A review of craniofacial disorders caused by spliceosomal defects.
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New insights into craniofacial malformationsAltered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisPUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresA systems-level approach reveals new gene regulatory modules in the developing earLocalized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegansRefining the phenotypical and mutational spectrum of Taybi-Linder syndrome.Functional genomics analyses of RNA-binding proteins reveal the splicing regulator SNRPB as an oncogenic candidate in glioblastoma.Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndromeDe Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveFrontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesDysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.Variant snRNPs: New players within the spliceosome system.Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.Mandibulofacial dysostosis Bauru type: Refining the phenotype.
P2860
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P2860
A review of craniofacial disorders caused by spliceosomal defects.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
A review of craniofacial disorders caused by spliceosomal defects.
@en
type
label
A review of craniofacial disorders caused by spliceosomal defects.
@en
prefLabel
A review of craniofacial disorders caused by spliceosomal defects.
@en
P2093
P2860
P50
P356
P1433
P1476
A review of craniofacial disorders caused by spliceosomal defects.
@en
P2093
D Wieczorek
M R Passos-Bueno
R M Zechi-Ceide
P2860
P304
P356
10.1111/CGE.12596
P577
2015-04-11T00:00:00Z