Published in Hum Mol Genet on April 27, 2007
A CTCF-independent role for cohesin in tissue-specific transcription. Genome Res (2010) 3.89
Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol (2009) 2.89
Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome. Chromosoma (2007) 2.73
Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet (2009) 2.14
Cohesin: genomic insights into controlling gene transcription and development. Curr Opin Genet Dev (2011) 2.12
RAD21 mutations cause a human cohesinopathy. Am J Hum Genet (2012) 1.72
Cornelia de Lange syndrome, cohesin, and beyond. Clin Genet (2009) 1.68
Cohesin and human disease. Annu Rev Genomics Hum Genet (2008) 1.68
Regulation of the Drosophila Enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins. PLoS One (2009) 1.58
Cohesinopathies, gene expression, and chromatin organization. J Cell Biol (2010) 1.55
Assessing cancer risks of low-dose radiation. Nat Rev Cancer (2009) 1.53
The ancient and evolving roles of cohesin in gene expression and DNA repair. Curr Biol (2012) 1.49
On the molecular etiology of Cornelia de Lange syndrome. Ann N Y Acad Sci (2009) 1.44
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet (2008) 1.37
The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications. Nucleic Acids Res (2008) 1.17
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. PLoS One (2009) 1.08
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome. Chromosome Res (2009) 1.01
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients. Eur J Hum Genet (2012) 0.98
Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies. Biochim Biophys Acta (2013) 0.97
Genome-wide DNA methylation analysis in cohesin mutant human cell lines. Nucleic Acids Res (2010) 0.95
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. Anemia (2010) 0.95
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat (2009) 0.93
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. Eur J Hum Genet (2011) 0.92
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination. J Exp Med (2013) 0.91
Phosphoproteomics profiling of human skin fibroblast cells reveals pathways and proteins affected by low doses of ionizing radiation. PLoS One (2010) 0.87
Cohesinopathies of a feather flock together. PLoS Genet (2013) 0.87
BAF180 promotes cohesion and prevents genome instability and aneuploidy. Cell Rep (2014) 0.86
Cohesin: a critical chromatin organizer in mammalian gene regulation. Biochem Cell Biol (2011) 0.84
Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome. Biochim Biophys Acta (2013) 0.83
The roles of cohesins in mitosis, meiosis, and human health and disease. Methods Mol Biol (2014) 0.82
Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase I. Chromosoma (2013) 0.82
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. J Proteome Res (2012) 0.82
Drosophila TDP-43 RNA-Binding Protein Facilitates Association of Sister Chromatid Cohesion Proteins with Genes, Enhancers and Polycomb Response Elements. PLoS Genet (2016) 0.82
Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report. J Med Case Rep (2011) 0.81
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. BMC Med Genet (2013) 0.80
Linking chromosome duplication and segregation via sister chromatid cohesion. Methods Mol Biol (2014) 0.79
Immunologic features of Cornelia de Lange syndrome. Pediatrics (2013) 0.76
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome. Int J Mol Sci (2017) 0.75
The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics. Am J Med Genet C Semin Med Genet (2016) 0.75
Importance of rare gene copy number alterations for personalized tumor characterization and survival analysis. Genome Biol (2016) 0.75
A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development. PLoS Genet (2016) 0.75
Inhibition of the lytic cycle of Kaposi's sarcoma-associated herpesvirus by cohesin factors following de novo infection. Virology (2017) 0.75
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet (2005) 4.92
Genetic steps of mammalian homologous repair with distinct mutagenic consequences. Mol Cell Biol (2004) 3.96
Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. Cell Res (2008) 3.83
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation (2006) 3.44
Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol Cell (2006) 2.84
The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome. J Am Coll Cardiol (2010) 2.56
Nuclear dynamics of RAD52 group homologous recombination proteins in response to DNA damage. EMBO J (2002) 2.45
Mouse Sycp1 functions in synaptonemal complex assembly, meiotic recombination, and XY body formation. Genes Dev (2005) 2.38
Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. N Engl J Med (2008) 2.34
Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. Blood (2009) 2.33
