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Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumRNase MRP RNA and human genetic diseasesRNase MRP and diseaseCongenic mice confirm that collagen X is required for proper hematopoietic development.Quality control of assembly-defective U1 snRNAs by decapping and 5'-to-3' exonucleolytic digestion.RMRP is a non-coding RNA essential for early murine development.Of proteins and RNA: the RNase P/MRP family.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Cartilage hair hypoplasia: characteristics and orthopaedic manifestationsHuR and GRSF1 modulate the nuclear export and mitochondrial localization of the lncRNA RMRP.Altered endochondral ossification in collagen X mouse models leads to impaired immune responsesSmall RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.LncRNA-RMRP promotes carcinogenesis by acting as a miR-206 sponge and is used as a novel biomarker for gastric cancer.Cartilage Hair Hypoplasia: First report from IranCartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.Mitochondrial dysfunction: a neglected component of skin diseases.Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.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.RMRP mutations in hematological disorders.Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
RMRP mutations in cartilage-hair hypoplasia.
@en
RMRP mutations in cartilage-hair hypoplasia.
@nl
type
label
RMRP mutations in cartilage-hair hypoplasia.
@en
RMRP mutations in cartilage-hair hypoplasia.
@nl
prefLabel
RMRP mutations in cartilage-hair hypoplasia.
@en
RMRP mutations in cartilage-hair hypoplasia.
@nl
P2093
P356
P1476
RMRP mutations in cartilage-hair hypoplasia.
@en
P2093
Alyssa Tran
Bernhard Zabel
Brendan Lee
Elda Munivez
Jules G Leroy
Pia Hermanns
Susan Carter
P304
P356
10.1002/AJMG.A.31331
P407
P577
2006-10-01T00:00:00Z