Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
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BMS1 is mutated in aplasia cutis congenitaEvolutionary comparison provides evidence for pathogenicity of RMRP mutations.The mammalian transcriptome and the function of non-coding DNA sequencesNon–coding RNA genes and the modern RNA worldThe impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaThe Shwachman-Diamond SBDS protein localizes to the nucleolusHuman 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 RNAAn RNA-dependent RNA polymerase formed by TERT and the RMRP RNAMutual interactions between subunits of the human RNase MRP ribonucleoprotein complexSeverely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.Phylogenetic analysis of the structure of RNase MRP RNA in yeastsNoncoding RNA gene detection using comparative sequence analysisBasic domains target protein subunits of the RNase MRP complex to the nucleolus independently of complex associationRNase MRP cleaves the CLB2 mRNA to promote cell cycle progression: novel method of mRNA degradationType and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumRNAdb--a comprehensive mammalian noncoding RNA databaseThe inherited bone marrow failure syndromesEukaryotic ribonucleases P/MRP: the crystal structure of the P3 domainDiverse diseases from a ubiquitous process: the ribosomopathy paradoxhPop5, a protein subunit of the human RNase MRP and RNase P endoribonucleases.Interactions between subunits of Saccharomyces cerevisiae RNase MRP support a conserved eukaryotic RNase P/MRP architecture.Conserved regions of ribonucleoprotein ribonuclease MRP are involved in interactions with its substrateSpecific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.Footprinting analysis of interactions between the largest eukaryotic RNase P/MRP protein Pop1 and RNase P/MRP RNA components.Global identification of new substrates for the yeast endoribonuclease, RNase mitochondrial RNA processing (MRP)Ribosomal proteins Rps0 and Rps21 of Saccharomyces cerevisiae have overlapping functions in the maturation of the 3' end of 18S rRNA.Both endonucleolytic and exonucleolytic cleavage mediate ITS1 removal during human ribosomal RNA processingA big development for a small RNARMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphismsA loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouseRNase MRP RNA and human genetic diseasesA Comparison of Gene Expression Profiles between Glucocorticoid Responder and Non-Responder Bovine Trabecular Meshwork Cells Using RNA SequencingHuman ribonuclease P: subunits, function, and intranuclear localizationRNAcentral: A vision for an international database of RNA sequencesRNase MRP and disease3' terminal diversity of MRP RNA and other human noncoding RNAs revealed by deep sequencing.Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processingDdx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
P2860
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P2860
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@ast
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@en
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@nl
type
label
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@ast
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@en
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@nl
prefLabel
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@ast
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@en
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@nl
P2093
P3181
P1433
P1476
Mutations in the RNA component ...... ase, cartilage-hair hypoplasia
@en
P2093
A de la Chapelle
H van Eenennaam
M Ridanpää
R Chadwick
P304
P3181
P356
10.1016/S0092-8674(01)00205-7
P407
P50
P577
2001-01-01T00:00:00Z