Heterochromatin protein 1 is recruited to various types of DNA damage. J Cell Biol (2009) 2.26
Three DNA polymerases, recruited by different mechanisms, carry out NER repair synthesis in human cells. Mol Cell (2010) 2.09
The NuRD chromatin-remodeling complex regulates signaling and repair of DNA damage. J Cell Biol (2010) 2.06
The cell-surface marker MTS24 identifies a novel population of follicular keratinocytes with characteristics of progenitor cells. Development (2006) 2.04
CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J (2003) 1.96
Rapid switching of TFIIH between RNA polymerase I and II transcription and DNA repair in vivo. Mol Cell (2002) 1.90
A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization. Cardiovasc Res (2003) 1.89
Sealing of chromosomal DNA nicks during nucleotide excision repair requires XRCC1 and DNA ligase III alpha in a cell-cycle-specific manner. Mol Cell (2007) 1.89
Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. J Am Coll Cardiol (2011) 1.89
Two levels of interference in mouse meiotic recombination. Proc Natl Acad Sci U S A (2006) 1.61
Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. Heart Rhythm (2006) 1.57
The UV-damaged DNA binding protein mediates efficient targeting of the nucleotide excision repair complex to UV-induced photo lesions. DNA Repair (Amst) (2005) 1.57
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm (2008) 1.56
Persistent transcription-blocking DNA lesions trigger somatic growth attenuation associated with longevity. Nat Cell Biol (2009) 1.55
DNA damage response and transcription. DNA Repair (Amst) (2011) 1.54
Cytogenetic effects of hexavalent chromium in Bulgarian chromium platers. Mutat Res (2002) 1.48
Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene. Heart Rhythm (2011) 1.46
DNA double-strand break repair by homologous recombination. Biol Chem (2002) 1.44
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. Am J Hum Genet (2010) 1.42
Dynamic in vivo interaction of DDB2 E3 ubiquitin ligase with UV-damaged DNA is independent of damage-recognition protein XPC. J Cell Sci (2007) 1.42
Use of a human-derived liver cell line for the detection of cytoprotective, antigenotoxic and cogenotoxic agents. Toxicology (2004) 1.41
Identification of conserved pathways of DNA-damage response and radiation protection by genome-wide RNAi. Curr Biol (2006) 1.35
Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. Hum Mol Genet (2002) 1.29
Separate domains of Rev1 mediate two modes of DNA damage bypass in mammalian cells. Mol Cell Biol (2009) 1.29
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. Circ Cardiovasc Genet (2014) 1.27
How to reduce false positive results when undertaking in vitro genotoxicity testing and thus avoid unnecessary follow-up animal tests: Report of an ECVAM Workshop. Mutat Res (2007) 1.22
International study of factors affecting human chromosome translocations. Mutat Res (2008) 1.21
High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet (2013) 1.21
HERG channel (dys)function revealed by dynamic action potential clamp technique. Biophys J (2004) 1.20
Enhanced DDB2 expression protects mice from carcinogenic effects of chronic UV-B irradiation. Cancer Res (2005) 1.17
Chinese hamster cell mutant, V-C8, a model for analysis of Brca2 function. Mutat Res (2006) 1.17
Ionizing radiation-induced foci formation of mammalian Rad51 and Rad54 depends on the Rad51 paralogs, but not on Rad52. Mutat Res (2005) 1.14
Poly(ADP-ribosyl)ation links the chromatin remodeler SMARCA5/SNF2H to RNF168-dependent DNA damage signaling. J Cell Sci (2012) 1.13
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2. PLoS One (2009) 1.08
Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2. Mutat Res (2006) 1.08
Microarray analysis of gene expression profiles of cardiac myocytes and fibroblasts after mechanical stress, ionising or ultraviolet radiation. BMC Genomics (2005) 1.07
Nucleotide excision repair and its interplay with transcription. Toxicology (2003) 1.07
Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotype-negative patients with catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm (2012) 1.06
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol (2012) 1.05
Genotoxicity of soluble and particulate cadmium compounds: impact on oxidative DNA damage and nucleotide excision repair. Chem Res Toxicol (2010) 1.04
The Drosophila melanogaster DNA Ligase IV gene plays a crucial role in the repair of radiation-induced DNA double-strand breaks and acts synergistically with Rad54. Genetics (2003) 1.04
Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. Cardiovasc Res (2005) 1.03
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet (2014) 1.03
Replication factor C recruits DNA polymerase delta to sites of nucleotide excision repair but is not required for PCNA recruitment. Mol Cell Biol (2010) 1.02
