
PMC . NCBI . NLM . NIH . GOV {
}
Title:
Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism - PMC
Description:
Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic heterogeneity. Two presumably unrelated consanguineous families presented with an apparently novel form of ...
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27 years and 8 months (reg. 1997-10-02).
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Keywords {π}
doi, pubmed, google, scholar, trna, pmc, article, free, trm, mutation, modification, genet, levels, growth, yeast, rna, human, modifications, data, wdr, mutations, trmΞ΄, trnavalaac, trmkl, trnaphe, primordial, dwarfism, fig, gene, genes, cerevisiae, table, cen, hum, analysis, patient, wdrrl, results, variant, syndrome, homozygous, variants, analyzed, reduced, patients, family, high, phizicky, revealed, temperature,
Topics {βοΈ}
cen leu2 ptrm82-trm82-k223l wdr4-r170l/wdr4-r170l trnaphe m7g brisk deep-tendon reflexes house ethnically-matched exomes pmc beta search s-adenosylmethionine-binding protein cen leu2 ptrm82-trm82 autosomal-recessive intellectual disability post-natal growth retardation yeast trm82-k223l mutants yeast trm82-k223l mutant rapid trna decay wdr4-r170l allele encodes syndromic mental retardation cerevisiae trm8-trm82 holoenzyme wdr4-r170l mutation results bulged alveolar ridge publisher site pdf wdr4-r170l missense mutation normal vaginal delivery revealed negative results coding/splicing homozygous variant license information pmcid prominent alveolar ridge splice site mutation trm82-k223l strain silico prediction tools young onset diabetes wild type strain amino-acid substitutions primordial dwarfism reveals proportionately short femora haplotype analysis revealed wdr4-r170l homozygote high arched palate atrβatrip seckel syndrome house saudi exomes post-transcriptional processing cerevisiae trm82-k223l wdr4-r170l allele impaired mitosis due trm82-k223l suppressed trm82-k223l mutant microcephalic primordial dwarfism transferring amino acids exome filtering scheme cen trm82-k223l wdr4-r170l proband [doi] [pubmed] 62 methyltransferase gene ftsj1
Questions {β}
- Do all modifications benefit all tRNAs?
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