Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsClassification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaHuman CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionMutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndromeMutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseA brief review of recent Charcot-Marie-Tooth research and prioritiesLoss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.Crystal structures of Entamoeba histolytica lysyl-tRNA synthetase reveal conformational changes upon lysine binding and a specific helix bundle domainHomozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabilityMutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disabilityAxonal neuropathy with neuromyotonia: there is a HINT.Unique ability of pandemic influenza to downregulate the genes involved in neuronal disorders.Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89Double-sieving-defective aminoacyl-tRNA synthetase causes protein mistranslation and affects cellular physiology and developmentThe crystal structure of human GlnRS provides basis for the development of neurological disorders.High-accuracy haplotype imputation using unphased genotype data as the referencesCompound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.Transfer RNA and human diseaseCMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in TaiwanTranslating personalized medicine using new genetic technologies in clinical practice: the ethical issuesMutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathyImpaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutationsSynaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d.An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.Whole-genome haplotyping approaches and genomic medicine.Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndromeEvolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)A novel AARS mutation in a family with dominant myeloneuropathy.Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.Detecting false-positive signals in exome sequencingTwo Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathyVariations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing LossMolecular genetics of charcot-marie-tooth disease: from genes to genomes.
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P2860
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@ast
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@en
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@nl
type
label
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@ast
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@en
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@nl
prefLabel
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@ast
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@en
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@nl
P2093
P2860
P50
P1476
Compound heterozygosity for lo ...... nt with peripheral neuropathy.
@en
P2093
Cuiping Liu
Garth Nicholson
Heather M McLaughlin
James R Lupski
Kinga Szigeti
Kristine Chu
Nancy F Hansen
Pedro Cruz
Praveen F Cherukuri
P2860
P304
P356
10.1016/J.AJHG.2010.09.008
P407
P50
P577
2010-10-01T00:00:00Z