Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresEvolutionary Limitation and Opportunities for Developing tRNA Synthetase Inhibitors with 5-Binding-Mode ClassificationEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseUsing familial information for variant filtering in high-throughput sequencing studiesWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesMutations in RARS cause hypomyelinationThe Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.The crystal structure of human GlnRS provides basis for the development of neurological disorders.Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutationNovel lnc RNA regulated by HIF-1 inhibits apoptotic cell death in the renal tubular epithelial cells under hypoxia.Transfer RNA and human diseaseIdentification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorderLoss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectA single epidermal stem cell strategy for safe ex vivo gene therapy.A novel AARS mutation in a family with dominant myeloneuropathy.A protocol for the identification and validation of novel genetic causes of kidney diseaseAltered PLP1 splicing causes hypomyelination of early myelinating structures.Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.Differential gene network analysis for the identification of asthma-associated therapeutic targets in allergen-specific T-helper memory responses.Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Association of DARS gene polymorphisms with the risk of isolated ventricular septal defects in the Chinese Han population.Whole exome sequencing in patients with white matter abnormalities.Longitudinally extensive myelopathy in children.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.Human Lineage-Specific Transcriptional Regulation through GA-Binding Protein Transcription Factor Alpha (GABPa).Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Genetic Leukoencephalopathies in Adults.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.EigenGWAS: finding loci under selection through genome-wide association studies of eigenvectors in structured populationsLeukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.Participant-driven matchmaking in the genomic era.Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.
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P2860
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@ast
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@en
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@nl
type
label
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@ast
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@en
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@nl
prefLabel
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@ast
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@en
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@nl
P2093
P2860
P50
P1476
Mutations in DARS cause hypomy ...... nvolvement and leg spasticity.
@en
P2093
David Miller
Irenaeus F M de Coo
Ishwar C Verma
Johanna Schmidt
Julian Raiman
Marianna R Bevova
Marjo S van der Knaap
Petra J W Pouwels
P2860
P304
P356
10.1016/J.AJHG.2013.04.006
P407
P50
P577
2013-05-01T00:00:00Z