Published in J Cell Sci on May 30, 2006
The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3. Genes Dev (2010) 4.00
PML nuclear bodies. Cold Spring Harb Perspect Biol (2010) 2.44
The XNP remodeler targets dynamic chromatin in Drosophila. Proc Natl Acad Sci U S A (2009) 1.86
Herpes simplex virus type 1 genomes are associated with ND10 nuclear substructures in quiescently infected human fibroblasts. J Virol (2007) 1.65
The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers. BMC Cancer (2007) 1.63
ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. Autoimmunity (2008) 1.43
From an old remedy to a magic bullet: molecular mechanisms underlying the therapeutic effects of arsenic in fighting leukemia. Blood (2011) 1.41
Dynamics of telomeres and promyelocytic leukemia nuclear bodies in a telomerase-negative human cell line. Mol Biol Cell (2009) 1.40
Probing PML body function in ALT cells reveals spatiotemporal requirements for telomere recombination. Proc Natl Acad Sci U S A (2009) 1.27
Sumoylation of the transcription factor NFATc1 leads to its subnuclear relocalization and interleukin-2 repression by histone deacetylase. J Biol Chem (2009) 1.13
A novel cell response triggered by interphase centromere structural instability. J Cell Biol (2007) 1.11
The chromatin remodelling factor dATRX is involved in heterochromatin formation. PLoS One (2008) 1.09
Functional reorganization of promyelocytic leukemia nuclear bodies during BK virus infection. MBio (2011) 1.02
Heterochromatin instability in cancer: from the Barr body to satellites and the nuclear periphery. Semin Cancer Biol (2012) 1.01
Induction of alternative lengthening of telomeres-associated PML bodies by p53/p21 requires HP1 proteins. J Cell Biol (2009) 1.01
The nuclear bodies inside out: PML conquers the cytoplasm. Curr Opin Cell Biol (2011) 1.01
HSV-1 genome subnuclear positioning and associations with host-cell PML-NBs and centromeres regulate LAT locus transcription during latency in neurons. PLoS Pathog (2012) 0.98
Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span. J Clin Invest (2013) 0.98
PML body meets telomere: the beginning of an ALTernate ending? Nucleus (2012) 0.94
PML bodies provide an important platform for the maintenance of telomeric chromatin integrity in embryonic stem cells. Nucleic Acids Res (2013) 0.92
Dual functions of histone-lysine N-methyltransferase Setdb1 protein at promyelocytic leukemia-nuclear body (PML-NB): maintaining PML-NB structure and regulating the expression of its associated genes. J Biol Chem (2011) 0.92
Dynamics of histone H3.3 deposition in proliferating and senescent cells reveals a DAXX-dependent targeting to PML-NBs important for pericentromeric heterochromatin organization. Cell Cycle (2013) 0.88
Altered intra-nuclear organisation of heterochromatin and genes in ICF syndrome. PLoS One (2010) 0.84
Compositional Control of Phase-Separated Cellular Bodies. Cell (2016) 0.83
Impact of nuclear organization and dynamics on epigenetic regulation in the central nervous system: implications for neurological disease states. Ann N Y Acad Sci (2010) 0.82
WRN loss induces switching of telomerase-independent mechanisms of telomere elongation. PLoS One (2014) 0.81
Disruption of host antiviral resistances by gammaherpesvirus tegument proteins with homology to the FGARAT purine biosynthesis enzyme. Curr Opin Virol (2015) 0.81
Chromatin maintenance and dynamics in senescence: a spotlight on SAHF formation and the epigenome of senescent cells. Chromosoma (2014) 0.81
Subcellular distribution of human RDM1 protein isoforms and their nucleolar accumulation in response to heat shock and proteotoxic stress. Nucleic Acids Res (2007) 0.81
PML nuclear bodies: assembly and oxidative stress-sensitive sumoylation. Nucleus (2014) 0.79
RAD54 family translocases counter genotoxic effects of RAD51 in human tumor cells. Nucleic Acids Res (2015) 0.79
Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for Diseases. Biology (Basel) (2014) 0.79
Deficiency of the dual ubiquitin/SUMO ligase Topors results in genetic instability and an increased rate of malignancy in mice. BMC Mol Biol (2010) 0.79
In human pachytene spermatocytes, SUMO protein is restricted to the constitutive heterochromatin. Chromosome Res (2008) 0.79
Reactive oxygen species exert opposite effects on Tyr23 phosphorylation of the nuclear and cortical pools of annexin A2. J Cell Sci (2015) 0.78
