Associated Papers
A novel experimental approach for the selective isolation and characterization of human RNase MRP.
Derksen M et al.
Rna Biology, 2022
Cryo-EM structure of catalytic ribonucleoprotein complex RNase MRP.
Perederina A et al.
Nature Communications, 2020
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.
Klemetti P et al.
Clinical Genetics, 2017
Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.
Steinbusch MMF et al.
Scientific Reports, 2017
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.
Crahes M et al.
European Journal of Medical Genetics, 2013
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
de la Fuente MA et al.
The Journal of Allergy and Clinical Immunology, 2011
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
Thiel CT et al.
American Journal of Human Genetics, 2007
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
Bonafé L et al.
Plos Genetics, 2005
The natural history of severe anemia in cartilage-hair hypoplasia.
Williams MS et al.
American Journal of Medical Genetics. Part A, 2005
Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
Ridanpää M et al.
European Journal of Human Genetics : Ejhg, 2002
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
Ridanpää M et al.
Cell, 2001
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