Published in Hum Mutat on March 08, 2011
Replicative DNA polymerase δ but not ε proofreads errors in Cis and in Trans. PLoS Genet (2015) 0.92
Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays. Hered Cancer Clin Pract (2012) 0.89
LNA modification of single-stranded DNA oligonucleotides allows subtle gene modification in mismatch-repair-proficient cells. Proc Natl Acad Sci U S A (2016) 0.85
Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer. DNA Repair (Amst) (2015) 0.82
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. Proc Natl Acad Sci U S A (2016) 0.81
The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. Carcinogenesis (2012) 0.79
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. Hum Mutat (2012) 0.76
Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients. PLoS One (2013) 0.76
Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome. Fam Cancer (2016) 0.75
Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med (2003) 4.03
Retinoblastoma protein functions as a molecular switch determining white versus brown adipocyte differentiation. Proc Natl Acad Sci U S A (2004) 3.45
E2F mediates cell cycle-dependent transcriptional repression in vivo by recruitment of an HDAC1/mSin3B corepressor complex. Genes Dev (2002) 3.12
Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol Genet (2002) 2.48
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet (2008) 2.35
CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J (2003) 1.96
Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet (2003) 1.92
Loss of Rb proteins causes genomic instability in the absence of mitogenic signaling. Genes Dev (2010) 1.88
Shear stress sustains atheroprotective endothelial KLF2 expression more potently than statins through mRNA stabilization. Cardiovasc Res (2006) 1.80
Tissue-specific tumor suppressor activity of retinoblastoma gene homologs p107 and p130. Genes Dev (2004) 1.72
Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet (2006) 1.55
Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M. Hum Mol Genet (2009) 1.47
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol (2004) 1.45
Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo. J Cell Sci (2003) 1.44
Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell (2007) 1.43
Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J Clin Invest (2002) 1.41
MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol Cell Biol (2004) 1.30
A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells. Exp Cell Res (2005) 1.29
Targeted gene modification in mismatch-repair-deficient embryonic stem cells by single-stranded DNA oligonucleotides. Nucleic Acids Res (2003) 1.28
Prolonged shear stress and KLF2 suppress constitutive proinflammatory transcription through inhibition of ATF2. Blood (2007) 1.27
MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice. PLoS Genet (2009) 1.22
A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy. J Biol Chem (2001) 1.20
Subtle gene modification in mouse ES cells: evidence for incorporation of unmodified oligonucleotides without induction of DNA damage. Nucleic Acids Res (2010) 1.20
Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. Am J Pathol (2008) 1.17
Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles. Genes Cells (2007) 1.16
Tumor formation in mice with somatic inactivation of the retinoblastoma gene in interphotoreceptor retinol binding protein-expressing cells. Oncogene (2002) 1.16
Matrix metalloproteinase-1 associates with intracellular organelles and confers resistance to lamin A/C degradation during apoptosis. Am J Pathol (2005) 1.14
Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development. Dev Dyn (2010) 1.13
Emerin interacts in vitro with the splicing-associated factor, YT521-B. Eur J Biochem (2003) 1.12
The APC/C recruits cyclin B1-Cdk1-Cks in prometaphase before D box recognition to control mitotic exit. J Cell Biol (2010) 1.11
Specific nuclear envelope transmembrane proteins can promote the location of chromosomes to and from the nuclear periphery. Genome Biol (2013) 1.11
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy. J Clin Invest (2014) 1.08
Learning from a paradox: recent insights into Fanconi anaemia through studying mouse models. Dis Model Mech (2013) 1.05
Generation of a mouse mutant by oligonucleotide-mediated gene modification in ES cells. Nucleic Acids Res (2006) 1.04
Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun (2006) 1.03
Susceptibility of Msh2-deficient mice to inflammation-associated colorectal tumors. Cancer Res (2002) 1.02
Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features. PLoS One (2008) 1.01
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy. Hum Gene Ther (2004) 1.01
Strand bias in oligonucleotide-mediated dystrophin gene editing. Hum Mol Genet (2004) 1.00
Mitogen requirement for cell cycle progression in the absence of pocket protein activity. Cancer Cell (2005) 0.99
