Published in Hum Mutat on June 01, 2006
Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance. Trends Biochem Sci (2008) 2.24
The RecQ DNA helicases in DNA repair. Annu Rev Genet (2010) 1.85
Human premature aging, DNA repair and RecQ helicases. Nucleic Acids Res (2007) 1.84
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DNA repair deficiency in neurodegeneration. Prog Neurobiol (2011) 1.55
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Vitamin C restores healthy aging in a mouse model for Werner syndrome. FASEB J (2009) 1.13
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Disease-causing missense mutations in human DNA helicase disorders. Mutat Res (2012) 0.95
Werner's syndrome: a quite rare disease for differential diagnosis of scleroderma. Rheumatol Int (2009) 0.90
Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells. J Biol Chem (2011) 0.90
From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing. Cell Mol Life Sci (2007) 0.89
Hyperinsulinemia and insulin resistance in Wrn null mice fed a diabetogenic diet. Mech Ageing Dev (2008) 0.88
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. Mol Syndromol (2010) 0.88
Functional deficit associated with a missense Werner syndrome mutation. DNA Repair (Amst) (2013) 0.87
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. Hum Mutat (2015) 0.86
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome. Gerontology (2014) 0.86
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Werner syndrome gene variants in human sarcomas. Mol Carcinog (2010) 0.84
Involvement of Werner syndrome protein in MUTYH-mediated repair of oxidative DNA damage. Nucleic Acids Res (2012) 0.84
Divergent cellular phenotypes of human and mouse cells lacking the Werner syndrome RecQ helicase. DNA Repair (Amst) (2009) 0.83
Genetic instability syndromes with progeroid features. Z Gerontol Geriatr (2007) 0.83
DNA helicases associated with genetic instability, cancer, and aging. Adv Exp Med Biol (2013) 0.83
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Replication proteins and human disease. Cold Spring Harb Perspect Biol (2014) 0.82
Computational image analysis of nuclear morphology associated with various nuclear-specific aging disorders. Nucleus (2011) 0.82
Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer. Sci Rep (2015) 0.82
Association of epigenetic inactivation of the WRN gene with anticancer drug sensitivity in cervical cancer cells. Oncol Rep (2012) 0.82
Telomere dysfunction in human bone marrow failure syndromes. Nucleus (2011) 0.82
Delineation of WRN helicase function with EXO1 in the replicational stress response. DNA Repair (Amst) (2010) 0.82
Collagen expression in fibroblasts with a novel LMNA mutation. Biochem Biophys Res Commun (2006) 0.82
What is aging? Transfus Med Hemother (2012) 0.81
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome. Orphanet J Rare Dis (2013) 0.81
Expression profiling of mouse embryonic fibroblasts with a deletion in the helicase domain of the Werner Syndrome gene homologue treated with hydrogen peroxide. BMC Genomics (2010) 0.80
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Oxidative stress and antioxidant response in fibroblasts from Werner and atypical Werner syndromes. Aging (Albany NY) (2014) 0.78
A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies. Epigenetics (2015) 0.77
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Metabolic and Phenotypic Differences between Mice Producing a Werner Syndrome Helicase Mutant Protein and Wrn Null Mice. PLoS One (2015) 0.76
Molecular adaptation of telomere associated genes in mammals. BMC Evol Biol (2013) 0.76
Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases. Hum Mutat (2016) 0.76
Stem cell aging in adult progeria. Cell Regen (Lond) (2015) 0.75
Werner syndrome with refractory cystoid macular edema and immunohistochemical analysis of WRN proteins in human retinas. BMC Ophthalmol (2014) 0.75
Progeria: a rare genetic premature ageing disorder. Indian J Med Res (2014) 0.75
Looking for disease being a model of human aging. Acta Myol (2007) 0.75
Werner syndrome through the lens of tissue and tumour genomics. Sci Rep (2016) 0.75
Manipulation of DNA Repair Proficiency in Mouse Models of Colorectal Cancer. Biomed Res Int (2016) 0.75
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. Sci Rep (2017) 0.75
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation. Indian J Gastroenterol (2017) 0.75
Dysfunction of the MDM2/p53 axis is linked to premature aging. J Clin Invest (2017) 0.75
Positional cloning of the Werner's syndrome gene. Science (1996) 10.98
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RecQ helicases: caretakers of the genome. Nat Rev Cancer (2003) 5.83
Defective telomere lagging strand synthesis in cells lacking WRN helicase activity. Science (2004) 4.87
LMNA mutations in atypical Werner's syndrome. Lancet (2003) 4.81
The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. Nucleic Acids Res (2001) 4.47
Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs. Proc Natl Acad Sci U S A (1997) 4.40
The Werner syndrome protein is a DNA helicase. Nat Genet (1997) 4.03
Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc Natl Acad Sci U S A (1989) 3.55
The premature ageing syndrome protein, WRN, is a 3'-->5' exonuclease. Nat Genet (1998) 3.12
Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomarkers Prev (1996) 2.76
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The proofreading domain of Escherichia coli DNA polymerase I and other DNA and/or RNA exonuclease domains. Nucleic Acids Res (1997) 2.55
Ku complex interacts with and stimulates the Werner protein. Genes Dev (2000) 2.21
