Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
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Identification of genomic variants putatively targeted by selection during dog domesticationGlobal analysis of the nuclear processing of transcripts with unspliced U12-type introns by the exosome.Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.Regulation of gene expression through inefficient splicing of U12-type intronsCompound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Alternative exon definition events control the choice between nuclear retention and cytoplasmic export of U11/U12-65K mRNA.Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.The Arabidopsis homolog of human minor spliceosomal protein U11-48K plays a crucial role in U12 intron splicing and plant developmentStructural features important for the U12 snRNA binding and minor spliceosome assembly of Arabidopsis U11/U12-small nuclear ribonucleoproteins.Lessons from non-canonical splicingThe transcriptome of human oocytes is related to age and ovarian reserve.Evolutionarily conserved exon definition interactions with U11 snRNP mediate alternative splicing regulation on U11-48K and U11/U12-65K genes.Identification of genome-wide non-canonical spliced regions and analysis of biological functions for spliced sequences using Read-Split-Fly.Self-domestication in Homo sapiens: Insights from comparative genomics.Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.[Pre-mRNA splicing: when the spliceosome loses ground].Influence of growth hormone replacement on neurological and psychomotor development. Case report.IntEREst: intron-exon retention estimator.Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication.
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P2860
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on 30 January 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Defective minor spliceosome mR ...... ial growth hormone deficiency.
@en
Defective minor spliceosome mR ...... ial growth hormone deficiency.
@nl
type
label
Defective minor spliceosome mR ...... ial growth hormone deficiency.
@en
Defective minor spliceosome mR ...... ial growth hormone deficiency.
@nl
prefLabel
Defective minor spliceosome mR ...... ial growth hormone deficiency.
@en
Defective minor spliceosome mR ...... ial growth hormone deficiency.
@nl
P2093
P2860
P50
P356
P1476
Defective minor spliceosome mR ...... ial growth hormone deficiency.
@en
P2093
Ali Oghabian
Armand Gutiérrez-Arumí
Bhupendra Verma
Gabriel Á Martos-Moreno
Luis A Pérez-Jurado
Raquel Flores
P2860
P304
P356
10.1002/EMMM.201303573
P577
2014-01-30T00:00:00Z