Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
about
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasiaEvolutionary comparison provides evidence for pathogenicity of RMRP mutations.The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaHuman RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunitsThe human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNAType and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumDiverse diseases from a ubiquitous process: the ribosomopathy paradoxConserved regions of ribonucleoprotein ribonuclease MRP are involved in interactions with its substrateGlobal identification of new substrates for the yeast endoribonuclease, RNase mitochondrial RNA processing (MRP)RNase MRP RNA and human genetic diseasesHomozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabilityRNase MRP and diseaseLinking genes to diseases: it's all in the data.Ribonuclease P: the evolution of an ancient RNA enzyme.Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disordersComparison of mitochondrial and nucleolar RNase MRP reveals identical RNA components with distinct enzymatic activities and protein componentsRibosomopathies: human disorders of ribosome dysfunction.Of proteins and RNA: the RNase P/MRP family.Functional characterization of the Drosophila MRP (mitochondrial RNA processing) RNA geneGAMETOPHYTE DEFECTIVE 1, a putative subunit of RNases P/MRP, is essential for female gametogenesis and male competence in Arabidopsis.When ribosomes go bad: diseases of ribosome biogenesis.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Interactions of a Pop5/Rpp1 heterodimer with the catalytic domain of RNase MRP.RNase MRP cleaves pre-tRNASer-Met in the tRNA maturation pathway.BLM helicase facilitates RNA polymerase I-mediated ribosomal RNA transcription.Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.Alterations in the ribosomal machinery in cancer and hematologic disorders.Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.Computational approaches to disease-gene prediction: rationale, classification and successes.Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.Pathogenic variants in non-protein-coding sequences.Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.Modern management of phagocyte defects.Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.Heterodimerization regulates RNase MRP/RNase P association, localization, and expression of Rpp20 and Rpp25.Role of RNase MRP in viral RNA degradation and RNA recombination.RNA-based affinity purification reveals 7SK RNPs with distinct composition and regulation.RNase MRP is required for entry of 35S precursor rRNA into the canonical processing pathway.Axial correction of the lower limb deformities in a girl with anauxetic dysplasia.
P2860
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P2860
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Severely incapacitating mutati ...... ssential cell growth regulator
@nl
Severely incapacitating mutati ...... sential cell growth regulator.
@ast
Severely incapacitating mutati ...... sential cell growth regulator.
@en
type
label
Severely incapacitating mutati ...... ssential cell growth regulator
@nl
Severely incapacitating mutati ...... sential cell growth regulator.
@ast
Severely incapacitating mutati ...... sential cell growth regulator.
@en
prefLabel
Severely incapacitating mutati ...... ssential cell growth regulator
@nl
Severely incapacitating mutati ...... sential cell growth regulator.
@ast
Severely incapacitating mutati ...... sential cell growth regulator.
@en
P2093
P2860
P50
P356
P1476
Severely incapacitating mutati ...... sential cell growth regulator.
@en
P2093
Bernhard Zabel
Denise Horn
Dietmar Müller
Erich Gebhart
Franz Rüschendorf
Jürgen Spranger
Kelly Salinas
Mark E Schmitt
P2860
P304
P356
10.1086/497708
P407
P50
P577
2005-09-29T00:00:00Z