Werner syndrome protein interacts with human flap endonuclease 1 and stimulates its cleavage activity. EMBO J (2001) 2.21
Werner syndrome protein is regulated and phosphorylated by DNA-dependent protein kinase. J Biol Chem (2001) 2.02
The Saccharomyces cerevisiae WRN homolog Sgs1p participates in telomere maintenance in cells lacking telomerase. EMBO J (2001) 1.99
Impaired S-phase transit of Werner syndrome cells expressed in lymphoblastoid cell lines. Exp Cell Res (1992) 1.98
Hierarchical deterioration of body systems in Werner's syndrome: implications for normal ageing. Mech Ageing Dev (1997) 1.93
An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants. Hum Genet (1997) 1.88
A putative nucleic acid-binding domain in Bloom's and Werner's syndrome helicases. Trends Biochem Sci (1997) 1.76
Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase. Hum Genet (1999) 1.71
Werner syndrome protein contains three structure-specific DNA binding domains. J Biol Chem (2003) 1.62
Identification and biochemical characterization of a Werner's syndrome protein complex with Ku70/80 and poly(ADP-ribose) polymerase-1. J Biol Chem (2004) 1.61
Accumulation of Werner protein at DNA double-strand breaks in human cells. J Cell Sci (2005) 1.59
Impaired nuclear localization of defective DNA helicases in Werner's syndrome. Nat Genet (1997) 1.57
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. Structure (1999) 1.57
Werner helicase relocates into nuclear foci in response to DNA damaging agents and co-localizes with RPA and Rad51. Genes Cells (2001) 1.54
Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. Am J Hum Genet (1997) 1.52
Werner syndrome cells are sensitive to DNA cross-linking drugs. FASEB J (2001) 1.48
Characterization of the human and mouse WRN 3'-->5' exonuclease. Nucleic Acids Res (2000) 1.46
Accelerated loss of telomeric repeats may not explain accelerated replicative decline of Werner syndrome cells. Hum Genet (1996) 1.43
p53-mediated apoptosis is attenuated in Werner syndrome cells. Genes Dev (1999) 1.39
Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population. Hum Genet (1997) 1.35
Werner syndrome diploid fibroblasts are sensitive to 4-nitroquinoline-N-oxide and 8-methoxypsoralen: implications for the disease phenotype. FASEB J (2002) 1.35
Abnormal telomere dynamics of B-lymphoblastoid cell strains from Werner's syndrome patients transformed by Epstein-Barr virus. Oncogene (1997) 1.34
Requirements for the nucleolytic processing of DNA ends by the Werner syndrome protein-Ku70/80 complex. J Biol Chem (2001) 1.30
The Werner syndrome protein is involved in RNA polymerase II transcription. Mol Biol Cell (1999) 1.29
Structure and function of RecQ DNA helicases. Crit Rev Biochem Mol Biol (2004) 1.29
The Werner syndrome helicase/exonuclease (WRN) disrupts and degrades D-loops in vitro. Biochemistry (2002) 1.25
WRN, the protein deficient in Werner syndrome, plays a critical structural role in optimizing DNA repair. Aging Cell (2003) 1.23
Werner protein recruits DNA polymerase delta to the nucleolus. Proc Natl Acad Sci U S A (2000) 1.23
Analysis of helicase gene mutations in Japanese Werner's syndrome patients. Hum Genet (1997) 1.22
A nucleolar targeting sequence in the Werner syndrome protein resides within residues 949-1092. J Cell Sci (2002) 1.21
The Werner syndrome protein stimulates DNA polymerase beta strand displacement synthesis via its helicase activity. J Biol Chem (2003) 1.19
Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet (1996) 1.19
Cytogenetic aspects of Werner syndrome. Adv Exp Med Biol (1985) 1.19
Werner protein stimulates topoisomerase I DNA relaxation activity. Cancer Res (2003) 1.15
Regulation of WRN helicase activity in human base excision repair. J Biol Chem (2004) 1.15
Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. Biochem Biophys Res Commun (1997) 1.12
WRN mutations in Werner syndrome. Hum Mutat (1999) 1.11
Genetic instability and hematologic disease risk in Werner syndrome patients and heterozygotes. Cancer Res (2000) 1.10
Homozygosity mapping of the Werner syndrome locus (WRN). Genomics (1994) 1.09
Poly(ADP-ribose) polymerase 1 regulates both the exonuclease and helicase activities of the Werner syndrome protein. Nucleic Acids Res (2004) 1.09
The interaction site of Flap Endonuclease-1 with WRN helicase suggests a coordination of WRN and PCNA. Nucleic Acids Res (2005) 1.08
Prevalence of Werner's syndrome heterozygotes in Japan. Lancet (1999) 1.08
What geriatricians should know about the Werner syndrome. J Am Geriatr Soc (1999) 1.07
p53 modulates RPA-dependent and RPA-independent WRN helicase activity. Cancer Res (2005) 1.06
Modulation of Werner syndrome protein function by a single mutation in the conserved RecQ domain. J Biol Chem (2005) 1.05
Diverged nuclear localization of Werner helicase in human and mouse cells. Oncogene (2001) 1.04
Differential effects of cytotoxic drugs on mortal and immortalized B-lymphoblastoid cell lines from normal and Werner's syndrome patients. Biol Pharm Bull (1998) 1.01
Cytogenetic aspects of Werner's syndrome lymphocyte cultures. Mech Ageing Dev (1995) 0.80
Werner syndrome: characterization of mutations in the WRN gene in an affected family. Eur J Hum Genet (1998) 0.78
MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods (2010) 16.61
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Extension of murine life span by overexpression of catalase targeted to mitochondria. Science (2005) 10.11
DHEA in elderly women and DHEA or testosterone in elderly men. N Engl J Med (2006) 7.90
