126 related articles for article (PubMed ID: 34613626)
1. Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation.
Wright A; Hall A; Daly T; Fontelonga T; Potter S; Schafer C; Lindsley A; Hung C; Bodamer O; Gussoni E
FASEB J; 2021 Nov; 35(11):e21955. PubMed ID: 34613626
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR; Cocciadiferro D; Augello B; Alfieri P; Pes V; Vancini A; Caciolo C; Squeo GM; Malerba N; Adipietro I; Novelli A; Sotgiu S; Gherardi R; Digilio MC; Dallapiccola B; Merla G
Int J Mol Sci; 2017 Dec; 19(1):. PubMed ID: 29283410
[TBL] [Abstract][Full Text] [Related]
5. KMT2D regulates activation, localization, and integrin expression by T-cells.
Potter SJ; Zhang L; Kotliar M; Wu Y; Schafer C; Stefan K; Boukas L; Qu'd D; Bodamer O; Simpson BN; Barski A; Lindsley AW; Bjornsson HT
Front Immunol; 2024; 15():1341745. PubMed ID: 38765012
[TBL] [Abstract][Full Text] [Related]
6. Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D; Augello B; De Nittis P; Zhang J; Mandriani B; Malerba N; Squeo GM; Romano A; Piccinni B; Verri T; Micale L; Pasqualucci L; Merla G
Hum Mol Genet; 2018 Nov; 27(21):3651-3668. PubMed ID: 30107592
[TBL] [Abstract][Full Text] [Related]
7. A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia.
Tamura S; Kosako H; Furuya Y; Yamashita Y; Mushino T; Mishima H; Kinoshita A; Nishikawa A; Yoshiura KI; Sonoki T
Acta Haematol; 2022; 145(1):89-96. PubMed ID: 34515044
[TBL] [Abstract][Full Text] [Related]
8. Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.
Serrano MLA; Demarest BL; Tone-Pah-Hote T; Tristani-Firouzi M; Yost HJ
PLoS Biol; 2019 Sep; 17(9):e3000087. PubMed ID: 31479440
[TBL] [Abstract][Full Text] [Related]
9. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
Stadelmaier RT; Kenna MA; Barrett D; Mullen TE; Bodamer O; Agrawal PB; Robson CD; Wojcik MH
Am J Med Genet A; 2021 Dec; 185(12):3770-3783. PubMed ID: 34369642
[TBL] [Abstract][Full Text] [Related]
10. Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
Bianchi C; Margot H; Fernandes H; Pasquet M; Priqueler L; Roy-Peaud F; Bauduer F; Bayart S; Garnier N; Fain O; Van Gils J; Joly SB; Rialland F; Paillard C; Deparis M; Lambilliotte A; Leblanc T; Fahd M; Leverger G; Héritier S; Geneviève D; Rieux-Laucat F; Picard C; Neyraud C; Aladjidi N
Br J Haematol; 2024 May; 204(5):1899-1907. PubMed ID: 38432067
[TBL] [Abstract][Full Text] [Related]
11. KMT2C/D COMPASS complex-associated diseases [K
Lavery WJ; Barski A; Wiley S; Schorry EK; Lindsley AW
Clin Epigenetics; 2020 Jan; 12(1):10. PubMed ID: 31924266
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S; Szymańska K; Śmigiel R; Szczałuba K
Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33805950
[TBL] [Abstract][Full Text] [Related]
14. Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
Jung YL; Hung C; Choi J; Lee EA; Bodamer O
Hum Mol Genet; 2023 Jun; 32(13):2251-2261. PubMed ID: 37043208
[TBL] [Abstract][Full Text] [Related]
15. [Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].
Fan H; Wang Y; Wu Y; Jia L; Wang L; Shen Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):546-550. PubMed ID: 38684298
[TBL] [Abstract][Full Text] [Related]
16. Neonatal Kabuki syndrome caused by KMT2D mutation: A case report.
Li Z; Ning Z
Medicine (Baltimore); 2023 Dec; 102(50):e36681. PubMed ID: 38115267
[TBL] [Abstract][Full Text] [Related]
17. Near complete deletion of KMT2D in a college student.
Gooch C; Souder JP; Tedder ML; Kerkhof J; Lee JA; Louie RJ; Sadikovic B; Fletcher RS; Robin NH
Am J Med Genet A; 2022 May; 188(5):1550-1555. PubMed ID: 35040536
[TBL] [Abstract][Full Text] [Related]
18. Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis.
Kawai T; Iwasaki Y; Ogata-Kawata H; Kamura H; Nakamura K; Hata K; Takano T; Nakabayashi K
Eur J Med Genet; 2023 Aug; 66(8):104806. PubMed ID: 37379880
[TBL] [Abstract][Full Text] [Related]
19. Sleep disturbance is a common feature of Kabuki syndrome.
Rapp T; Kalinousky AJ; Johnson J; Bjornsson H; Harris J
Am J Med Genet A; 2022 Oct; 188(10):3041-3048. PubMed ID: 35930004
[TBL] [Abstract][Full Text] [Related]
20. Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).
Jefri M; Zhang X; Stumpf PS; Zhang L; Peng H; Hettige N; Theroux JF; Aouabed Z; Wilson K; Deshmukh S; Antonyan L; Ni A; Alsuwaidi S; Zhang Y; Jabado N; Garcia BA; Schuppert A; Bjornsson HT; Ernst C
Hum Mol Genet; 2022 Oct; 31(21):3715-3728. PubMed ID: 35640156
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]