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330 results

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Page 1
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013458 Free PMC article.
Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes euchromatic histone methyltransferase-1-a pivotal component of the epigenetic machinery. We have recruited 209 individuals with a rare EHMT …
Kleefstra syndrome (KLEFS1) is caused by EHMT1 haploinsufficiency and exhibits broad clinical manifestations. EHMT1 encodes eu …
EHMT1/EHMT2 in EMT, cancer stemness and drug resistance: emerging evidence and mechanisms.
Nachiyappan A, Gupta N, Taneja R. Nachiyappan A, et al. FEBS J. 2022 Mar;289(5):1329-1351. doi: 10.1111/febs.16334. Epub 2022 Jan 8. FEBS J. 2022. PMID: 34954891 Free article. Review.
The euchromatin histone lysine methyltransferase 1 (EHMT1) and euchromatin histone lysine methyltransferase 2 (EHMT2) that primarily mediate histone 3 lysine 9 di-methylation (H3K9me2), as well as methylation of non-histone proteins, are now recognised to be aberrantly exp …
The euchromatin histone lysine methyltransferase 1 (EHMT1) and euchromatin histone lysine methyltransferase 2 (EHMT2) that primarily …
EHMT1/2 Inhibition Promotes Regression of Therapy-Resistant Ovarian Cancer Tumors in a CD8 T-cell-Dependent Manner.
Nguyen LL, Watson ZL, Ortega R, Woodruff ER, Jordan KR, Iwanaga R, Yamamoto TM, Bailey CA, To F, Lin S, Villagomez FR, Jeong AD, Guntupalli SR, Behbakht K, Gibaja V, Arnoult N, Chuong EB, Bitler BG. Nguyen LL, et al. Mol Cancer Res. 2024 Dec 3;22(12):1117-1127. doi: 10.1158/1541-7786.MCR-24-0067. Mol Cancer Res. 2024. PMID: 39136655 Free PMC article.
Here, we created an immunocompetent, PARPi-resistant mouse model to test the efficacy of combinatory PARPi and euchromatic histone methyltransferase 1/2 inhibitor (EHMTi) in the treatment of PARPi-resistant ovarian cancer. We discovered that inhibition of EHMT1/2 resensiti …
Here, we created an immunocompetent, PARPi-resistant mouse model to test the efficacy of combinatory PARPi and euchromatic histone methyltra …
EHMT1 promotes tumor progression and maintains stemness by regulating ALDH1A1 expression in alveolar rhabdomyosarcoma.
Nachiyappan A, Soon JLJ, Lim HJ, Lee VK, Taneja R. Nachiyappan A, et al. J Pathol. 2022 Mar;256(3):349-362. doi: 10.1002/path.5848. Epub 2022 Jan 10. J Pathol. 2022. PMID: 34897678
Here, we report that the enzyme euchromatic histone lysine methyltransferase 1 (EHMT1) is expressed in primary and relapse ARMS tumors. EHMT1 suppression impaired motility and induced differentiation in ARMS cell lines and reduced tumor progression in a mouse xenogr …
Here, we report that the enzyme euchromatic histone lysine methyltransferase 1 (EHMT1) is expressed in primary and relapse ARMS tumor …
Demethylation of EHMT1/GLP Protein Reprograms Its Transcriptional Activity and Promotes Prostate Cancer Progression.
Besschetnova A, Han W, Liu M, Gao Y, Li M, Wang Z, Labaf M, Patalano S, Venkataramani K, Muriph RE, Macoska JA, Siegfried KR, Evans J, Balk SP, Gao S, Han D, Cai C. Besschetnova A, et al. Cancer Res Commun. 2023 Aug 31;3(8):1716-1730. doi: 10.1158/2767-9764.CRC-23-0208. eCollection 2023 Aug. Cancer Res Commun. 2023. PMID: 37663929 Free PMC article.
Through comprehensive investigations, we discovered that both EHMT1 and EHMT2 proteins have the ability to activate oncogenic transcription programs in prostate cancer cells. ...Strikingly, concurrent demethylation of both lysine residues resulted in a rapid and profound e …
Through comprehensive investigations, we discovered that both EHMT1 and EHMT2 proteins have the ability to activate oncogenic transcr …
EHMT1 mediates cellular motility in embryonal rhabdomyosarcoma by activating SOX8 expression.