Treatment of patients with the hypereosinophilic syndrome with mepolizumab. N Engl J Med (2008) 5.94
Revised nomenclature for allergy for global use: Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003. J Allergy Clin Immunol (2004) 5.80
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan. N Engl J Med (2011) 5.13
LMNA mutations in atypical Werner's syndrome. Lancet (2003) 4.81
Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. J Clin Invest (2002) 4.75
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet (2004) 4.58
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Hypereosinophilic syndrome: a multicenter, retrospective analysis of clinical characteristics and response to therapy. J Allergy Clin Immunol (2009) 3.74
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med (2011) 3.46
Sequencing and analysis of the genome of the Whipple's disease bacterium Tropheryma whipplei. Lancet (2003) 3.30
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Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet (2002) 3.09
GeneTests-GeneClinics: genetic testing information for a growing audience. Hum Mutat (2002) 2.97
Overexpression of catalase targeted to mitochondria attenuates murine cardiac aging. Circulation (2009) 2.96
Tissue architecture: the ultimate regulator of breast epithelial function. Curr Opin Cell Biol (2003) 2.92
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Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet (2006) 2.66
Hyperglycemia and acute coronary syndrome: a scientific statement from the American Heart Association Diabetes Committee of the Council on Nutrition, Physical Activity, and Metabolism. Circulation (2008) 2.65
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet (2002) 2.63
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet (2010) 2.61
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nat Neurosci (2007) 2.54
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Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia (2012) 2.45
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Association of human aging with a functional variant of klotho. Proc Natl Acad Sci U S A (2002) 2.38
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Mutual antagonism of T cells causing psoriasis and atopic eczema. N Engl J Med (2011) 2.28
Lack of myostatin results in excessive muscle growth but impaired force generation. Proc Natl Acad Sci U S A (2007) 2.25
World allergy organization guidelines for the assessment and management of anaphylaxis. World Allergy Organ J (2011) 2.24
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World Allergy Organization anaphylaxis guidelines: summary. J Allergy Clin Immunol (2011) 2.16
Elements of morphology: standard terminology for the head and face. Am J Med Genet A (2009) 2.15
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XLMR genes: update 2007. Eur J Hum Genet (2008) 2.07
Subepidermal cleft formation as a diagnostic marker for cutaneous malignant melanoma. Hum Pathol (2005) 2.06
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The genetics of human longevity. Am J Med (2004) 1.97
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Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet (2003) 1.93
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Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria. Brain (2010) 1.86
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol (2006) 1.86
Werner syndrome protein limits MYC-induced cellular senescence. Genes Dev (2003) 1.84
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Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. Eur J Hum Genet (2007) 1.83
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GeneDistiller--distilling candidate genes from linkage intervals. PLoS One (2008) 1.77
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77
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Reduced hippocampal functional connectivity in Alzheimer disease. Arch Neurol (2007) 1.75
CFC syndrome. Am J Med Genet A (2003) 1.74
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet (2012) 1.71
Association of the PDCD5 locus with lung cancer risk and prognosis in smokers. J Clin Oncol (2006) 1.71
Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol (2007) 1.71
Laboratory acquired infection with recombinant vaccinia virus containing an immunomodulating construct. J Invest Dermatol (2003) 1.71
The ring 14 syndrome: clinical and molecular definition. Am J Med Genet A (2009) 1.70
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. J Invest Dermatol (2006) 1.70
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Cerebrospinal fluid dynamics between the basal cisterns and the subarachnoid space of the optic nerve in patients with papilloedema. Br J Ophthalmol (2010) 1.69
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain (2010) 1.67
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet (2003) 1.67
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet (2007) 1.67
Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. Leuk Res (2009) 1.67
Genotype-phenotype correlations in Fanconi anemia. Mutat Res (2009) 1.65
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab (2003) 1.65
Leptin reverses nonalcoholic steatohepatitis in patients with severe lipodystrophy. Hepatology (2005) 1.63
Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore) (2004) 1.62
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet (2010) 1.62
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet (2012) 1.61
IL-17 in atopic eczema: linking allergen-specific adaptive and microbial-triggered innate immune response. J Allergy Clin Immunol (2008) 1.61