Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
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Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.Landmarks in the Evolution of (t)-RNAs from the Origin of Life up to Their Present Role in Human CognitionTransfer RNA methytransferases and their corresponding modifications in budding yeast and humans: activities, predications, and potential roles in human healthEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseMethylated nucleosides in tRNA and tRNA methyltransferasesYeast Trm7 interacts with distinct proteins for critical modifications of the tRNAPhe anticodon loop.Modify or die?--RNA modification defects in metazoansA homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognitionDefects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1Conservation of an intricate circuit for crucial modifications of the tRNAPhe anticodon loop in eukaryotesDisruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disabilityThe genetic basis of non-syndromic intellectual disability: a reviewDeletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndromeFTSJ2, a heat shock-inducible mitochondrial protein, suppresses cell invasion and migration.The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri FamiliesA 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.Mutations in NSUN2 cause autosomal-recessive intellectual disability.Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfismX linked mental retardation: a clinical guide.Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Mapping and significance of the mRNA methylome.Two-subunit enzymes involved in eukaryotic post-transcriptional tRNA modification.Transfer RNA methyltransferases with a SpoU-TrmD (SPOUT) fold and their modified nucleosides in tRNA.X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts.ALKBH1 is an RNA dioxygenase responsible for cytoplasmic and mitochondrial tRNA modificationsMechanistic features of the atypical tRNA m1G9 SPOUT methyltransferase, Trm10.EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.Genetic variations in FTSJ1 influence cognitive ability in young males in the Chinese Han population.Deep sequencing reveals 50 novel genes for recessive cognitive disorders.The RNA modification landscape in human disease.Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders.Lack of 2'-O-methylation in the tRNA anticodon loop of two phylogenetically distant yeast species activates the general amino acid control pathway.X-linked mental retardationPhenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
P2860
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P2860
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
description
2004 nî lūn-bûn
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2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2004 թվականի մայիսին հրատարակված գիտական հոդված
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2004年の論文
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2004年学术文章
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2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
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2004年學術文章
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name
Mutations in the FTSJ1 gene co ...... ic X-linked mental retardation
@nl
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@ast
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@en
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@en-gb
type
label
Mutations in the FTSJ1 gene co ...... ic X-linked mental retardation
@nl
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@ast
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@en
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@en-gb
prefLabel
Mutations in the FTSJ1 gene co ...... ic X-linked mental retardation
@nl
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@ast
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@en
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@en-gb
P2093
P2860
P50
P356
P1476
Mutations in the FTSJ1 gene co ...... c X-linked mental retardation.
@en
P2093
Kirsten Hoffmann
Kristine Freude
Lars-Riff Jensen
Martin B Delatycki
Steffen Lenzner
Vincent des Portes
P2860
P304
P356
10.1086/422507
P407
P50
P577
2004-05-25T00:00:00Z