196 related articles for article (PubMed ID: 38765012)
1. 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]
2. Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome.
Pilarowski GO; Cazares T; Zhang L; Benjamin JS; Liu K; Jagannathan S; Mousa N; Kasten J; Barski A; Lindsley AW; Bjornsson HT
J Allergy Clin Immunol; 2020 Mar; 145(3):982-992. PubMed ID: 31816409
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
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. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
Lindsley AW; Saal HM; Burrow TA; Hopkin RJ; Shchelochkov O; Khandelwal P; Xie C; Bleesing J; Filipovich L; Risma K; Assa'ad AH; Roehrs PA; Bernstein JA
J Allergy Clin Immunol; 2016 Jan; 137(1):179-187.e10. PubMed ID: 26194542
[TBL] [Abstract][Full Text] [Related]
7. The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology.
Shpargel KB; Mangini CL; Xie G; Ge K; Magnuson T
Development; 2020 Jul; 147(21):. PubMed ID: 32541010
[TBL] [Abstract][Full Text] [Related]
8. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Yap CS; Jamuar SS; Lai AHM; Tan ES; Ng I; Ting TW; Tan EC
Gene; 2020 Mar; 731():144360. PubMed ID: 31935506
[TBL] [Abstract][Full Text] [Related]
9. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L; Augello B; Maffeo C; Selicorni A; Zucchetti F; Fusco C; De Nittis P; Pellico MT; Mandriani B; Fischetto R; Boccone L; Silengo M; Biamino E; Perria C; Sotgiu S; Serra G; Lapi E; Neri M; Ferlini A; Cavaliere ML; Chiurazzi P; Monica MD; Scarano G; Faravelli F; Ferrari P; Mazzanti L; Pilotta A; Patricelli MG; Bedeschi MF; Benedicenti F; Prontera P; Toschi B; Salviati L; Melis D; Di Battista E; Vancini A; Garavelli L; Zelante L; Merla G
Hum Mutat; 2014 Jul; 35(7):841-50. PubMed ID: 24633898
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of
Porntaveetus T; Abid MF; Theerapanon T; Srichomthong C; Ohazama A; Kawasaki K; Kawasaki M; Suphapeetiporn K; Sharpe PT; Shotelersuk V
Int J Biol Sci; 2018; 14(4):381-389. PubMed ID: 29725259
[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. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.
Lin JL; Lee WI; Huang JL; Chen PK; Chan KC; Lo LJ; You YJ; Shih YF; Tseng TY; Wu MC
Clin Genet; 2015 Sep; 88(3):255-60. PubMed ID: 25142838
[TBL] [Abstract][Full Text] [Related]
14. Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1.
Golden CS; Williams S; Serrano MA
Birth Defects Res; 2023 Nov; 115(19):1809-1824. PubMed ID: 37158694
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N; Brucato M; Zhang L; Ladd-Acosta C; Ongaco C; Romm J; Doheny KF; Mingroni-Netto RC; Bertola D; Kim CA; Perez AB; Melaragno MI; Valle D; Meloni VA; Bjornsson HT
Eur J Hum Genet; 2017 Dec; 25(12):1335-1344. PubMed ID: 29255178
[TBL] [Abstract][Full Text] [Related]
17. Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome.
Yamamoto PK; de Souza TA; Antiorio ATFB; Zanatto DA; Garcia-Gomes MSA; Alexandre-Ribeiro SR; Oliveira NS; Menck CFM; Bernardi MM; Massironi SMG; Mori CMC
Genes Brain Behav; 2019 Nov; 18(8):e12568. PubMed ID: 30891914
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Baldridge D; Spillmann RC; Wegner DJ; Wambach JA; White FV; Sisco K; Toler TL; Dickson PI; Cole FS; Shashi V; Grange DK
Am J Med Genet A; 2020 May; 182(5):1053-1065. PubMed ID: 32083401
[TBL] [Abstract][Full Text] [Related]
19. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Van Laarhoven PM; Neitzel LR; Quintana AM; Geiger EA; Zackai EH; Clouthier DE; Artinger KB; Ming JE; Shaikh TH
Hum Mol Genet; 2015 Aug; 24(15):4443-53. PubMed ID: 25972376
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]