Meiosis in mice without a synaptonemal complex. PLoS One (2011) 1.01
Lig4 and rad54 are required for repair of DNA double-strand breaks induced by P-element excision in Drosophila. Genetics (2004) 1.00
UV-induced photolesions elicit ATR-kinase-dependent signaling in non-cycling cells through nucleotide excision repair-dependent and -independent pathways. J Cell Sci (2011) 0.99
Differential expression and requirements for Schizosaccharomyces pombe RAD52 homologs in DNA repair and recombination. Nucleic Acids Res (2002) 0.99
Transcription-dependent cytosine deamination is a novel mechanism in ultraviolet light-induced mutagenesis. Curr Biol (2009) 0.98
Clusters of transcription-coupled repair in the human genome. Proc Natl Acad Sci U S A (2002) 0.97
Gene transcription increases DNA damage-induced mutagenesis in mammalian stem cells. DNA Repair (Amst) (2008) 0.97
Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle. Mutat Res (2006) 0.95
Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique. J Physiol (2005) 0.95
The role of XPC: implications in cancer and oxidative DNA damage. Mutat Res (2011) 0.94
Disruption of Drosophila Rad50 causes pupal lethality, the accumulation of DNA double-strand breaks and the induction of apoptosis in third instar larvae. DNA Repair (Amst) (2004) 0.94
Cellular concentrations of DDB2 regulate dynamic binding of DDB1 at UV-induced DNA damage. Mol Cell Biol (2008) 0.93
Global phosphoproteome profiling reveals unanticipated networks responsive to cisplatin treatment of embryonic stem cells. Mol Cell Biol (2011) 0.93
Rationale and cross-sectional study design of the Research on Obesity and type 2 Diabetes among African Migrants: the RODAM study. BMJ Open (2014) 0.93
Epidermal stem and progenitor cells in murine epidermis accumulate UV damage despite NER proficiency. Carcinogenesis (2006) 0.92
Differential repair of the two major UV-induced photolesions in trichothiodystrophy fibroblasts. Cancer Res (2004) 0.91
Differential activity of UV-DDB in mouse keratinocytes and fibroblasts: impact on DNA repair and UV-induced skin cancer. DNA Repair (Amst) (2008) 0.89
Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. Eur J Hum Genet (2007) 0.89
Replication protein A safeguards genome integrity by controlling NER incision events. J Cell Biol (2011) 0.89
Premature chromosome condensation revisited: a novel chemical approach permits efficient cytogenetic analysis of cancers. Genes Chromosomes Cancer (2003) 0.89
IKs in heart and hearing, the ear can do with less than the heart. Circ Cardiovasc Genet (2013) 0.89
Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation. Cardiovasc Res (2007) 0.88
The impact of the bystander effect on the low-dose hypersensitivity phenomenon. Radiat Environ Biophys (2008) 0.88
Rad51C is essential for embryonic development and haploinsufficiency causes increased DNA damage sensitivity and genomic instability. Mutat Res (2010) 0.88
Metakaryotic stem cell lineages in organogenesis of humans and other metazoans. Organogenesis (2009) 0.87
Induction of nevi and skin tumors in Ink4a/Arf Xpa knockout mice by neonatal, intermittent, or chronic UVB exposures. Cancer Res (2006) 0.87
Deficient global genome repair of UV-induced cyclobutane pyrimidine dimers in terminally differentiated myocytes and proliferating fibroblasts from the rat heart. DNA Repair (Amst) (2003) 0.86
Pre-exposure to low doses: modulation of X-ray-induced dna damage and repair? Radiat Res (2005) 0.86
Association between transcriptional activity, local chromatin structure, and the efficiencies of both subpathways of nucleotide excision repair of melphalan adducts. Cancer Res (2009) 0.85
Inactivation of RAD52 aggravates RAD54 defects in mice but not in Schizosaccharomyces pombe. DNA Repair (Amst) (2005) 0.85
Assessing the applicability of FISH-based prematurely condensed dicentric chromosome assay in triage biodosimetry. Health Phys (2015) 0.85
Impact of arsenic on nucleotide excision repair: XPC function, protein level, and gene expression. Mol Nutr Food Res (2009) 0.84
Repair of DNA lesions in chromosomal DNA impact of chromatin structure and Cockayne syndrome proteins. DNA Repair (Amst) (2005) 0.83
Human keratinocytes produce the complement inhibitor factor I: Synthesis is regulated by interferon-gamma. Mol Immunol (2007) 0.83
Mismatch repair protein Msh2 contributes to UVB-induced cell cycle arrest in epidermal and cultured mouse keratinocytes. DNA Repair (Amst) (2005) 0.83
Enhanced global genome nucleotide excision repair reduces UV carcinogenesis and nullifies strand bias in p53 mutations in Csb-/- mice. J Invest Dermatol (2010) 0.83
Selective DNA damage responses in murine Xpa-/-, Xpc-/- and Csb-/- keratinocyte cultures. DNA Repair (Amst) (2005) 0.83