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2022 1
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Targeting NPM1 Epigenetically Promotes Postinfarction Cardiac Repair by Reprogramming Reparative Macrophage Metabolism.
Zhang S, Zhang Y, Duan X, Wang B, Zhan Z. Zhang S, et al. Circulation. 2024 Jun 18;149(25):1982-2001. doi: 10.1161/CIRCULATIONAHA.123.065506. Epub 2024 Feb 23. Circulation. 2024. PMID: 38390737 Free PMC article.
The oligomeric NPM1 recruited histone demethylase KDM5b to the promoter of Tsc1 (TSC complex subunit 1), the mTOR (mechanistic target of rapamycin kinase) complex inhibitor, reduced histone H3K4me3 modification, and inhibited TSC1 expression, which then facilitated …
The oligomeric NPM1 recruited histone demethylase KDM5b to the promoter of Tsc1 (TSC complex subunit 1), the mTOR (mechanistic target …
The genomic and transcriptomic landscape of metastastic urothelial cancer.
Loriot Y, Kamal M, Syx L, Nicolle R, Dupain C, Menssouri N, Duquesne I, Lavaud P, Nicotra C, Ngocamus M, Lacroix L, Tselikas L, Crehange G, Friboulet L, Castel-Ajgal Z, Neuzillet Y, Borcoman E, Beuzeboc P, Marret G, Gutman T, Wong J, Radvanyi F, Dureau S, Scoazec JY, Servant N, Allory Y, Besse B, Andre F, Le Tourneau C, Massard C, Bieche I. Loriot Y, et al. Nat Commun. 2024 Oct 4;15(1):8603. doi: 10.1038/s41467-024-52915-0. Nat Commun. 2024. PMID: 39366934 Free PMC article.
We identify potential therapeutic targets in 73% of mUC patients, of which FGFR3 (26%), ERBB2 (7%), TSC1 (7%), and PIK3CA (13%) are the most common. NECTIN4 and TACSTD2 are highly expressed regardless of molecular subtypes, FGFR3 alterations and sites of metastases....
We identify potential therapeutic targets in 73% of mUC patients, of which FGFR3 (26%), ERBB2 (7%), TSC1 (7%), and PIK3CA (13%) are t …
Epidemiology of Renal Cancer: Incidence, Mortality, Survival, Genetic Predisposition, and Risk Factors.
Larcher A, Campi R, Bex A, Bray F, Bukavina L, Jonasch E, Jemal A, Marston Linehan W, Marandino L, Mir MC, Mollica V, Shuch B, Stewart GD, Sung H, Tran M, Kutikov A. Larcher A, et al. Eur Urol. 2025 Oct;88(4):341-358. doi: 10.1016/j.eururo.2025.06.005. Epub 2025 Jul 31. Eur Urol. 2025. PMID: 40750496 Review.
Pathogenic variants in the alleles, VHL, ELOC, TSC1/2, MET, FLCN, PRDM10, SDHA/B/C/D, MiTF, CDC73, FH, PTEN, BAP1, SMARCB1, CHEK2, MUTYH, BRCA2, ATM, and APC, predispose to RC. ...
Pathogenic variants in the alleles, VHL, ELOC, TSC1/2, MET, FLCN, PRDM10, SDHA/B/C/D, MiTF, CDC73, FH, PTEN, BAP1, SMARCB1, CHEK2, MU …
Understanding and Overcoming Resistance to Selective FGFR Inhibitors across FGFR2-Driven Malignancies.
Facchinetti F, Loriot Y, Brayé F, Vasseur D, Bahleda R, Bigot L, Barbé R, Nobre C, Combarel D, Michiels S, Italiano A, Smolenschi C, Tselikas L, Scoazec JY, Ponce-Aix S, Besse B, André F, Olaussen KA, Hollebecque A, Friboulet L. Facchinetti F, et al. Clin Cancer Res. 2024 Nov 1;30(21):4943-4956. doi: 10.1158/1078-0432.CCR-24-1834. Clin Cancer Res. 2024. PMID: 39226398 Free PMC article.
At progression to a first FGFR inhibitor, 12 patients received futibatinib or lirafugratinib (irreversible inhibitors), with variable clinical outcomes depending on previous resistance mechanisms. Two patients with TSC1 or PIK3CA mutations benefited from everolimus. In cel …
At progression to a first FGFR inhibitor, 12 patients received futibatinib or lirafugratinib (irreversible inhibitors), with variable clinic …
Tuberous Sclerosis Complex.
Wataya-Kaneda M. Wataya-Kaneda M. Keio J Med. 2025 Mar 25;74(1):42-51. doi: 10.2302/kjm.2023-0011-IR. Epub 2023 Aug 2. Keio J Med. 2025. PMID: 37532517 Free article. Review.
These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in the causative genes TSC1 or TSC2. The elucidation of the pathogenesis of this disease and advances in diagnostic technologies have …
These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations i …
Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.
Eser M, Hekimoglu G, Kutlubay B, Sager SG, Turkyilmaz A. Eser M, et al. Mol Genet Genomics. 2024 Dec 26;300(1):6. doi: 10.1007/s00438-024-02210-w. Mol Genet Genomics. 2024. PMID: 39722056
We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC a …
We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next …
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG, Cardozo LFM, Schwind MR, Carvalho D, Almeida JPG, Cappellano AM, Alegria TGP, Nanhoe S, Nellist M, Passos-Bueno MR, Chiavegatto S, Silva NS, Rosemberg S, Pereira APA, Antoniuk SA, Haddad LA. Dufner-Almeida LG, et al. Genes (Basel). 2024 Nov 3;15(11):1432. doi: 10.3390/genes15111432. Genes (Basel). 2024. PMID: 39596632 Free PMC article.
