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120 results

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Page 1
Wip1 phosphatase activator QGC-8-52 specifically sensitizes p53-negative cancer cells to chemotherapy while protecting normal cells.
Wu K, Ge XX, Duan XF, Li JQ, Wang K, Chen QH, Huang ZM, Zhang WY, Wu Y, Li Q. Wu K, et al. Drug Resist Updat. 2025 Mar;79:101196. doi: 10.1016/j.drup.2024.101196. Epub 2024 Dec 24. Drug Resist Updat. 2025. PMID: 39787991
This effect was mediated by the Wip1-FOXO3a interaction and subsequent dephosphorylation of Thr487 that resulted, in response to anticancer treatment, in enhancing the transcription activity of FOXO3a on the proapoptotic TRAIL gene. The sensitizing effect of Wip1 activatio …
This effect was mediated by the Wip1-FOXO3a interaction and subsequent dephosphorylation of Thr487 that resulted, in response to anticancer …
PPM1D/Wip1 is amplified, overexpressed, and mutated in human non-Hodgkin's lymphomas.
Pilevneli H, Döger F, Karagenç L, Kozacı D, Kilic Eren M. Pilevneli H, et al. Mol Biol Rep. 2024 Nov 4;51(1):1115. doi: 10.1007/s11033-024-10029-2. Mol Biol Rep. 2024. PMID: 39489796

CONCLUSIONS: We found that PPM1D gained gene copy number in NHL tumors by 0.7-8 times compared to the control (p < 0.01). Increased PPM1D/Wip1 gene copy number was associated with higher mRNA and protein expression in human NHL samples (p < 0.01)

…

CONCLUSIONS: We found that PPM1D gained gene copy number in NHL tumors by 0.7-8 times compared to the control (p < 0.01). I

