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Items: 1 to 20 of 173

1.
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology
Veronika Vaclavik, Aurelie Navarro, Alain Jacot-Guillarmod, Armand Bottani, Young Joo Sun, Joel A. Franco, Vinit B. Mahajan, Vasily Smirnov, Isabelle Bouvet-Drumare
Graefes Arch Clin Exp Ophthalmol. 2024; 262(6): 1737–1744. Published online 2024 Jan 11. doi: 10.1007/s00417-023-06345-1
PMCID:
PMC11105987
AbstractArticlePDF–6.5M
2.
Molecular insights of KMT2D and clinical aspects of Kabuki Syndrome Type 1
Carly S. Golden, Saylor Williams, Maria A. Serrano
Birth Defects Res. Author manuscript; available in PMC 2024 Feb 6.
Published in final edited form as: Birth Defects Res. 2023 Nov 15; 115(19): 1809–1824. Published online 2023 May 9. doi: 10.1002/bdr2.2183
PMCID:
PMC10845236
AbstractArticlePDF–911K
3.
Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D‐related Kabuki syndrome
Zhoushu Zheng, Lu Ding, Meihong Wang, Yinghui Zhang, Yihui Yang, Ming Tang, Jun Xu, Liangjiong Wang, Junhua Wu, Haibo Li
Mol Genet Genomic Med. 2024 Jan; 12(1): e2306. Published online 2023 Nov 3. doi: 10.1002/mgg3.2306
PMCID:
PMC10767598
AbstractArticlePDF–1.3M
4.
Mutational Landscape of Bladder Cancer in Mexican Patients: KMT2D Mutations and chr11q15.5 Amplifications Are Associated with Muscle Invasion
María D. Pérez-Montiel, Dennis Cerrato-Izaguirre, Yesennia Sánchez-Pérez, Jose Diaz-Chavez, Carlo César Cortés-González, Jairo A. Rubio, Miguel A. Jiménez-Ríos, Luis A. Herrera, Anna Scavuzzo, Abelardo Meneses-García, Ricardo Hernández-Martínez, Felipe Vaca-Paniagua, Andrea Ramírez, Alicia Orozco, David Cantú-de-León, Diddier Prada
Int J Mol Sci. 2023 Jan; 24(2): 1092. Published online 2023 Jan 6. doi: 10.3390/ijms24021092
PMCID:
PMC9866210
AbstractArticlePDF–2.0M
5.
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder
Rachel T. Stadelmaier, Margaret A. Kenna, Devon Barrett, Thomas E. Mullen, Olaf Bodamer, Pankaj B. Agrawal, Caroline D. Robson, Monica H. Wojcik
Am J Med Genet A. Author manuscript; available in PMC 2022 Dec 1.
Published in final edited form as: Am J Med Genet A. 2021 Dec; 185(12): 3770–3783. Published online 2021 Aug 9. doi: 10.1002/ajmg.a.62450
PMCID:
PMC8595668
AbstractArticlePDF–1.3M
6.
KMT2D promotes proliferation of gastric cancer cells: evidence from ctDNA sequencing
Qiaolian Li, Riping Wu, Fan Wu, Qiang Chen
J Clin Lab Anal. 2021 Apr; 35(4): e23721. Published online 2021 Apr 1. doi: 10.1002/jcla.23721
PMCID:
PMC8059714
AbstractArticlePDF–1.1M
7.
Low MLL2 Protein Expression Is Associated With Fibrosis in Early Stage Gastric Cancer
SATOE NUMAKURA, HIROSHI UOZAKI
In Vivo. 2021 Jan-Feb; 35(1): 603–609. Published online 2021 Jan 3. doi: 10.21873/invivo.12297
PMCID:
PMC7880768
AbstractArticlePDF–6.6M
8.
MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki Syndrome
Alessandra Fasciani, Sarah D’Annunzio, Vittoria Poli, Luca Fagnocchi, Sven Beyes, Daniela Michelatti, Francesco Corazza, Laura Antonelli, Francesco Gregoretti, Gennaro Oliva, Romina Belli, Daniele Peroni, Enrico Domenici, Samuel Zambrano, Daniela Intartaglia, Carmine Settembre, Ivan Conte, Claudia Testi, Panagiotis Vergyris, Giancarlo Ruocco, Alessio Zippo
Nat Genet. Author manuscript; available in PMC 2021 Mar 25.
Published in final edited form as: Nat Genet. 2020 Dec 1; 52(12): 1397–1411. Published online 2020 Nov 9. doi: 10.1038/s41588-020-00724-8
PMCID:
PMC7610431
AbstractArticlePDF–6.9M
9.
Merkel Cell Polyomavirus in Merkel Cell Carcinoma: Integration Sites and Involvement of the KMT2D Tumor Suppressor Gene
Reety Arora, Jae Eun Choi, Paul W. Harms, Pratik Chandrani
Viruses. 2020 Sep; 12(9): 966. Published online 2020 Aug 31. doi: 10.3390/v12090966
PMCID:
PMC7552051
AbstractArticlePDF–1.2M
10.
Phenotypic Expansion of KMT2D-Related Disorder: Beyond Kabuki Syndrome
Dustin Baldridge, Rebecca C. Spillmann, Daniel J. Wegner, Jennifer A. Wambach, Frances V. White, Kathleen Sisco, Tomi L. Toler, Patricia I. Dickson, F. Sessions Cole, Vandana Shashi, Dorothy K. Grange
Am J Med Genet A. Author manuscript; available in PMC 2021 May 1.
Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1053–1065. Published online 2020 Feb 21. doi: 10.1002/ajmg.a.61518
PMCID:
PMC7295006
AbstractArticlePDF–952K
11.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al-Gazali, Natalie Canham, Victor Faundes, Frances Flinter, Jozef Hertecant, Muriel Holder-Espinasse, Brian Jackson, Sally Ann Lynch, Fatima Nadat, Vagheesh M. Narasimhan, Michelle Peckham, Robert Sellers, Marco Seri, Francesca Montanari, Laura Southgate, Gabriella Maria Squeo, Richard Trembath, David van Heel, Santina Venuto, Daniel Weisberg, Karen Stals, Sian Ellard, Genomics England Research Consortium, Anne Barton, Susan J. Kimber, Eamonn Sheridan, Giuseppe Merla, Adam Stevens, Colin A. Johnson, Siddharth Banka
Genet Med. 2020; 22(5): 867–877. Published online 2020 Jan 17. doi: 10.1038/s41436-019-0743-3
Correction in:
Genet Med. 2020; 22(5): 980.
PMCID:
PMC7200597
AbstractArticlePDF–1.5M
12.
Loss of KMT2D induces prostate cancer ROS-mediated DNA damage by suppressing the enhancer activity and DNA binding of antioxidant transcription factor FOXO3
Shidong Lv, Haoran Wen, Xiongwei Shan, Jianhua Li, Yaobin Wu, Xinpei Yu, Wenhua Huang, Qiang Wei
Epigenetics. 2019; 14(12): 1194–1208. Published online 2019 Jun 28. doi: 10.1080/15592294.2019.1634985
Correction in:
Epigenetics. 2021; 16(12): 1398–1401.
PMCID:
PMC6791696
AbstractArticlePDF–6.7M
13.
Genetic mutational status of genes regulating epigenetics: Role of the histone methyltransferase KMT2D in triple negative breast tumors
Sara Morcillo-Garcia, Maria del Mar Noblejas-Lopez, Cristina Nieto-Jimenez, Javier Perez-Peña, Miriam Nuncia-Cantarero, Balázs Győrffy, Eitan Amir, Atanasio Pandiella, Eva M. Galan-Moya, Alberto Ocana
PLoS One. 2019; 14(4): e0209134. Published online 2019 Apr 16. doi: 10.1371/journal.pone.0209134
PMCID:
PMC6467442
AbstractArticlePDF–2.3M
14.
