Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
about
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.Quality control of assembly-defective U1 snRNAs by decapping and 5'-to-3' exonucleolytic digestion.Primordial dwarfism: overview of clinical and genetic aspects.Statistically based splicing detection reveals neural enrichment and tissue-specific induction of circular RNA during human fetal developmentThe potential of the riboSNitch in personalized medicineRegulation of gene expression through inefficient splicing of U12-type intronsCompound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.The Arabidopsis homolog of human minor spliceosomal protein U11-48K plays a crucial role in U12 intron splicing and plant developmentMinor intron splicing is regulated by FUS and affected by ALS-associated FUS mutantsRNA mis-splicing in disease.Non-coding RNAs and disease: the classical ncRNAs make a comeback.Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.Deep intronic mutations and human disease.A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.Allele-specific SHAPE-MaP assessment of the effects of somatic variation and protein binding on mRNA structure.Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.Variant snRNPs: New players within the spliceosome system.Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.
P2860
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P2860
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
@ast
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
@en
type
label
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
@ast
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
@en
prefLabel
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
@ast
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
@en
P2093
P2860
P356
P1433
P1476
Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
@en
P2093
Faegheh Jafarifar
James M Hiznay
Richard A Padgett
Rosemary C Dietrich
P2860
P304
P356
10.1261/RNA.045187.114
P407
P577
2014-05-27T00:00:00Z