Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
about
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineWhole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvementThe human N-alpha-acetyltransferase 40 (hNaa40p/hNatD) is conserved from yeast and N-terminally acetylates histones H2A and H4XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingN-Terminal Acetylation-Targeted N-End Rule Proteolytic System: The Ac/N-End Rule PathwayN-terminal modifications of cellular proteins: The enzymes involved, their substrate specificities and biological effectsA public resource facilitating clinical use of genomesThe DAF-16 FOXO transcription factor regulates natc-1 to modulate stress resistance in Caenorhabditis elegans, linking insulin/IGF-1 signaling to protein N-terminal acetylationProtein N-terminal acetyltransferases act as N-terminal propionyltransferases in vitro and in vivo.Loss of amino-terminal acetylation suppresses a prion phenotype by modulating global protein foldingDe novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and femalesBiochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defectsComparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-α-acetylation featuresA Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutantA splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndromeIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressNew links between protein N-terminal acetylation, dauer diapause, and the insulin/IGF-1 signaling pathway in Caenorhabditis elegansCrystal Structure of the Golgi-Associated Human Nα-Acetyltransferase 60 Reveals the Molecular Determinants for Substrate-Specific AcetylationThe biological functions of Naa10 - From amino-terminal acetylation to human diseaseA program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3Human Naa50 Protein Displays Broad Substrate Specificity for Amino-terminal Acetylation: DETAILED STRUCTURAL AND BIOCHEMICAL ANALYSIS USING TETRAPEPTIDE LIBRARY.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicinePrioritizing genes for X-linked diseases using population exome data.Reducing INDEL calling errors in whole genome and exome sequencing data.Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.Protein N-terminal acetyltransferases in cancer.Protein acetylation and spermatogenesis.A proposed clinical decision support architecture capable of supporting whole genome sequence information.The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information.New roles for old modifications: emerging roles of N-terminal post-translational modifications in development and disease.Clinical analysis of genome next-generation sequencing data using the Omicia platform.Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.Exome analysis of a family with pleiotropic congenital heart disease.Improving the Sequence Ontology terminology for genomic variant annotation.Downregulation of N-terminal acetylation triggers ABA-mediated drought responses in ArabidopsisRole of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.Clinical implications of human population differences in genome-wide rates of functional genotypesMolecular identification and functional characterization of the first Nα-acetyltransferase in plastids by global acetylome profiling.
P2860
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P2860
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
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2011年學術文章
@yue
name
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@ast
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@en
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@nl
type
label
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@ast
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@en
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@nl
prefLabel
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@ast
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@en
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@nl
P2093
P2860
P50
P3181
P1476
Using VAAST to identify an X-l ...... l acetyltransferase deficiency
@en
P2093
Alan F Rope
Barry Moore
Brian Dalley
Cathy A Stevens
Chad D Huff
Christa Schank
Gholson J Lyon
Heidi Deborah Fain
Jeffrey J Swensen
Jennifer J Johnston
P2860
P3181
P356
10.1016/J.AJHG.2011.05.017
P407
P577
2011-06-23T00:00:00Z