Analysis of the role of mutations in the KMT2D histone lysine methyltransferase in bladder cancer
Beichen Ding, Libin Yan, Yucong Zhang, Zhize Wang, Yangjun Zhang, Ding Xia, Zhangqun Ye, Hua Xu
FEBS Open Bio. 2019 Apr; 9(4): 693–706. Published online 2019 Feb 21. doi: 10.1002/2211-5463.12600
PMCID:
PMC6443872
AbstractArticlePDF–1.6M
15.
Histone methyltransferase KMT2D sustains prostate carcinogenesis and metastasis via epigenetically activating LIFR and KLF4
Shidong Lv, Liyan Ji, Bin Chen, Shuqiang Liu, Chengyong Lei, Xi Liu, Xiaoxiao Qi, Ying Wang, Elaine Lai-Han Leung, Hongyi Wang, Lin Zhang, Xiaoming Yu, Zhongqiu Liu, Qiang Wei, Linlin Lu
Oncogene. 2018; 37(10): 1354–1368. Published online 2017 Dec 22. doi: 10.1038/s41388-017-0026-x
PMCID:
PMC6168472
AbstractArticlePDF–6.2M
16.
KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary
R. Tyler Hillman, Joseph Celestino, Christopher Terranova, Hannah C. Beird, Curtis Gumbs, Latasha Little, Tri Nguyen, Rebecca Thornton, Samantha Tippen, Jianhua Zhang, Karen H. Lu, David M. Gershenson, Kunal Rai, Russell R. Broaddus, P. Andrew Futreal
Nat Commun. 2018; 9: 2496. Published online 2018 Jun 27. doi: 10.1038/s41467-018-04950-x
PMCID:
PMC6021426
AbstractArticlePDF–748K
17.
A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report
Jung-Eun Moon, Su-Jeong Lee, Cheol Woo Ko
BMC Med Genet. 2018; 19: 102. Published online 2018 Jun 18. doi: 10.1186/s12881-018-0606-9
PMCID:
PMC6007063
AbstractArticlePDF–466K
18.
Histone modifier gene mutations in peripheral T-cell lymphoma not otherwise specified
Meng-Meng Ji, Yao-Hui Huang, Jin-Yan Huang, Zhao-Fu Wang, Di Fu, Han Liu, Feng Liu, Christophe Leboeuf, Li Wang, Jing Ye, Yi-Ming Lu, Anne Janin, Shu Cheng, Wei-Li Zhao
Haematologica. 2018 Apr; 103(4): 679–687. Prepublished online 2018 Jan 5. doi: 10.3324/haematol.2017.182444
PMCID:
PMC5865443
AbstractArticlePDF–2.5M
19.
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
Francesca Romana Lepri, Dario Cocciadiferro, Bartolomeo Augello, Paolo Alfieri, Valentina Pes, Alessandra Vancini, Cristina Caciolo, Gabriella Maria Squeo, Natascia Malerba, Iolanda Adipietro, Antonio Novelli, Stefano Sotgiu, Renzo Gherardi, Maria Cristina Digilio, Bruno Dallapiccola, Giuseppe Merla
Int J Mol Sci. 2018 Jan; 19(1): 82. Published online 2017 Dec 28. doi: 10.3390/ijms19010082
PMCID:
PMC5796032
AbstractArticlePDF–1.9M
20.
Emerging role of mutations in epigenetic regulators including MLL2 derived from The Cancer Genome Atlas for cervical cancer
Xia Li
BMC Cancer. 2017; 17: 252. Published online 2017 Apr 8. doi: 10.1186/s12885-017-3257-x
PMCID:
PMC5385072
AbstractArticlePDF–937K

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