PubMed for id: 9757

Year	Number of Results
1993	2
1997	2
1999	2
2000	1
2002	1
2003	1
2004	4
2005	2
2006	5
2007	4
2008	6
2009	4
2010	3
2011	4
2012	6
2013	5
2014	3
2015	8
2016	9
2017	10
2018	11
2019	8
2020	9
2021	11
2022	13
2023	7
2024	4

1

Histone H4K16ac Binding Function of the Triple PHD Finger Cassette of MLL4.

Kumar Sinha V, Zhang Y, Xu L, Chen YW, Picaud S, Zandian M, Biswas S, Filippakopoulos P, Wang SP, Shi X, Kutateladze TG. Kumar Sinha V, et al. J Mol Biol. 2024 Apr 1;436(7):168212. doi: 10.1016/j.jmb.2023.168212. Epub 2023 Jul 20. J Mol Biol. 2024. PMID: 37481158

2

Histone Methyltransferase KMT2B Promotes Metastasis and Angiogenesis of Cervical Cancer by Upregulating EGF Expression.

Zhao D, Yuan H, Fang Y, Gao J, Li H, Li M, Cong H, Zhang C, Liang Y, Li J, Yang H, Yao M, Du M, Tu H, Gan Y. Zhao D, et al. Int J Biol Sci. 2023 Jan 1;19(1):34-49. doi: 10.7150/ijbs.72381. eCollection 2023. Int J Biol Sci. 2023. PMID: 36594087 Free PMC article.

3

A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.

Owczarzak LR, Hogan KE, Dineen RT, Gill CE, Li MH. Owczarzak LR, et al. Tremor Other Hyperkinet Mov (N Y). 2022 Mar 17;12:7. doi: 10.5334/tohm.679. eCollection 2022. Tremor Other Hyperkinet Mov (N Y). 2022. PMID: 35415007 Free PMC article.

4

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Mirza-Schreiber N, et al. Brain. 2022 Apr 18;145(2):644-654. doi: 10.1093/brain/awab360. Brain. 2022. PMID: 34590685

5

Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype.

Damásio J, Santos M, Samões R, Araújo M, Macedo M, Sardoeira A, Cavaco S, Freitas J, Barros J, Oliveira J, Sequeiros J. Damásio J, et al. Clin Genet. 2021 Dec;100(6):743-747. doi: 10.1111/cge.14055. Epub 2021 Sep 8. Clin Genet. 2021. PMID: 34477219

6

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

Ciolfi A, Foroutan A, Capuano A, Pedace L, Travaglini L, Pizzi S, Andreani M, Miele E, Invernizzi F, Reale C, Panteghini C, Iascone M, Niceta M, Gavrilova RH, Schultz-Rogers L, Agolini E, Bedeschi MF, Prontera P, Garibaldi M, Galosi S, Leuzzi V, Soliveri P, Olson RJ, Zorzi GS, Garavaglia BM, Tartaglia M, Sadikovic B. Ciolfi A, et al. Clin Epigenetics. 2021 Aug 11;13(1):157. doi: 10.1186/s13148-021-01145-y. Clin Epigenetics. 2021. PMID: 34380541 Free PMC article.

7

Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.

Marogianni C, Georgouli D, Dadouli K, Ntellas P, Rikos D, Hadjigeorgiou GM, Spanaki C, Xiromerisiou G. Marogianni C, et al. Mol Biol Rep. 2021 Jan;48(1):371-379. doi: 10.1007/s11033-020-06057-3. Epub 2020 Dec 9. Mol Biol Rep. 2021. PMID: 33300088

8

Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D, Znacz… See abstract for full author list ➔ Cif L, et al. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.

9

Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants.

Li XY, Dai LF, Wan XH, Guo Y, Dai Y, Li SL, Fang F, Wang XH, Zhang WH, Liu TH, Xie ZH, Fang T, Wang L, Ding CH. Li XY, et al. Parkinsonism Relat Disord. 2020 Aug;77:76-82. doi: 10.1016/j.parkreldis.2020.06.002. Epub 2020 Jun 9. Parkinsonism Relat Disord. 2020. PMID: 32634684

10

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Carecchio M, Invernizzi F, Gonzàlez-Latapi P, Panteghini C, Zorzi G, Romito L, Leuzzi V, Galosi S, Reale C, Zibordi F, Joseph AP, Topf M, Piano C, Bentivoglio AR, Girotti F, Morana P, Morana B, Kurian MA, Garavaglia B, Mencacci NE, Lubbe SJ, Nardocci N. Carecchio M, et al. Mov Disord. 2019 Oct;34(10):1516-1527. doi: 10.1002/mds.27771. Epub 2019 Jun 19. Mov Disord. 2019. PMID: 31216378

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