BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 38702196)

  • 1. Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice.
    Boukas L; Luperchio TR; Razi A; Hansen KD; Bjornsson HT
    Genome Res; 2024 Jun; 34(5):696-710. PubMed ID: 38702196
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice.
    Boukas L; Luperchio TR; Razi A; Hansen KD; Bjornsson HT
    bioRxiv; 2023 Aug; ():. PubMed ID: 37577516
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation.
    Luperchio TR; Boukas L; Zhang L; Pilarowski G; Jiang J; Kalinousky A; Hansen KD; Bjornsson HT
    Elife; 2021 Aug; 10():. PubMed ID: 34463256
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Epigenetics, autism spectrum, and neurodevelopmental disorders.
    Rangasamy S; D'Mello SR; Narayanan V
    Neurotherapeutics; 2013 Oct; 10(4):742-56. PubMed ID: 24104594
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.
    Carosso GA; Boukas L; Augustin JJ; Nguyen HN; Winer BL; Cannon GH; Robertson JD; Zhang L; Hansen KD; Goff LA; Bjornsson HT
    JCI Insight; 2019 Oct; 4(20):. PubMed ID: 31465303
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
    Wang YR; Xu NX; Wang J; Wang XM
    World J Pediatr; 2019 Dec; 15(6):528-535. PubMed ID: 31587141
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice.
    Fahrner JA; Lin WY; Riddle RC; Boukas L; DeLeon VB; Chopra S; Lad SE; Luperchio TR; Hansen KD; Bjornsson HT
    JCI Insight; 2019 Oct; 4(20):. PubMed ID: 31557133
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.
    Benjamin JS; Pilarowski GO; Carosso GA; Zhang L; Huso DL; Goff LA; Vernon HJ; Hansen KD; Bjornsson HT
    Proc Natl Acad Sci U S A; 2017 Jan; 114(1):125-130. PubMed ID: 27999180
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
    Butcher DT; Cytrynbaum C; Turinsky AL; Siu MT; Inbar-Feigenberg M; Mendoza-Londono R; Chitayat D; Walker S; Machado J; Caluseriu O; Dupuis L; Grafodatskaya D; Reardon W; Gilbert-Dussardier B; Verloes A; Bilan F; Milunsky JM; Basran R; Papsin B; Stockley TL; Scherer SW; Choufani S; Brudno M; Weksberg R
    Am J Hum Genet; 2017 May; 100(5):773-788. PubMed ID: 28475860
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
    Aref-Eshghi E; Schenkel LC; Lin H; Skinner C; Ainsworth P; Paré G; Rodenhiser D; Schwartz C; Sadikovic B
    Epigenetics; 2017; 12(11):923-933. PubMed ID: 28933623
    [TBL] [Abstract][Full Text] [Related]  

  • 11. MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome.
    Fasciani A; D'Annunzio S; Poli V; Fagnocchi L; Beyes S; Michelatti D; Corazza F; Antonelli L; Gregoretti F; Oliva G; Belli R; Peroni D; Domenici E; Zambrano S; Intartaglia D; Settembre C; Conte I; Testi C; Vergyris P; Ruocco G; Zippo A
    Nat Genet; 2020 Dec; 52(12):1397-1411. PubMed ID: 33169020
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
    Jeffries AR; Maroofian R; Salter CG; Chioza BA; Cross HE; Patton MA; Dempster E; Temple IK; Mackay DJG; Rezwan FI; Aksglaede L; Baralle D; Dabir T; Hunter MF; Kamath A; Kumar A; Newbury-Ecob R; Selicorni A; Springer A; Van Maldergem L; Varghese V; Yachelevich N; Tatton-Brown K; Mill J; Crosby AH; Baple EL
    Genome Res; 2019 Jul; 29(7):1057-1066. PubMed ID: 31160375
    [TBL] [Abstract][Full Text] [Related]  

  • 13. CHARGE and Kabuki syndromes: a phenotypic and molecular link.
    Schulz Y; Freese L; Mänz J; Zoll B; Völter C; Brockmann K; Bögershausen N; Becker J; Wollnik B; Pauli S
    Hum Mol Genet; 2014 Aug; 23(16):4396-405. PubMed ID: 24705355
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
    Aref-Eshghi E; Bourque DK; Kerkhof J; Carere DA; Ainsworth P; Sadikovic B; Armour CM; Lin H
    Hum Mutat; 2019 Oct; 40(10):1684-1689. PubMed ID: 31268616
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.
    Lintas C; Persico AM
    Clin Genet; 2018 Oct; 94(3-4):283-295. PubMed ID: 28139835
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Comparison of methylation episignatures in
    Lee S; Ochoa E; Barwick K; Cif L; Rodger F; Docquier F; Pérez-Dueñas B; Clark G; Martin E; Banka S; Kurian MA; Maher ER
    Epigenomics; 2022 May; 14(9):537-547. PubMed ID: 35506254
    [TBL] [Abstract][Full Text] [Related]  

  • 17. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
    Bögershausen N; Tsai IC; Pohl E; Kiper PÖ; Beleggia F; Percin EF; Keupp K; Matchan A; Milz E; Alanay Y; Kayserili H; Liu Y; Banka S; Kranz A; Zenker M; Wieczorek D; Elcioglu N; Prontera P; Lyonnet S; Meitinger T; Stewart AF; Donnai D; Strom TM; Boduroglu K; Yigit G; Li Y; Katsanis N; Wollnik B
    J Clin Invest; 2015 Sep; 125(9):3585-99. PubMed ID: 26280580
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration.
    Schwenty-Lara J; Nehl D; Borchers A
    Hum Mol Genet; 2020 Jan; 29(2):305-319. PubMed ID: 31813957
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome.
    Tsang E; Han VX; Flutter C; Alshammery S; Keating BA; Williams T; Gloss BS; Graham ME; Aryamanesh N; Pang I; Wong M; Winlaw D; Cardamone M; Mohammad S; Gold W; Patel S; Dale RC
    EBioMedicine; 2024 Jun; 104():105156. PubMed ID: 38768529
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
    Hannibal MC; Buckingham KJ; Ng SB; Ming JE; Beck AE; McMillin MJ; Gildersleeve HI; Bigham AW; Tabor HK; Mefford HC; Cook J; Yoshiura K; Matsumoto T; Matsumoto N; Miyake N; Tonoki H; Naritomi K; Kaname T; Nagai T; Ohashi H; Kurosawa K; Hou JW; Ohta T; Liang D; Sudo A; Morris CA; Banka S; Black GC; Clayton-Smith J; Nickerson DA; Zackai EH; Shaikh TH; Donnai D; Niikawa N; Shendure J; Bamshad MJ
    Am J Med Genet A; 2011 Jul; 155A(7):1511-6. PubMed ID: 21671394
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.