TSC1 and TSC2 encode the core components of the TSC1/2 complex (TSC1/2), a negative regulator of the mechanistic target of rapamycin (MTOR) complex 1 (TORC1). ...Pathogenic DNA alterations were identified in 106 cases (91%); 18 (17%) in TSC1 and 88 (83 …
TSC1 and TSC2 encode the core components of the TSC1/2 complex (TSC1/2), a negative regulator of the mechanistic target …
Toward a CRISPR-based mouse model of Vhl-deficient clear cell kidney cancer: Initial experience and lessons learned.
Stransky LA, Gao W, Schmidt LS, Bi K, Ricketts CJ, Ramesh V, James A, Difilippantonio S, Ileva L, Kalen JD, Karim B, Jeon A, Morgan T, Warner AC, Turan S, Unite J, Tran B, Choudhari S, Zhao Y, Linn DE, Yun C, Dhandapani S, Parab V, Pinheiro EM, Morris N, He L, Vigeant SM, Pignon JC, Sticco-Ivins M, Signoretti S, Van Allen EM, Linehan WM, Kaelin WG Jr. Stransky LA, et al. Proc Natl Acad Sci U S A. 2024 Oct 8;121(41):e2408549121. doi: 10.1073/pnas.2408549121. Epub 2024 Oct 4. Proc Natl Acad Sci U S A. 2024. PMID: 39365820 Free PMC article.
An AAV targeting Vhl, Pbrm1, Keap1, and Tsc1 reproducibly caused macroscopic ccRCCs that partially resembled human ccRCC tumors with respect to transcriptome and cell of origin and responded to a ccRCC standard-of-care agent, axitinib. ...
An AAV targeting Vhl, Pbrm1, Keap1, and Tsc1 reproducibly caused macroscopic ccRCCs that partially resembled human ccRCC tumors with …
Two genome-wide interaction loci modify the association of nonsteroidal anti-inflammatory drugs with colorectal cancer.
Drew DA, Kim AE, Lin Y, Qu C, Morrison J, Lewinger JP, Kawaguchi E, Wang J, Fu Y, Zemlianskaia N, Díez-Obrero V, Bien SA, Dimou N, Albanes D, Baurley JW, Wu AH, Buchanan DD, Potter JD, Prentice RL, Harlid S, Arndt V, Barry EL, Berndt SI, Bouras E, Brenner H, Budiarto A, Burnett-Hartman A, Campbell PT, Carreras-Torres R, Casey G, Chang-Claude J, Conti DV, Devall MAM, Figueiredo JC, Gruber SB, Gsur A, Gunter MJ, Harrison TA, Hidaka A, Hoffmeister M, Huyghe JR, Jenkins MA, Jordahl KM, Kundaje A, Le Marchand L, Li L, Lynch BM, Murphy N, Nassir R, Newcomb PA, Newton CC, Obón-Santacana M, Ogino S, Ose J, Pai RK, Palmer JR, Papadimitriou N, Pardamean B, Pellatt AJ, Peoples AR, Platz EA, Rennert G, Ruiz-Narvaez E, Sakoda LC, Scacheri PC, Schmit SL, Schoen RE, Stern MC, Su YR, Thomas DC, Tian Y, Tsilidis KK, Ulrich CM, Um CY, van Duijnhoven FJB, Van Guelpen B, White E, Hsu L, Moreno V, Peters U, Chan AT, Gauderman WJ. Drew DA, et al. Sci Adv. 2024 May 31;10(22):eadk3121. doi: 10.1126/sciadv.adk3121. Epub 2024 May 29. Sci Adv. 2024. PMID: 38809988 Free PMC article.
After adjusting for multiple comparisons, we identified statistically significant interactions between regular aspirin/NSAID use and variants in 6q24.1 (top hit rs72833769), which has evidence of influencing expression of TBC1D7 (a subunit of the TSC1-TSC2 complex, a key r …
After adjusting for multiple comparisons, we identified statistically significant interactions between regular aspirin/NSAID use and variant …
Broadening the scope of multigene panel analysis for adult epilepsy patients.
Lee S, Kang MK, So KH, Jang R, Shin YW, Jang SS, Yoon JG, Kim S, Kim M, Chu K, Lee SK, Kim KJ, Baek ST, Lim BC, Moon J. Lee S, et al. Epilepsia Open. 2024 Aug;9(4):1538-1549. doi: 10.1002/epi4.12993. Epub 2024 Jul 1. Epilepsia Open. 2024. PMID: 38946282 Free PMC article.
As a result, twelve probands (13.0%) had pathogenic or likely pathogenic variants in the following genes or regions: DEPDC5, 15q12-q13 duplication (n = 2), SLC6A1, SYNGAP1, EEF1A2, LGI1, MTOR, KCNQ2, MEF2C, and TSC1 (n = 1). We confirmed the functional impact of a novel tr …
As a result, twelve probands (13.0%) had pathogenic or likely pathogenic variants in the following genes or regions: DEPDC5, 15q12-q13 dupli …
94 results