The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. - Wikidata - wikimedia - TriplyDB

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

http://www.wikidata.org/entity/Q34769846

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The cellular phenotype of Roberts syndrome fibroblasts as revealed by ectopic expression of ESCO2 Cornelia de Lange syndrome, cohesin, and beyond Cohesinopathy mutations disrupt the subnuclear organization of chromatin Cohesinopathies of a feather flock together The ancient and evolving roles of cohesin in gene expression and DNA repair Chl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae.Localization and regulation of murine Esco2 during male and female meiosis Cohesin acetyltransferase Esco2 is a cell viability factor and is required for cohesion in pericentric heterochromatin Molecular Basis for Cohesin Acetylation by Establishment of Sister Chromatid Cohesion N-Acetyltransferase ESCO1.Essential genes for astroglial development and axon pathfinding during zebrafish embryogenesis.Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report.A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes).3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.Sister acts: coordinating DNA replication and cohesion establishment.Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.Distinct mechanisms of inadequate erythropoiesis induced by tumor necrosis factor alpha or malarial pigment.Cohesin codes - interpreting chromatin architecture and the many facets of cohesin function.Chromatin determinants of the inner-centromere rely on replication factors with functions that impart cohesion Cohesinopathies, gene expression, and chromatin organization.Cohesin: a regulator of genome integrity and gene expression.The sister bonding of duplicated chromosomes.Cohesin: a critical chromatin organizer in mammalian gene regulation Diverse developmental disorders from the one ring: distinct molecular pathways underlie the cohesinopathies.Roberts syndrome: A deficit in acetylated cohesin leads to nucleolar dysfunction.Etiology and pathogenesis of the cohesinopathies.Expanding the mutation and clinical spectrum of Roberts syndrome.Invited review: Architectures and mechanisms of ATP binding cassette proteins.How many roads lead to cohesinopathies?Eco1 is important for DNA damage repair in S. cerevisiae.Cohesins coordinate gene transcriptions of related function within Saccharomyces cerevisiae.Binding, sliding, and function of cohesin during transcriptional activation Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.Genetic basis of cohesinopathies.Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome Structural Basis of Eco1-Mediated Cohesin Acetylation.Translational mechanisms at work in the cohesinopathies.The cohesin acetyltransferase Eco1 coordinates rDNA replication and transcription.Esco2 regulates cx43 expression during skeletal regeneration in the zebrafish fin.Cohesin mediates Esco2-dependent transcriptional regulation in a zebrafish regenerating fin model of Roberts Syndrome.

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P2860

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

http://www.wikidata.org/entity/Q34769846

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2008 nî lūn-bûn

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2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2008 թվականի ապրիլին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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The molecular mechanism underl ...... O2 acetyltransferase activity.

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The molecular mechanism underl ...... O2 acetyltransferase activity.

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The molecular mechanism underl ...... O2 acetyltransferase activity.

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The molecular mechanism underl ...... O2 acetyltransferase activity.

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The molecular mechanism underl ...... O2 acetyltransferase activity.

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Human Molecular Genetics

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The molecular mechanism underl ...... O2 acetyltransferase activity.

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Alison H Trainer

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Annick Raas-Rothschild

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Edward Blair

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Fajian Hou

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Francesca Forzano

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Hugo Vega

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Hui Zou

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Jane A Hurst

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Kalle O J Simola

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Keiichi Ozono

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P2860

Characterization of vertebrate cohesin complexes and their regulation in prophase

Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion.

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Yeast cohesin complex requires a conserved protein, Eco1p(Ctf7), to establish cohesion between sister chromatids during DNA replication

A direct link between sister chromatid cohesion and chromosome condensation revealed through the analysis of MCD1 in S. cerevisiae

A new mathematical model for relative quantification in real-time RT-PCR

Eco1 is a novel acetyltransferase that can acetylate proteins involved in cohesion.

Cohesins: chromosomal proteins that prevent premature separation of sister chromatids

Establishment of sister chromatid cohesion at the S. cerevisiae replication fork.

Ctf7p is essential for sister chromatid cohesion and links mitotic chromosome structure to the DNA replication machinery.

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2172-2180

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scholarly article

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10.1093/HMG/DDN116

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14

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17

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Hülya Kayserili

Flemming Skovby

Ethylin Wang Jabs

Ricardo Miguel Luque Bernal

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2008-04-14T00:00:00Z

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5441956

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18411254

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