Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
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P1343
The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case reportMetazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidanceCornelia de Lange syndrome, cohesin, and beyondSMC complexes link gene expression and genome architectureCohesinopathies of a feather flock togetherMultiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange SyndromeChl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae.Thalidomide-induced teratogenesis: history and mechanismsDosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathiesCohesin: functions beyond sister chromatid cohesionCohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatinThe non-redundant function of cohesin acetyltransferase Esco2: some answers and new questions.Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndromeDefective sister chromatid cohesion is synthetically lethal with impaired APC/C function.Elucidating the genetic basis of an oligogenic birth defect using whole genome sequence data in a non-model organism, Bubalus bubalis.Targeted sister chromatid cohesion by Sir2.A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycleEstablishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes).Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells.3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.The roles of cohesins in mitosis, meiosis, and human health and disease.Age-related aneuploidy through cohesion exhaustion.RAD21 mutations cause a human cohesinopathyCohesin and human disease.Functional modules, mutational load and human genetic diseaseOn the molecular etiology of Cornelia de Lange syndrome.Cohesin: a regulator of genome integrity and gene expression.Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies.Expanding the mutation and clinical spectrum of Roberts syndrome.Genome stability: What we have learned from cohesinopathies.How many roads lead to cohesinopathies?Cloning of Xenopus orthologs of Ctf7/Eco1 acetyltransferase and initial characterization of XEco2.A genetic screen to discover pathways affecting cohesin function in Schizosaccharomyces pombe identifies chromatin effectors.Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage SyndromeStructural Basis of Eco1-Mediated Cohesin Acetylation.2012 William Allan Award: Adventures in cytogenetics.
P2860
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P2860
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Inactivating mutations in ESCO ...... phenotype-genotype correlation
@nl
Inactivating mutations in ESCO ...... henotype-genotype correlation.
@ast
Inactivating mutations in ESCO ...... henotype-genotype correlation.
@en
type
label
Inactivating mutations in ESCO ...... phenotype-genotype correlation
@nl
Inactivating mutations in ESCO ...... henotype-genotype correlation.
@ast
Inactivating mutations in ESCO ...... henotype-genotype correlation.
@en
prefLabel
Inactivating mutations in ESCO ...... phenotype-genotype correlation
@nl
Inactivating mutations in ESCO ...... henotype-genotype correlation.
@ast
Inactivating mutations in ESCO ...... henotype-genotype correlation.
@en
P2093
P2860
P356
P1476
Inactivating mutations in ESCO ...... henotype-genotype correlation.
@en
P2093
Angelica Oviedo
Birgitt Schüle
Kathreen Johnston
Shashidhar Pai
Uta Francke
P2860
P304
P356
10.1086/498695
P407
P577
2005-10-31T00:00:00Z