Bajaj U, Das D, Leung JY, Binti Abdul Rashi NF, Taneja R. Bajaj U, et al. Br J Cancer. 2025 Aug;133(3):305-315. doi: 10.1038/s41416-025-03066-6. Epub 2025 Jun 4. Br J Cancer. 2025. PMID: 40467997
METHODS: We performed transcriptomic and phenotypic analysis in vitro and in vivo using EHMT1 depleted cells as well as that of its target gene SOX8. RESULTS: EHMT1 was found to enhance migration and invasion of ERMS cells in vitro and metastasis in vivo. ...CONCLUS …
METHODS: We performed transcriptomic and phenotypic analysis in vitro and in vivo using EHMT1 depleted cells as well as that of its t …
Distinct functions of EHMT1 and EHMT2 in cancer chemotherapy and immunotherapy.
Kang Z, Fu P, Ma H, Li T, Lu K, Liu J, Ginjala V, Romanienko P, Feng Z, Guan M, Ganesan S, Xia B. Kang Z, et al. bioRxiv [Preprint]. 2023 Oct 4:2023.10.03.560719. doi: 10.1101/2023.10.03.560719. bioRxiv. 2023. PMID: 37873068 Free PMC article. Preprint.
EHMT1/2 inhibition strongly potentiates the efficacy of alkylating chemotherapy and anti-PD-1 immunotherapy in mouse models of tripe negative breast cancer. The effects on DNA replication and alkylating agent sensitivity are largely caused by the loss of EHMT1-media …
EHMT1/2 inhibition strongly potentiates the efficacy of alkylating chemotherapy and anti-PD-1 immunotherapy in mouse models of tripe …
EHMT1 regulates Parvalbumin-positive interneuron development and GABAergic input in sensory cortical areas.
Negwer M, Piera K, Hesen R, Lütje L, Aarts L, Schubert D, Nadif Kasri N. Negwer M, et al. Brain Struct Funct. 2020 Dec;225(9):2701-2716. doi: 10.1007/s00429-020-02149-9. Epub 2020 Sep 25. Brain Struct Funct. 2020. PMID: 32975655 Free PMC article.
Mutations in the Euchromatic Histone Methyltransferase 1 (EHMT1) gene cause Kleefstra syndrome, a rare form of intellectual disability (ID) with strong autistic traits and sensory processing deficits. ...Together with earlier reports of excitatory impairments in Ehmt1 …
Mutations in the Euchromatic Histone Methyltransferase 1 (EHMT1) gene cause Kleefstra syndrome, a rare form of intellectual disabilit …
Multi-omics analyses demonstrate a critical role for EHMT1 methyltransferase in transcriptional repression during oogenesis.
Demond H, Hanna CW, Castillo-Fernandez J, Santos F, Papachristou EK, Segonds-Pichon A, Kishore K, Andrews S, D'Santos CS, Kelsey G. Demond H, et al. Genome Res. 2023 Jan;33(1):18-31. doi: 10.1101/gr.277046.122. Epub 2023 Jan 23. Genome Res. 2023. PMID: 36690445 Free PMC article.
Here, we investigated the role of EHMT1 in the oocyte in comparison to EHMT2 using oocyte-specific conditional knockout mouse models (Ehmt2 cKO, Ehmt1 cKO, Ehmt1/2 cDKO), with ablation from the early phase of oocyte growth. Loss of EHMT1 in Ehmt1 …
Here, we investigated the role of EHMT1 in the oocyte in comparison to EHMT2 using oocyte-specific conditional knockout mouse models …
EHMT1 knockdown induces apoptosis and cell cycle arrest in lung cancer cells by increasing CDKN1A expression.
Lee J, Kim K, Ryu TY, Jung CR, Lee MS, Lim JH, Park K, Kim DS, Son MY, Hamamoto R, Cho HS. Lee J, et al. Mol Oncol. 2021 Nov;15(11):2989-3002. doi: 10.1002/1878-0261.13050. Epub 2021 Jul 16. Mol Oncol. 2021. PMID: 34214254 Free PMC article.
Here, we demonstrate the involvement of EHMT1, a histone lysine methyltransferase, in lung cancer. Immunohistochemical analysis indicated that the expression levels of EHMT1 are significantly elevated in human lung carcinomas compared with non-neoplastic lung tissue …
Here, we demonstrate the involvement of EHMT1, a histone lysine methyltransferase, in lung cancer. Immunohistochemical analysis indic …
330 results