in immature, ovariectomized mice. BMC Genomics (2007) 0.95
Effect of tenofovir on nucleotidases and cytokines in HIV-1 target cells. PLoS One (2013) 0.89
Tim50 in Trypanosoma brucei possesses a dual specificity phosphatase activity and is critical for mitochondrial protein import. J Biol Chem (2012) 0.83
Telomere dysfunction induces metabolic and mitochondrial compromise. Nature (2011) 6.36
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Telomerase reactivation reverses tissue degeneration in aged telomerase-deficient mice. Nature (2010) 4.36
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med (2004) 3.00
Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell (2004) 2.33
Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat (2008) 2.30
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
Antitelomerase therapy provokes ALT and mitochondrial adaptive mechanisms in cancer. Cell (2012) 1.91
Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet (2005) 1.78
Lenalidomide targets clonogenic side population in multiple myeloma: pathophysiologic and clinical implications. Blood (2011) 1.76
Telomerase reactivation following telomere dysfunction yields murine prostate tumors with bone metastases. Cell (2012) 1.75
Quantitation of cellular deoxynucleoside triphosphates. Nucleic Acids Res (2009) 1.70
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet (2002) 1.69
MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome. Cell Metab (2011) 1.68
The deoxynucleotide triphosphohydrolase SAMHD1 is a major regulator of DNA precursor pools in mammalian cells. Proc Natl Acad Sci U S A (2013) 1.61
Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage. Proc Natl Acad Sci U S A (2008) 1.60
Genomic microarrays in the spotlight. Trends Genet (2004) 1.55
p53R2-dependent ribonucleotide reduction provides deoxyribonucleotides in quiescent human fibroblasts in the absence of induced DNA damage. J Biol Chem (2007) 1.52
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat (2008) 1.45
Regulation by degradation, a cellular defense against deoxyribonucleotide pool imbalances. Mutat Res (2010) 1.39
Origins of mitochondrial thymidine triphosphate: dynamic relations to cytosolic pools. Proc Natl Acad Sci U S A (2003) 1.39
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. J Biol Chem (2006) 1.35
Mitochondrial deoxynucleotide pool sizes in mouse liver and evidence for a transport mechanism for thymidine monophosphate. Proc Natl Acad Sci U S A (2006) 1.34
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res (2008) 1.34
Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). J Biol Chem (2005) 1.31
CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas. Genes Chromosomes Cancer (2006) 1.29
Crystal structure of a human mitochondrial deoxyribonucleotidase. Nat Struct Biol (2002) 1.22
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
Segmental duplications and evolutionary plasticity at tumor chromosome break-prone regions. Genome Res (2008) 1.16
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication. Hum Mol Genet (2013) 1.16
Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity. Int J Oncol (2006) 1.09
A segmental maximum a posteriori approach to genome-wide copy number profiling. Bioinformatics (2008) 1.09
Mitochondrial deoxyribonucleotides, pool sizes, synthesis, and regulation. J Biol Chem (2004) 1.08
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med (2004) 1.07
Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy. Nat Cell Biol (2013) 1.07
The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster. PLoS Genet (2011) 1.06
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
The mechanism of cystic fibrosis transmembrane conductance regulator transcriptional repression during the unfolded protein response. J Biol Chem (2008) 1.06
Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection. J Mol Med (Berl) (2003) 1.05
Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer. Genes Chromosomes Cancer (2006) 1.05
Mitochondrial thymidine kinase and the enzymatic network regulating thymidine triphosphate pools in cultured human cells. J Biol Chem (2007) 1.03
MTERF1 binds mtDNA to prevent transcriptional interference at the light-strand promoter but is dispensable for rRNA gene transcription regulation. Cell Metab (2013) 1.03
LRPPRC is a mitochondrial matrix protein that is conserved in metazoans. Biochem Biophys Res Commun (2010) 1.03
Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors. Genes Chromosomes Cancer (2011) 1.03
Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array. Neuro Oncol (2009) 1.02
Cytosolic and mitochondrial deoxyribonucleotidases: activity with substrate analogs, inhibitors and implications for therapy. Biochem Pharmacol (2003) 1.02
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet A (2007) 1.02
Crystal structure of human cytosolic 5'-nucleotidase II: insights into allosteric regulation and substrate recognition. J Biol Chem (2007) 1.02
MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals. PLoS Genet (2013) 1.01
Loss of LRPPRC causes ATP synthase deficiency. Hum Mol Genet (2014) 1.01
Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma. Int J Cancer (2010) 0.99
Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. Genomics (2006) 0.98
The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3. Eur J Hum Genet (2002) 0.96
Structure-Guided Design of IACS-9571, a Selective High-Affinity Dual TRIM24-BRPF1 Bromodomain Inhibitor. J Med Chem (2015) 0.96
Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation. Am J Med Genet A (2010) 0.95
Down regulation of 3p genes, LTF, SLC38A3 and DRR1, upon growth of human chromosome 3-mouse fibrosarcoma hybrids in severe combined immunodeficiency mice. Int J Cancer (2006) 0.93
Integrative epigenomic and genomic analysis of malignant pheochromocytoma. Exp Mol Med (2010) 0.93
Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus. BMC Genomics (2007) 0.93
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat (2005) 0.92
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression. Eur J Hum Genet (2010) 0.92
High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas. Genes Chromosomes Cancer (2005) 0.91
Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci. Cancer Res (2005) 0.91
Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis. Endocr Relat Cancer (2010) 0.89
Chromosome 22 tiling-path array-CGH analysis identifies germ-line- and tumor-specific aberrations in patients with glioblastoma multiforme. Genes Chromosomes Cancer (2005) 0.89
Metabolic interrelations within guanine deoxynucleotide pools for mitochondrial and nuclear DNA maintenance. J Biol Chem (2008) 0.89
Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosomes Cancer (2009) 0.88
High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas. Hum Genet (2005) 0.88
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. Am J Med Genet A (2008) 0.87
Comparative human/murine sequence analysis of the common eliminated region 1 from human 3p21.3. Mamm Genome (2002) 0.87
Distal 22q11.2 microduplication encompassing the BCR gene. Am J Med Genet A (2008) 0.86
Bromovinyl-deoxyuridine: A selective substrate for mitochondrial thymidine kinase in cell extracts. Biochem Biophys Res Commun (2006) 0.86
The leucine-rich pentatricopeptide repeat-containing protein (LRPPRC) does not activate transcription in mammalian mitochondria. J Biol Chem (2013) 0.85
Structural basis for substrate specificity of the human mitochondrial deoxyribonucleotidase. Structure (2005) 0.85
Crystal structures of human and murine deoxyribonucleotidases: insights into recognition of substrates and nucleotide analogues. Biochemistry (2007) 0.85
Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts. FEBS J (2009) 0.84
Coincidence of synteny breakpoints with malignancy-related deletions on human chromosome 3. Proc Natl Acad Sci U S A (2003) 0.83
Copy-number polymorphisms: mining the tip of an iceberg. Trends Genet (2005) 0.83
Synthesis of mitochondrial DNA precursors during myogenesis, an analysis in purified C2C12 myotubes. J Biol Chem (2013) 0.82
The pyrimidine nucleotide carrier PNC1 and mitochondrial trafficking of thymidine phosphates in cultured human cells. Exp Cell Res (2012) 0.82
Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male. Am J Med Genet A (2003) 0.81
Array-CGH and multipoint FISH to decode complex chromosomal rearrangements. BMC Genomics (2006) 0.81
Consistent downregulation of human lactoferrin gene, in the common eliminated region 1 on 3p21.3, following tumor growth in severe combined immunodeficient (SCID) mice. Cancer Lett (2003) 0.81
CGH analysis of familial non-BRCA1/BRCA2 breast tumors and mutation screening of a candidate locus on chromosome 17q11.2-12. Int J Mol Med (2005) 0.81
A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients. Am J Med Genet A (2007) 0.80
High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH. Int J Oncol (2003) 0.80
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. Orphanet J Rare Dis (2011) 0.79
Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients. Am J Med Genet A (2011) 0.79
Human mitochondrial 5'-deoxyribonucleotidase. Overproduction in cultured cells and functional aspects. J Biol Chem (2002) 0.79
Localization of a putative low-penetrance ependymoma susceptibility locus to 22q11 using a chromosome 22 tiling-path genomic microarray. Genes Chromosomes Cancer (2005) 0.78
Functional characterization of drim2, the Drosophila melanogaster homolog of the yeast mitochondrial deoxynucleotide transporter. J Biol Chem (2014) 0.78
Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases. J Autoimmun (2008) 0.78
Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH. Int J Cancer (2006) 0.78
Crystal structures of the mitochondrial deoxyribonucleotidase in complex with two specific inhibitors. Mol Pharmacol (2004) 0.78
Strong conservation of the human NF2 locus based on sequence comparison in five species. Mamm Genome (2003) 0.77
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome. Am J Med Genet A (2013) 0.77
Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review. Twin Res Hum Genet (2008) 0.77
Jumping translocation of 17q11 approximately qter and 3q25 approximately q28 duplication in a variant Philadelphia t(9;14;22)(q34;q32;q11) in a childhood chronic myelogenous leukemia. Cancer Genet Cytogenet (2006) 0.77