Compartmentalization and Functionality of Nuclear Disorder: Intrinsic Disorder and Protein-Protein Interactions in Intra-Nuclear Compartments. Int J Mol Sci (2015) 0.77
A novel single cell method to identify the genetic composition at a single nuclear body. Sci Rep (2016) 0.76
Visualization and quantitative analysis of extrachromosomal telomere-repeat DNA in individual human cells by Halo-FISH. Nucleic Acids Res (2015) 0.76
JC virus inclusions in progressive multifocal leukoencephalopathy: scaffolding promyelocytic leukemia nuclear bodies grow with cell cycle transition through an S-to-G2-like state in enlarging oligodendrocyte nuclei. J Neuropathol Exp Neurol (2014) 0.75
The Cardiac Stress Response Factor Ms1 Can Bind to DNA and Has a Function in the Nucleus. PLoS One (2015) 0.75
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med (2008) 2.56
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
BRCA1 supports XIST RNA concentration on the inactive X chromosome. Cell (2002) 2.24
Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci (2005) 2.20
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet (2007) 1.82
Mitotic catastrophe constitutes a special case of apoptosis whose suppression entails aneuploidy. Oncogene (2004) 1.79
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet (2003) 1.71
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62
High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors. Cancer Res (2009) 1.61
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet (2007) 1.54
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain (2012) 1.50
Splicing-directed therapy in a new mouse model of human accelerated aging. Sci Transl Med (2011) 1.49
BRCA1 is required for postreplication repair after UV-induced DNA damage. Mol Cell (2011) 1.48
Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: evidence by microarray CGH. Am J Med Genet A (2004) 1.45
X-chromosome genetics and human cancer. Nat Rev Cancer (2004) 1.39
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest (2004) 1.39
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol (2010) 1.32
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum Mol Genet (2007) 1.25
Mitochondrial dynamics in heart cells: very low amplitude high frequency fluctuations in adult cardiomyocytes and flow motion in non beating Hl-1 cells. J Bioenerg Biomembr (2009) 1.25
Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. Eur J Neurosci (2007) 1.23
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet (2010) 1.21
Possible role of cytoskeleton in intracellular arrangement and regulation of mitochondria. Exp Physiol (2003) 1.19
Mitochondrial defects and heterogeneous cytochrome c release after cardiac cold ischemia and reperfusion. Am J Physiol Heart Circ Physiol (2003) 1.18
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet (2010) 1.18
Deleterious mutations in exon 1 of MECP2 in Rett syndrome. Eur J Med Genet (2005) 1.17
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol (2003) 1.16
Further evidence for BRCA1 communication with the inactive X chromosome. Cell (2007) 1.15
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet (2011) 1.14
TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution. Chromosome Res (2004) 1.14
Down-regulation of BRCA1 in BCR-ABL-expressing hematopoietic cells. Blood (2003) 1.13
Spatiotemporal dynamics of actin-rich adhesion microdomains: influence of substrate flexibility. J Cell Sci (2006) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining. Oncogene (2002) 1.12
Heterogeneity of ADP diffusion and regulation of respiration in cardiac cells. Biophys J (2003) 1.12
Subcellular heterogeneity of mitochondrial function and dysfunction: evidence obtained by confocal imaging. Mol Cell Biochem (2004) 1.11
XNP-1/ATR-X acts with RB, HP1 and the NuRD complex during larval development in C. elegans. Dev Biol (2005) 1.10
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations. Eur J Hum Genet (2007) 1.09
The incidence of Rett syndrome in France. Pediatr Neurol (2006) 1.09
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Invest Ophthalmol Vis Sci (2006) 1.08
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet (2010) 1.08
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene (2003) 1.07
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol (2008) 1.05
Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. Blood (2003) 1.05
Oncolytic activity of the E1B-55 kDa-deleted adenovirus ONYX-015 is independent of cellular p53 status in human malignant glioma xenografts. Cancer Res (2002) 1.05
