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2025 57
2026 71

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116 results

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Page 1
Pemigatinib for Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement.
Verstovsek S, Kiladjian JJ, Vannucchi AM, Patel JL, Rambaldi A, Shomali WE, Oh ST, Usuki K, Harrison CN, Ritchie EK, Akard LP, Hernández-Boluda JC, Huguet F, Colucci P, Zhen H, Oliveira N, Gilmartin A, Langford C, George TI, Reiter A, Gotlib J. Verstovsek S, et al. NEJM Evid. 2025 Sep;4(9):EVIDoa2500017. doi: 10.1056/EVIDoa2500017. Epub 2025 Aug 26. NEJM Evid. 2025. PMID: 40856555 Clinical Trial.
BACKGROUND: Myeloid/lymphoid neoplasms with fibroblast growth factor receptor 1 rearrangements (MLN-FGFR1) are associated with poor prognosis. They are caused by chromosome 8p11 rearrangements that result in FGFR1 fusion genes and …
BACKGROUND: Myeloid/lymphoid neoplasms with fibroblast growth factor receptor 1 rearrangements (MLN-FG …
A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas.
Apfelbaum AA, Morin E, Sturm D, Ayoub G, DiGiacomo J, Bahadur S, Chandarana B, Power PC, Cusick MM, Novikov D, Prabhakar P, Jones RE, Vogelzang J, Bossi CC, Malinowski S, Woodward LM, Jones TA, Jeang J, Lamson SW, Collins J, Cai KY, Jones JS, Oh S, Jeon H, Wang J, Cameron A, Rechter P, De Leon A, Murugesan K, Montesion M, Albacker LA, Ramkissoon SH, van Tilburg CM, Hardin EC, Sievers P, Sahm F, Yeo KK, Rosenberg T, Chi SN, Wright KD, Hébert S, Peck S, Picca A, Larouche V, Renzi S, Buhrlage SJ, Bale TA, Smith AA, Touat M, Jabado N, Fischer ES, Eck MJ, Baird L, Witt O, Kleinman CL, Nguyen QD, Sheer D, Alexandrescu S, Jones DTW, Ligon KL, Bandopadhayay P. Apfelbaum AA, et al. Nat Commun. 2025 Jul 31;16(1):7018. doi: 10.1038/s41467-025-61820-z. Nat Commun. 2025. PMID: 40744913 Free PMC article.
Alterations in FGFR proteins are differentially enriched by age, tumor grade, and histology, with FGFR1 alterations associated with glioneuronal histologies. Leveraging isogenic systems, we confirm FGFR1 alterations to induce downstream Mitogen Activated Protein Kin …
Alterations in FGFR proteins are differentially enriched by age, tumor grade, and histology, with FGFR1 alterations associated with g …
Multivariate genome-wide analyses of insulin resistance unravel novel loci and therapeutic targets for cardiometabolic health.
Ye C, Dou C, Liu D, Kong L, Chen M, Xu M, Xu Y, Li M, Zhao Z, Zheng J, Lu J, Chen Y, Ning G, Wang W, Bi Y, Wang T. Ye C, et al. Nat Commun. 2025 Nov 17;16(1):10057. doi: 10.1038/s41467-025-64985-9. Nat Commun. 2025. PMID: 41249132 Free PMC article.
We outline 21 of 2644 druggable genes for insulin resistance by Mendelian randomization and colocalization, where six genes (AKT1, ERBB3, FCGR1A, FGFR1, LPL, NR1H3) encode targets for approved drugs with consistent directions in alleviating insulin resistance, with no sign …
We outline 21 of 2644 druggable genes for insulin resistance by Mendelian randomization and colocalization, where six genes (AKT1, ERBB3, FC …
Single-cell transcriptomic profiling reveals liver fibrosis in colorectal cancer liver metastasis.
Deng Y, Guo C, Liu X, Li X, Liu J, Liu W, Chen J, Huang Z, Zhang Y, Bi X, Zhao J, Zhou J, Li Z, Wu H, Xing B, Chen Q, Zhao H. Deng Y, et al. Exp Mol Med. 2025 Nov;57(11):2517-2532. doi: 10.1038/s12276-025-01573-3. Epub 2025 Nov 14. Exp Mol Med. 2025. PMID: 41258075 Free PMC article.
Further investigation highlighted the pivotal role of VCAN_eCAF in remodeling the tumor fibrosis in the tumor microenvironment of Fibrosis+ LM, emphasizing potential targetable interactions such as FGF23 or FGF3-FGFR1. Validation through multiplex immunohistochemistry/immu …
Further investigation highlighted the pivotal role of VCAN_eCAF in remodeling the tumor fibrosis in the tumor microenvironment of Fibrosis+ …
Novel and recurrent genetic variants associated with male and female infertility.
Jankowska KK, Kutkowska-Kazmierczak A, Ślusarczyk K, Domaszewicz A, Duk K, Wolski JK, Kozioł K, Sawicka J, Klapecki J, Laudański P, Wertheim-Tysarowska K, Rygiel AM. Jankowska KK, et al. J Appl Genet. 2025 Dec;66(4):993-1003. doi: 10.1007/s13353-024-00935-3. Epub 2025 Jan 15. J Appl Genet. 2025. PMID: 39809967
Among the 18 identified variants, 4 were novel (FGF8:p.Ala147Thr; SEMA3A:p.Arg544Cys; FGFR1:p.Thr141IlefsTer10; NSMF: p.Tyr242Cys), while 14 were recurrent. Our study expands the knowledge of the genetic basis of the infertility disorders and highlights the importance of g …
Among the 18 identified variants, 4 were novel (FGF8:p.Ala147Thr; SEMA3A:p.Arg544Cys; FGFR1:p.Thr141IlefsTer10; NSMF: p.Tyr242Cys), w …
Dissecting the Genetic Contribution of Tooth Agenesis.
