Abstract
RNase MRP RNA is the RNA subunit of the RNase mitochondrial RNA processing (MRP) enzyme complex that is involved in multiple cellular RNA processing events. Mutations on RNase MRP RNA gene (RMRP) cause a recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH). The relationship of the genotype (RMRP mutation), RNA processing deficiency of the RNase MRP complex, and the phenotype of CHH and other skeletal dysplasias is yet to be explored.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Base Sequence
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Cartilage Diseases / genetics
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Endoribonucleases / genetics
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Endoribonucleases / physiology*
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Genetic Diseases, Inborn / genetics*
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Hair Diseases / genetics
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Humans
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Models, Genetic
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Molecular Sequence Data
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Nucleic Acid Conformation
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RNA / metabolism
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RNA, Catalytic / genetics
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RNA, Catalytic / physiology*
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RNA, Mitochondrial
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Ribonuclease P / physiology
Substances
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RNA, Catalytic
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RNA, Mitochondrial
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RNA
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Endoribonucleases
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mitochondrial RNA-processing endoribonuclease
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Ribonuclease P