Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
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Primary immunodeficiencies associated with eosinophiliaThe Human Phenotype Ontology in 2017Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.Alternative exon definition events control the choice between nuclear retention and cytoplasmic export of U11/U12-65K mRNA.Lessons from non-canonical splicingMolecular alterations in skeletal muscle in rheumatoid arthritis are related to disease activity, physical inactivity, and disability.Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.Non-coding RNAs and disease: the classical ncRNAs make a comeback.Deep intronic mutations and human disease.Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.Variant snRNPs: New players within the spliceosome system.The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.IntEREst: intron-exon retention estimator.Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome
P2860
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P2860
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
description
2015 nî lūn-bûn
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2015年の論文
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name
Compound heterozygous mutation ...... rupting minor intron splicing.
@ast
Compound heterozygous mutation ...... rupting minor intron splicing.
@en
type
label
Compound heterozygous mutation ...... rupting minor intron splicing.
@ast
Compound heterozygous mutation ...... rupting minor intron splicing.
@en
prefLabel
Compound heterozygous mutation ...... rupting minor intron splicing.
@ast
Compound heterozygous mutation ...... rupting minor intron splicing.
@en
P2093
P2860
P50
P356
P1476
Compound heterozygous mutation ...... srupting minor intron splicing
@en
P2093
Alyson Kakakios
Andrea Bates
Benjamin J Blencowe
Bhooma Thiruvahindrapuram
Brenda Reid
Chaim M Roifman
Daniele Merico
David Manson
Jane Peake
Jo-Anne Herbrick
P2860
P2888
P356
10.1038/NCOMMS9718
P407
P577
2015-11-02T00:00:00Z