…
Clonal hematopoiesis in cardiovascular aging: Insights from the verona heart study.
Kwiatkowska KM, Martinelli N, Bertamini L, De Fanti S, Olivieri O, Sala C, Castellani G, Xumerle L, Zago E, Busti F, Giuliani C, Garagnani P, Girelli D. Kwiatkowska KM, et al. Geroscience. 2025 Apr;47(2):2149-2157. doi: 10.1007/s11357-024-01367-x. Epub 2024 Oct 26. Geroscience. 2025. PMID: 39460851 Free PMC article.
Employing deep sequencing and an amplicon-based approach, we focused on 11 key genetic regions in ASXL1, DNMT3A, IDH1, IDH2, JAK2, PPM1D, SF3B1, SRSF2, TET2, TP53, and U2AF1 genes to investigate clonal hematopoiesis. ...
Employing deep sequencing and an amplicon-based approach, we focused on 11 key genetic regions in ASXL1, DNMT3A, IDH1, IDH2, JAK2, PPM1D …
Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.
Cunningham JL, Frankovich J, Dubin RA, Pedrosa E, Baykara RN, Schlenk NC, Maqbool SB, Dolstra H, Marino J, Edinger J, Shea JM, Laje G, Swagemakers SMA, Sinnadurai S, Zhang ZD, Lin JR, van der Spek PJ, Lachman HM, Lachman HM. Cunningham JL, et al. Dev Neurosci. 2025;47(4):231-250. doi: 10.1159/000541908. Epub 2024 Oct 11. Dev Neurosci. 2025. PMID: 39396515 Free PMC article.
The underlying causes are unclear, but a current hypothesis suggests the convergence of genes that influence neuronal and immunological function. We previously identified 11 genes in pediatric acute-onset neuropsychiatric syndrome (PANS), in which two classes of …
The underlying causes are unclear, but a current hypothesis suggests the convergence of genes that influence neuronal and immunologic …
Genetic variants in patients with multiple arterial aneurysms.
Körfer D, Grond-Ginsbach C, Peters AS, Burkart S, Hempel M, Schaaf CP, Böckler D, Erhart P. Körfer D, et al. Langenbecks Arch Surg. 2024 Oct 9;409(1):304. doi: 10.1007/s00423-024-03488-5. Langenbecks Arch Surg. 2024. PMID: 39382597 Free PMC article.
Homozygous or compound heterozygous pathogenic variants in this gene are associated with Ehlers-Danlos syndrome (classical-like). Another patient with six aneurysms carried two heterozygous TET2 variants together with a heterozygous PPM1D variant. Pathogenic variant …
Homozygous or compound heterozygous pathogenic variants in this gene are associated with Ehlers-Danlos syndrome (classical-like). Ano …
Distinct landscape and clinical implications of therapy-related clonal hematopoiesis.
Takahashi K, Nakada D, Goodell M. Takahashi K, et al. J Clin Invest. 2024 Oct 1;134(19):e180069. doi: 10.1172/JCI180069. J Clin Invest. 2024. PMID: 39352380 Free PMC article. Review.
With the increased use of genetic analysis in oncological care, the detection of t-CH among cancer patients is becoming increasingly common. t-CH arises through the selective bottleneck imposed by chemotherapies and potentially through direct mutagenesis from chemotherapies, resu …
With the increased use of genetic analysis in oncological care, the detection of t-CH among cancer patients is becoming increasingly common. …
Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations.
Gutierrez-Rodrigues F, Groarke EM, Thongon N, Rodriguez-Sevilla JJ, Catto LFB, Niewisch MR, Shalhoub R, McReynolds LJ, Clé DV, Patel BA, Ma X, Hironaka D, Donaires FS, Spitofsky N, Santana BA, Lai TP, Alemu L, Kajigaya S, Darden I, Zhou W, Browne PV, Paul S, Lack J, Young DJ, DiNardo CD, Aviv A, Ma F, De Oliveira MM, de Azambuja AP, Dunbar CE, Olszewska M, Olivier E, Papapetrou EP, Giri N, Alter BP, Bonfim C, Wu CO, Garcia-Manero G, Savage SA, Young NS, Colla S, Calado RT. Gutierrez-Rodrigues F, et al. Blood. 2024 Dec 5;144(23):2402-2416. doi: 10.1182/blood.2024025023. Blood. 2024. PMID: 39316766 Free PMC article.
CH occurred predominantly in symptomatic patients and in signature genes typically associated with cancers: PPM1D, POT1, TERT promoter (TERTp), U2AF1S34, and/or TP53. ...In contrast, somatic POT1/PPM1D/TERTp mutations had distinct trajectories unrelated to ca …
CH occurred predominantly in symptomatic patients and in signature genes typically associated with cancers: PPM1D, POT1, TERT …
The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.
Tsoulos N, Agiannitopoulos K, Potska K, Katseli A, Ntogka C, Pepe G, Bouzarelou D, Papathanasiou A, Grigoriadis D, Tsaousis GN, Gogas H, Troupis T, Papazisis K, Natsiopoulos I, Venizelos V, Amarantidis K, Giassas S, Papadimitriou C, Fountzilas E, Stathoulopoulou M, Koumarianou A, Xepapadakis G, Blidaru A, Zob D, Voinea O, Özdoğan M, Ergören MÇ, Hegmane A, Papadopoulou E, Nasioulas G, Markopoulos C. Tsoulos N, et al. Cancer Genomics Proteomics. 2024 Sep-Oct;21(5):448-463. doi: 10.21873/cgp.20463. Cancer Genomics Proteomics. 2024. PMID: 39191493 Free PMC article.
Specifically, 54.8% of the patients had a pathogenic variant in a clinically significant gene (BRCA1, BRCA2, PALB2, RAD51C, PMS2, CDKN2A, MLH1, MSH2, TP53, MSH6, APC, RAD51D, PTEN, RET, CDH1, MEN1, and VHL). ...(Gln294*); MLH3: c.405del, p.(Asp136Metfs*2), PPM1D: c. …
Specifically, 54.8% of the patients had a pathogenic variant in a clinically significant gene (BRCA1, BRCA2, PALB2, RAD51C, PMS2, CDK …
Genomic mutation patterns and prognostic value in de novo and secondary acute myeloid leukemia: A multicenter study from China.
Dou X, Dan C, Zhang D, Zhou H, He R, Zhou G, Zhu Y, Fu N, Niu B, Xu S, Liao Y, Luo Z, Yang L, Zhang H, Xu Y, Zhan Q, Chen W, Yang Z, Tang X, Zhang H, Xiao Q, Chen J, Liu L, Wang Y, Pei L, Wang L. Dou X, et al. Int J Cancer. 2024 Dec 15;155(12):2253-2264. doi: 10.1002/ijc.35125. Epub 2024 Aug 7. Int J Cancer. 2024. PMID: 39109820
Additionally, ASXL1, NRAS, PPMID, SRSF2, TP53 and U2AF1 mutations were more common in patients with s-AML, which PPM1D was more frequently associated with therapy-related AML (t-AML). Advanced age and hyperleukocytosis independently served as adverse prognostic factors for …
Additionally, ASXL1, NRAS, PPMID, SRSF2, TP53 and U2AF1 mutations were more common in patients with s-AML, which PPM1D was more frequ …
Value and limitations of targeted next-generation sequencing in idiopathic hypereosinophilia: an integrative diagnostic tool in challenging cases.
Cattaneo D, Marchetti A, Bucelli C, Galli N, Lionetti M, Bellani V, Gianelli U, Passamonti F, Bolli N, Iurlo A. Cattaneo D, et al. Clin Exp Med. 2024 Jul 23;24(1):165. doi: 10.1007/s10238-024-01441-w. Clin Exp Med. 2024. PMID: 39042228 Free PMC article.
Here, we reviewed clinical-morphological data and investigated mutational profiles by NGS in a single-center series of 28 consecutive patients admitted to our hospital between September 2011 and November 2021 for idiopathic hypereosinophilia (HE).Bone marrow (BM) morphology was e …
Here, we reviewed clinical-morphological data and investigated mutational profiles by NGS in a single-center series of 28 consecutive patien …
120 results