A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseTranslational Regulation of the Mitochondrial Genome Following Redistribution of Mitochondrial MicroRNA in the Diabetic HeartEF-hand protein Ca2+ buffers regulate Ca2+ influx and exocytosis in sensory hair cellsLoss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.Functional genomic analysis of human mitochondrial RNA processing.Energizing Genetics and Epi-genetics: Role in the Regulation of Mitochondrial Function.Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.Mitochondrial transcript maturation and its disordersNew treatment options for hearing loss.Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Novel Role of the Mitochondrial Protein Fus1 in Protection from Premature Hearing Loss via Regulation of Oxidative Stress and Nutrient and Energy Sensing Pathways in the Inner Ear.Mammalian mitochondrial RNAs are degraded in the mitochondrial intermembrane space by RNASET2.A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.tRNAs and proteins use the same import channel for translocation across the mitochondrial outer membrane of trypanosomes.Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.
P2860
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P2860
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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name
A mutation in PNPT1, encoding ...... auses hereditary hearing loss.
@ast
A mutation in PNPT1, encoding ...... auses hereditary hearing loss.
@en
type
label
A mutation in PNPT1, encoding ...... auses hereditary hearing loss.
@ast
A mutation in PNPT1, encoding ...... auses hereditary hearing loss.
@en
prefLabel
A mutation in PNPT1, encoding ...... auses hereditary hearing loss.
@ast
A mutation in PNPT1, encoding ...... auses hereditary hearing loss.
@en
P2093
P2860
P50
P1476
A mutation in PNPT1, encoding ...... auses hereditary hearing loss.
@en
P2093
Abdelhamid Barakat
Alexander E Volk
Barbara Stiller
Bernd Wollnik
Carla M Koehler
Geoffrey M Smith
Guntram Borck
Guy P Richardson
Hans-Martin Pogoda
P2860
P304
P356
10.1016/J.AJHG.2012.09.002
P407
P50
P577
2012-10-18T00:00:00Z