Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome - Wikidata - awgldk - TriplyDB

Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

http://www.wikidata.org/entity/Q24550683

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Initial genomics of the human nucleolus Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor Treacher Collins syndrome: etiology, pathogenesis and prevention Treacher Collins syndrome: unmasking the role of Tcof1/treacle Ribosomopathies: Global process, tissue specific defects Facial dysostoses: Etiology, pathogenesis and management Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome.Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders A systematic RNAi synthetic interaction screen reveals a link between p53 and snoRNP assembly.Two splice variants of Nopp140 in Drosophila melanogaster.Learning cell biology as a team: a project-based approach to upper-division cell biology Disruption of Ledgf/Psip1 results in perinatal mortality and homeotic skeletal transformations RNAi knockdown of Nopp140 induces Minute-like phenotypes in Drosophila.First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes.Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation.A non-catalytic role for inositol 1,3,4,5,6-pentakisphosphate 2-kinase in the synthesis of ribosomal RNA.The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.Nonphosphorylated human La antigen interacts with nucleolin at nucleolar sites involved in rRNA biogenesis.Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development.Review of the Genetic Basis of Jaw Malformations.Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression.Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome.Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease.Deletion of Drosophila Nopp140 induces subcellular ribosomopathies.Lamin B2 Modulates Nucleolar Morphology, Dynamics, and Function.Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle.Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene.Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.Treacher Collins syndrome Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions Viral regulation of host cell biology by hijacking of the nucleolar DNA-damage response Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

http://www.wikidata.org/entity/Q24550683

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2000 nî lūn-bûn

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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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name

Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

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Molecular Biology of the Cell

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Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome

@en

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C Isaac

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E W Jabs

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J Dixon

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K L Marsh

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M J Dixon

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U T Meier

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W A Paznekas

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Assembly of the Nuclear Transcription and Processing Machinery: Cajal Bodies (Coiled Bodies) and Transcriptosomes

Conserved composition of mammalian box H/ACA and box C/D small nucleolar ribonucleoprotein particles and their interaction with the common factor Nopp140

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

Human Nopp140, which interacts with RNA polymerase I: implications for rRNA gene transcription and nucleolar structural organization

Human autoantibody to a novel protein of the nuclear coiled body: immunological characterization and cDNA cloning of p80-coilin

Nopp140 functions as a molecular link between the nucleolus and the coiled bodies

Comparison of the rat nucleolar protein nopp140 with its yeast homolog SRP40. Differential phosphorylation in vertebrates and yeast.

Older paternal age and fresh gene mutation: data on additional disorders

Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle

Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18

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10.1091/MBC.11.9.3061

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