Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum
about
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasiaRibosomopathies: Global process, tissue specific defectsDiverse diseases from a ubiquitous process: the ribosomopathy paradoxRNase MRP and diseaseComparison of mitochondrial and nucleolar RNase MRP reveals identical RNA components with distinct enzymatic activities and protein componentsOf proteins and RNA: the RNase P/MRP family.Functional characterization of the Drosophila MRP (mitochondrial RNA processing) RNA geneWhen ribosomes go bad: diseases of ribosome biogenesis.Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.RNase MRP cleaves pre-tRNASer-Met in the tRNA maturation pathway.Cartilage hair hypoplasia: characteristics and orthopaedic manifestationsDetection of RNA-Protein Interactions in Living Cells with SHAPE.Dis3l2-Mediated Decay Is a Quality Control Pathway for Noncoding RNAsSmall RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.ZSCAN5B and primate-specific paralogs bind RNA polymerase III genes and extra-TFIIIC (ETC) sites to modulate mitotic progressionDo ribosomopathies explain some cases of common variable immunodeficiency?Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.Hypodontia, a prospective predictive marker for tumor?Non-coding RNAs and disease: the classical ncRNAs make a comeback.Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay.Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia
P2860
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P2860
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@ast
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@en
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@nl
type
label
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@ast
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@en
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@nl
prefLabel
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@ast
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@en
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@nl
P2860
P50
P356
P1476
Type and level of RMRP functio ...... a-anauxetic dysplasia spectrum
@en
P2093
Ilkka Kaitila
P2860
P304
P356
10.1086/521034
P407
P577
2007-09-01T00:00:00Z