Absence of gemin5 from SMN complexes in nuclear Cajal bodies. BMC Cell Biol (2007) 0.98
The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking. J Mol Histol (2005) 0.97
Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex. J Biol Chem (2011) 0.97
Parameters of oligonucleotide-mediated gene modification in mouse ES cells. J Cell Mol Med (2009) 0.95
Novel function of the retinoblastoma protein in fat: regulation of white versus brown adipocyte differentiation. Cell Cycle (2004) 0.95
Msh2 deficiency does not contribute to cisplatin resistance in mouse embryonic stem cells. Oncogene (2004) 0.94
Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms. J Biol Chem (2011) 0.94
ApoE isoform-specific regulation of regeneration in the peripheral nervous system. Hum Mol Genet (2011) 0.93
DNA mismatch repair deficiency stimulates N-ethyl-N-nitrosourea-induced mutagenesis and lymphomagenesis. Cancer Res (2003) 0.89
Fancf-deficient mice are prone to develop ovarian tumours. J Pathol (2011) 0.89
The SMN interactome includes Myb-binding protein 1a. J Proteome Res (2010) 0.88
Tissue-specific mismatch repair protein expression: MSH3 is higher than MSH6 in multiple mouse tissues. DNA Repair (Amst) (2012) 0.86
Valproate and bone loss: iTRAQ proteomics show that valproate reduces collagens and osteonectin in SMA cells. J Proteome Res (2010) 0.86
Check, double check: the G2 barrier to cancer. Cell Cycle (2006) 0.86
High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines. Hum Mol Genet (2013) 0.86
Additive roles of XPA and MSH2 genes in UVB-induced skin tumorigenesis in mice. DNA Repair (Amst) (2002) 0.85
Mice defective in the mismatch repair gene Msh2 show increased predisposition to UVB radiation-induced skin cancer. DNA Repair (Amst) (2002) 0.84
82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands. Neuromuscul Disord (2002) 0.84
Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. Am J Pathol (2003) 0.84
A lamin A/C beta-strand containing the site of lipodystrophy mutations is a major surface epitope for a new panel of monoclonal antibodies. Biochim Biophys Acta (2004) 0.84
Retinoblastoma susceptibility gene product (pRb) and p107 functionally separate the requirements for serum and anchorage in the cell cycle G1-phase. J Biol Chem (2004) 0.83
Anchorage-independent growth of pocket protein-deficient murine fibroblasts requires bypass of G2 arrest and can be accomplished by expression of TBX2. Mol Cell Biol (2008) 0.83
Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon. Neuromuscul Disord (2012) 0.81
Characterisation of the transcription factor, SIX5, using a new panel of monoclonal antibodies. J Cell Biochem (2005) 0.81
Focusing on transcription factor families in atherogenesis: the function of LKLF and TR3. Thromb Haemost (2003) 0.81
The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress. J Cell Biochem (2011) 0.81
Nesprin-1 and nesprin-2 regulate endothelial cell shape and migration. Cytoskeleton (Hoboken) (2014) 0.80
Nesprin-2 epsilon: a novel nesprin isoform expressed in human ovary and Ntera-2 cells. Biochem Biophys Res Commun (2011) 0.79
Current research on SMN protein and treatment strategies for spinal muscular atrophy. Neuromuscul Disord (2011) 0.79
Heterozygosity for p53 promotes microsatellite instability and tumorigenesis on a Msh2 deficient background. Oncogene (2002) 0.78
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair. J Med Genet (2014) 0.78
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. Neuromuscul Disord (2006) 0.78
Msh2 deficiency increases susceptibility to benzo[a]pyrene-induced lymphomagenesis. Int J Cancer (2006) 0.78
Monitoring of recombinant survival motor neuron protein using fiber-optic surface plasmon resonance. Analyst (2004) 0.78
Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies. Biochem Biophys Res Commun (2012) 0.77
Retinoblastoma gene-independent G1 phase arrest by flavone, phosphatidylinositol 3-kinase inhibitor, and histone deacetylase inhibitor. Cancer Sci (2012) 0.77
Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients. PLoS One (2013) 0.76
Endosomal location of dopamine receptors in neuronal cell cytoplasm. J Mol Histol (2007) 0.76
A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy. Neuromuscul Disord (2011) 0.76
The gemin2-binding site on SMN protein: accessibility to antibody. Biochem Biophys Res Commun (2013) 0.75
Valuable lessons-learned in transcriptomics experimentation. Transcription (2015) 0.75
Valproate reduces collagen and osteonectin in cultured bone cells. Epilepsy Res (2013) 0.75
Abrogation of microsatellite-instable tumors using a highly selective suicide gene/prodrug combination. Mol Ther (2009) 0.75
Workshop on the nuclear envelope and Emery-Dreifuss muscular dystrophy 29th March 2006, Oswestry, UK. Neuromuscul Disord (2006) 0.75
Naturally occurring plant polyphenols as potential therapies for inherited neuromuscular diseases. Future Med Chem (2013) 0.75