Fallea A, Vinci M, L'Episcopo S, Bartolone M, Musumeci A, Ragalmuto A, Treccarichi S, Calì F. Fallea A, et al. Int J Mol Sci. 2025 Oct 28;26(21):10485. doi: 10.3390/ijms262110485. Int J Mol Sci. 2025. PMID: 41226524 Free PMC article. Review.
The most involved pathways include TNF receptor binding, encompassing genes such as EDA, EDA2R, EDAR, and EDARADD, and the mTOR signaling pathway, which includes AXIN2, FGFR1, LRP6, WNT10A, and WNT10B. The aim of this review is to provide an critical synthesis of the genet …
The most involved pathways include TNF receptor binding, encompassing genes such as EDA, EDA2R, EDAR, and EDARADD, and the mTOR signaling pa …
Fibroblast growth factor receptor inhibition for succinate dehydrogenase-deficient gastrointestinal stromal tumors: a phase 2 trial.
Merriam P, Morrow JJ, Mazzola E, Solimini NL, Gokhale PC, Chi P, Chen AP, Agulnik M, Burgess M, Schuetze SM, Somaiah N, Van Tine BA, Pollack SM, Tinoco G, Trent J, Wilky BA, Bothwick N, Eschle BK, Nguyen V, Beumer JH, Rastkari N, Jiwani S, Wu PI, Pelosof L, Hemming ML, Shapiro GI, Demetri G, Bernstein B, George S. Merriam P, et al. Nat Med. 2026 Jun;32(6):2191-2200. doi: 10.1038/s41591-026-04376-9. Epub 2026 May 26. Nat Med. 2026. PMID: 42191879 Free PMC article. Clinical Trial.
Excess methylation in SDH-deficient gastrointestinal stromal tumors disrupts genomic insulators, inducing aberrant expression of oncogenic ligands FGF3, FGF4, and activating an autocrine signaling loop mediated through FGFR1. We conducted a phase 2 trial of pan-fibroblast …
Excess methylation in SDH-deficient gastrointestinal stromal tumors disrupts genomic insulators, inducing aberrant expression of oncogenic l …
Mutated FGFR1 is an oncogenic driver and therapeutic target in high-risk neuroblastoma.
Werr L, Boland J, Petersen J, Iglesias F, Höppner S, Bartenhagen C, Rosswog C, Hellmann AM, Kahlert Y, Hemstedt N, Ibruli N, Dammert MA, Decarolis B, Werner JM, Malchers F, Schramm K, Witt O, Beiske KH, Rognlien AGW, Gunnes MW, Langenberg KP, Molenaar J, Bernkopf M, Taschner-Mandl S, Hughes D, George SL, Chesler L, Schulte JH, Barone G, Capasso M, Surrey LF, Bagatell R, Masliah-Planchon J, Schleiermacher G, Grüll H, Westermann F, Schultheis AM, Büttner R, Henssen AG, Eggert A, Peifer M, Shukla NN, Simon T, Hero B, Reinhardt HC, Thomas RK, Fischer M. Werr L, et al. J Clin Invest. 2026 Feb 12;136(7):e189152. doi: 10.1172/JCI189152. eCollection 2026 Apr 1. J Clin Invest. 2026. PMID: 41678281 Free PMC article.
Fibroblast growth factor receptor 1 (FGFR1) is recurrently mutated at p.N546 in neuroblastoma. We examined whether mutant FGFR1 is an oncogenic driver, a predictive biomarker, and an actionable vulnerability in this malignancy. ...
Fibroblast growth factor receptor 1 (FGFR1) is recurrently mutated at p.N546 in neuroblastoma. We …
New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.
Othman AA, Babcock HE, Gill CS, Fraser JL, Regier DS, Kaur R, Simpson KL, Ferreira CR. Othman AA, et al. Am J Med Genet A. 2025 Sep;197(9):e64092. doi: 10.1002/ajmg.a.64092. Epub 2025 Apr 22. Am J Med Genet A. 2025. PMID: 40260920 Free PMC article.
Osteoglophonic dysplasia (OGD) is a rare skeletal disorder caused by certain variants in FGFR1. The FGFR1 gene encodes a receptor vital for osteogenesis in the axial and craniofacial skeleton. ...We report two OGD patients with the c.1141T > C FGFR1 varian …
Osteoglophonic dysplasia (OGD) is a rare skeletal disorder caused by certain variants in FGFR1. The FGFR1 gene encodes a recep …
Myeloid/lymphoid neoplasms with FGFR1 rearrangement and pemigatinib.
Vannucchi AM, Patel JL, Kiladjian JJ. Vannucchi AM, et al. Blood. 2026 May 7;147(19):2171-2175. doi: 10.1182/blood.2025031016. Blood. 2026. PMID: 41779732 Review.
Myeloid/lymphoid neoplasms with FGFR1 rearrangement (M/LN-FGFR1) are rare, heterogenous diseases due to fusion transcripts originated by translocations of FGFR1 with different partners, resulting in constitutive FGFR1-mediated signaling. ...We summariz …
Myeloid/lymphoid neoplasms with FGFR1 rearrangement (M/LN-FGFR1) are rare, heterogenous diseases due to fusion transcripts ori …
116 results