BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1046 related articles for article (PubMed ID: 29656860)

  • 1. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
    Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
    Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
    Cheng H; Gottlieb L; Marchi E; Kleyner R; Bhardwaj P; Rope AF; Rosenheck S; Moutton S; Philippe C; Eyaid W; Alkuraya FS; Toribio J; Mena R; Prada CE; Stessman H; Bernier R; Wermuth M; Kauffmann B; Blaumeiser B; Kooy RF; Baralle D; Mancini GMS; Conway SJ; Xia F; Chen Z; Meng L; Mihajlovic L; Marmorstein R; Lyon GJ
    Hum Mol Genet; 2019 Sep; 28(17):2900-2919. PubMed ID: 31127942
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
    Lyon GJ; Vedaie M; Beisheim T; Park A; Marchi E; Gottlieb L; Hsieh TC; Klinkhammer H; Sandomirsky K; Cheng H; Starr LJ; Preddy I; Tseng M; Li Q; Hu Y; Wang K; Carvalho A; Martinez F; Caro-Llopis A; Gavin M; Amble K; Krawitz P; Marmorstein R; Herr-Israel E
    Eur J Hum Genet; 2023 Jul; 31(7):824-833. PubMed ID: 37130971
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.
    Ree R; Geithus AS; Tørring PM; Sørensen KP; Damkjær M; ; Lynch SA; Arnesen T
    BMC Med Genet; 2019 Jun; 20(1):101. PubMed ID: 31174490
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
    Ritter A; Berger JH; Deardorff M; Izumi K; Lin KY; Medne L; Ahrens-Nicklas RC
    Am J Med Genet A; 2021 Jan; 185(1):228-233. PubMed ID: 33103328
    [TBL] [Abstract][Full Text] [Related]  

  • 6. NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
    McTiernan N; Støve SI; Aukrust I; Mårli MT; Myklebust LM; Houge G; Arnesen T
    BMC Med Genet; 2018 Mar; 19(1):47. PubMed ID: 29558889
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Investigating the functionality of a ribosome-binding mutant of NAA15 using Saccharomyces cerevisiae.
    Varland S; Arnesen T
    BMC Res Notes; 2018 Jun; 11(1):404. PubMed ID: 29929531
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
    Støve SI; Blenski M; Stray-Pedersen A; Wierenga KJ; Jhangiani SN; Akdemir ZC; Crawford D; McTiernan N; Myklebust LM; Purcarin G; McNall-Knapp R; Wadley A; Belmont JW; Kim JJ; Lupski JR; Arnesen T
    Eur J Hum Genet; 2018 Sep; 26(9):1294-1305. PubMed ID: 29748569
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    McTiernan N; Darbakk C; Ree R; Arnesen T
    Int J Mol Sci; 2020 Nov; 21(23):. PubMed ID: 33255974
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.
    Bader I; McTiernan N; Darbakk C; Boltshauser E; Ree R; Ebner S; Mayr JA; Arnesen T
    BMC Med Genet; 2020 Jul; 21(1):153. PubMed ID: 32698785
    [TBL] [Abstract][Full Text] [Related]  

  • 11. NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.
    McTiernan N; Gill H; Prada CE; Pachajoa H; Lores J; ; Arnesen T
    Eur J Hum Genet; 2021 Feb; 29(2):280-288. PubMed ID: 32973342
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant.
    Van Damme P; Støve SI; Glomnes N; Gevaert K; Arnesen T
    Mol Cell Proteomics; 2014 Aug; 13(8):2031-41. PubMed ID: 24408909
    [TBL] [Abstract][Full Text] [Related]  

  • 13. NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.
    Casey JP; Støve SI; McGorrian C; Galvin J; Blenski M; Dunne A; Ennis S; Brett F; King MD; Arnesen T; Lynch SA
    Sci Rep; 2015 Nov; 5():16022. PubMed ID: 26522270
    [TBL] [Abstract][Full Text] [Related]  

  • 14. NAA10-related syndrome.
    Wu Y; Lyon GJ
    Exp Mol Med; 2018 Jul; 50(7):1-10. PubMed ID: 30054457
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.
    Maini I; Caraffi SG; Peluso F; Valeri L; Nicoli D; Laurie S; Baldo C; Zuffardi O; Garavelli L
    Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34200686
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
    Saunier C; Støve SI; Popp B; Gérard B; Blenski M; AhMew N; de Bie C; Goldenberg P; Isidor B; Keren B; Leheup B; Lampert L; Mignot C; Tezcan K; Mancini GM; Nava C; Wasserstein M; Bruel AL; Thevenon J; Masurel A; Duffourd Y; Kuentz P; Huet F; Rivière JB; van Slegtenhorst M; Faivre L; Piton A; Reis A; Arnesen T; Thauvin-Robinet C; Zweier C
    Hum Mutat; 2016 Aug; 37(8):755-64. PubMed ID: 27094817
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
    Popp B; Støve SI; Endele S; Myklebust LM; Hoyer J; Sticht H; Azzarello-Burri S; Rauch A; Arnesen T; Reis A
    Eur J Hum Genet; 2015 May; 23(5):602-9. PubMed ID: 25099252
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
    McTiernan N; Tranebjærg L; Bjørheim AS; Hogue JS; Wilson WG; Schmidt B; Boerrigter MM; Nybo ML; Smeland MF; Tümer Z; Arnesen T
    Hum Genet; 2022 Aug; 141(8):1355-1369. PubMed ID: 35039925
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
    Zhao JJ; Halvardson J; Zander CS; Zaghlool A; Georgii-Hemming P; Månsson E; Brandberg G; Sävmarker HE; Frykholm C; Kuchinskaya E; Thuresson AC; Feuk L
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jan; 177(1):10-20. PubMed ID: 28990276
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
    Gogoll L; Steindl K; Joset P; Zweier M; Baumer A; Gerth-Kahlert C; Tutschek B; Rauch A
    Am J Med Genet A; 2021 Aug; 185(8):2546-2560. PubMed ID: 34075687
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 53.