Extended spectrum of MBD5 mutations in neurodevelopmental disorders. Eur J Hum Genet (2013) 1.03
Childhood leukaemia, polymorphisms of metabolism enzyme genes, and interactions with maternal tobacco, coffee and alcohol consumption during pregnancy. Eur J Cancer Prev (2005) 1.01
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet (2012) 1.01
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet (2009) 1.01
Human BAHD1 promotes heterochromatic gene silencing. Proc Natl Acad Sci U S A (2009) 0.98
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet (2012) 0.98
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. J Med Genet (2009) 0.97
Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat (2007) 0.97
Regulation of respiration in muscle cells in vivo by VDAC through interaction with the cytoskeleton and MtCK within Mitochondrial Interactosome. Biochim Biophys Acta (2012) 0.97
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol (2013) 0.97
SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet (2010) 0.97
Genetic epidemiology of neuroblastoma: a study of 426 cases at the Institut Gustave-Roussy in France. Pediatr Blood Cancer (2004) 0.97
TCF4 deletions in Pitt-Hopkins Syndrome. Hum Mutat (2008) 0.96
1q12 chromosome translocations form aberrant heterochromatic foci associated with changes in nuclear architecture and gene expression in B cell lymphoma. EMBO Mol Med (2010) 0.94
Megakaryocyte polyploidization is associated with a functional gene amplification. Blood (2002) 0.93
Wdr12, a mouse gene encoding a novel WD-Repeat Protein with a notchless-like amino-terminal domain. Genomics (2002) 0.93
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One (2012) 0.93
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res (2013) 0.92
Loss of FADD protein expression results in a biased Fas-signaling pathway and correlates with the development of tumoral status in thyroid follicular cells. Oncogene (2003) 0.92
Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet (2005) 0.92
Microfibrils and fibrillin-1 induce integrin-mediated signaling, proliferation and migration in human endothelial cells. Am J Physiol Cell Physiol (2010) 0.92
Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia. Haematologica (2011) 0.92
Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report. Am J Med Genet A (2003) 0.92
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. Eur J Hum Genet (2010) 0.91
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. PLoS One (2011) 0.91
Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential. Hum Mol Genet (2012) 0.91
Cryopreservation of mitochondria and mitochondrial function in cardiac and skeletal muscle fibers. Anal Biochem (2003) 0.91
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity. Am J Med Genet A (2014) 0.91
Molecular cloning and characterization of mouse LITAF cDNA: role in the regulation of tumor necrosis factor-alpha (TNF-alpha) gene expression. J Endotoxin Res (2004) 0.90
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest (2015) 0.90
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol (2014) 0.90
Genotype-phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet A (2011) 0.89
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet (2013) 0.88
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. Hum Mutat (2012) 0.88
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. Eur J Hum Genet (2012) 0.88
Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier. Fertil Steril (2011) 0.87
Sex ratio among the offspring of BRCA mutation carriers. JAMA (2004) 0.86
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. Cancer Genet Cytogenet (2004) 0.86
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet (2013) 0.85
Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man. Hum Reprod (2010) 0.85
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One (2013) 0.85
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A (2012) 0.85
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest (2016) 0.85
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France. J Cyst Fibros (2004) 0.84
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A (2012) 0.84
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies. Am J Med Genet A (2013) 0.84
Macrophage activation syndrome mimicking life-threatening infection in a patient with variable immunodeficiency, centromeric instability, and facial anomalies. Pediatrics (2004) 0.84