Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
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BMS1 is mutated in aplasia cutis congenitaNovel mutations of TCOF1 gene in European patients with Treacher Collins syndromeA deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismDiamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defectsHaploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyRibosomopathies: how a common root can cause a tree of pathologiesBasic mechanisms in RNA polymerase I transcription of the ribosomal RNA genesFacial dysostoses: Etiology, pathogenesis and managementThe emerging roles of ribosome biogenesis in craniofacial developmentDiverse diseases from a ubiquitous process: the ribosomopathy paradoxCell-fate determination by ubiquitin-dependent regulation of translationAssociations between speech features and phenotypic severity in Treacher Collins syndrome.Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disordersPrepartal Energy Intake Alters Blood Polymorphonuclear Leukocyte Transcriptome During the Peripartal Period in Holstein CowsMutation of a Nopp140 gene dao-5 alters rDNA transcription and increases germ cell apoptosis in C. elegans.Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation.The role of nuclear bodies in gene expression and disease.Nucleolar stress with and without p53.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growthRibosomopathies: mechanisms of disease.Dysregulation of RNA polymerase I transcription during disease.Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.Surgical treatment of scoliosis in Treacher Collins syndrome: a case report.Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.Subunit compositions of Arabidopsis RNA polymerases I and III reveal Pol I- and Pol III-specific forms of the AC40 subunit and alternative forms of the C53 subunit.The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in XenopusRecessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeGross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation.Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndromeThe NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndromeLarge deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development.Genomic characterization of the mouse ribosomal DNA locus
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P2860
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in genes encoding su ...... use Treacher Collins syndrome.
@ast
Mutations in genes encoding su ...... use Treacher Collins syndrome.
@en
Mutations in genes encoding su ...... use Treacher Collins syndrome.
@nl
type
label
Mutations in genes encoding su ...... use Treacher Collins syndrome.
@ast
Mutations in genes encoding su ...... use Treacher Collins syndrome.
@en
Mutations in genes encoding su ...... use Treacher Collins syndrome.
@nl
prefLabel
Mutations in genes encoding su ...... use Treacher Collins syndrome.
@ast
Mutations in genes encoding su ...... use Treacher Collins syndrome.
@en
Mutations in genes encoding su ...... use Treacher Collins syndrome.
@nl
P2093
P2860
P356
P1433
P1476
Mutations in genes encoding su ...... ause Treacher Collins syndrome
@en
P2093
A Jeannette M Hoogeboom
Agnes Clement-de Boers
Ana M Cobo
Arie van Haeringen
Bronwyn Kerr
Claudia A L Ruivenkamp
Cornelia Daumer-Haas
Dagmar Wieczorek
Dietmar R Lohmann
Dorien J M Peters
P2860
P2888
P356
10.1038/NG.724
P407
P577
2010-12-05T00:00:00Z