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2023 3
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Page 1
Multi-scale signaling and tumor evolution in high-grade gliomas.
Liu J, Cao S, Imbach KJ, Gritsenko MA, Lih TM, Kyle JE, Yaron-Barir TM, Binder ZA, Li Y, Strunilin I, Wang YT, Tsai CF, Ma W, Chen L, Clark NM, Shinkle A, Naser Al Deen N, Caravan W, Houston A, Simin FA, Wyczalkowski MA, Wang LB, Storrs E, Chen S, Illindala R, Li YD, Jayasinghe RG, Rykunov D, Cottingham SL, Chu RK, Weitz KK, Moore RJ, Sagendorf T, Petyuk VA, Nestor M, Bramer LM, Stratton KG, Schepmoes AA, Couvillion SP, Eder J, Kim YM, Gao Y, Fillmore TL, Zhao R, Monroe ME, Southard-Smith AN, Li YE, Jui-Hsien Lu R, Johnson JL, Wiznerowicz M, Hostetter G, Newton CJ, Ketchum KA, Thangudu RR, Barnholtz-Sloan JS, Wang P, Fenyö D, An E, Thiagarajan M, Robles AI, Mani DR, Smith RD, Porta-Pardo E, Cantley LC, Iavarone A, Chen F, Mesri M, Nasrallah MP, Zhang H, Resnick AC, Chheda MG, Rodland KD, Liu T, Ding L; Philadelphia Coalition for a Cure; Clinical Proteomic Tumor Analysis Consortium. Liu J, et al. Cancer Cell. 2024 Jul 8;42(7):1217-1238.e19. doi: 10.1016/j.ccell.2024.06.004. Cancer Cell. 2024. PMID: 38981438 Free PMC article.
Recurrent genetic alterations and phosphorylation events on PTPN11 map to important regulatory domains in three dimensions, suggesting a central role for PTPN11 signaling across high-grade gliomas....
Recurrent genetic alterations and phosphorylation events on PTPN11 map to important regulatory domains in three dimensions, suggestin …
Germline and somatic genetic landscape of pediatric myelodysplastic syndromes.
Kotmayer L, Kennedy AL, Wlodarski MW. Kotmayer L, et al. Haematologica. 2025 Sep 1;110(9):1974-1986. doi: 10.3324/haematol.2024.285700. Epub 2025 Jun 26. Haematologica. 2025. PMID: 40568716 Free PMC article. Review.
The somatic mutational landscape is different from adult MDS, with recurrent mutations affecting SETBP1, ASXL1, RUNX1, and RAS pathway genes (PTPN11, NRAS, KRAS, CBL), while mutations in spliceosome components and epigenetic regulators, which are common in adults, are virt …
The somatic mutational landscape is different from adult MDS, with recurrent mutations affecting SETBP1, ASXL1, RUNX1, and RAS pathway genes …
A transcriptomic, proteomic, and functional genetic atlas dissects neurofibromin function in the peripheral nervous system.
Vasudevan HN, Arang N, Sacconi Nunez M, Kennedy P, Payne E, Mohabeer S, Chien J, Wright A, Sale MJ, Krogan NJ, Forget A, McCormick F. Vasudevan HN, et al. Proc Natl Acad Sci U S A. 2025 Jul 8;122(27):e2506823122. doi: 10.1073/pnas.2506823122. Epub 2025 Jun 30. Proc Natl Acad Sci U S A. 2025. PMID: 40587782 Free PMC article.
Small guide NF1 (sgNF1) repression is sufficient to increase Ras GTP levels and alter gene expression to promote cell proliferation and dedifferentiation, with sgNF1 iPNs showing decreased sensitivity to selumetinib due to altered feedback regulation to Ras/RAF/MEK/ERK. Upstream …
Small guide NF1 (sgNF1) repression is sufficient to increase Ras GTP levels and alter gene expression to promote cell proliferation and dedi …
Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.
Ding X, Yang J, Han X, Shen YF, Yang K, Shangguan Y, Dong Y, Ye X. Ding X, et al. Orphanet J Rare Dis. 2025 Jul 4;20(1):340. doi: 10.1186/s13023-025-03878-y. Orphanet J Rare Dis. 2025. PMID: 40616106 Free PMC article.
Genetic variants were identified in NRAS, JAK2, MEFV, PTPN11, and SALL1, comprising 5 missense variants and 1 nonsense mutation, including a de novo NRAS mutation newly reported in a pediatric patient. ...
Genetic variants were identified in NRAS, JAK2, MEFV, PTPN11, and SALL1, comprising 5 missense variants and 1 nonsense mutation, incl …
Segmental macular hyperpigmentation: new genes, new clinical implications.
Kinsler VA, Knöpfel N, Polubothu S. Kinsler VA, et al. Br J Dermatol. 2025 Oct 17;193(5):987-995. doi: 10.1093/bjd/ljaf254. Br J Dermatol. 2025. PMID: 40644320
These were pathogenic mosaic variants in single genes (NRAS, n = 2; BRAF, n = 1; PTPN11, n = 1) and a mosaic chromosomal copy number variant (chromosome 5p gain, n = 1), all undetectable in blood. ...Specifically, detection of GNAS variants will involve monitoring and inve …
These were pathogenic mosaic variants in single genes (NRAS, n = 2; BRAF, n = 1; PTPN11, n = 1) and a mosaic chromosomal copy number …
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Yılmaz Uzman C, Gürsoy S, Özkan B, Vuran G, Ayyıldız Emecen D, Köprülü Ö, Bilen MM, Hazan F. Yılmaz Uzman C, et al. Eur J Pediatr. 2024 Dec 27;184(1):108. doi: 10.1007/s00431-024-05825-8. Eur J Pediatr. 2024. PMID: 39725732
The variants detected in NS patients were PTPN11 (21/32; 65.6%), LZTR1 (3/32; 9.3%), SOS1 (2/32; 6.2%), RAF1 (2/32; 6.2%), RIT1 (2/32; 6.2%), KRAS (1/32; 3.1%), and RRAS (1/32; 3.1%) genes, respectively. ...Additionally, rare clinical findings, such as lymphangioma circums …
The variants detected in NS patients were PTPN11 (21/32; 65.6%), LZTR1 (3/32; 9.3%), SOS1 (2/32; 6.2%), RAF1 (2/32; 6.2%), RIT1 (2/32 …
Detection of Targetable Genetic Abnormalities in Neuroblastoma Circulating Tumour DNA.
Danilenko M, Nath S, Baines J, Gordon F, Merugu S, Allinson LM, Potts A, Collins B, Goodman A, Kidman SE, McAnulty C, Jamieson D, Tweddle DA. Danilenko M, et al. Int J Mol Sci. 2025 Sep 27;26(19):9466. doi: 10.3390/ijms26199466. Int J Mol Sci. 2025. PMID: 41096734 Free PMC article.
Pathogenic mutations with a variant allele frequency (VAF) > 1% were identified in 13/32 (41%) ctDNA samples. ALK and PTPN11 were the most frequent, each being detected in 4/32 (13%) samples, together with oncogene amplifications. ...
Pathogenic mutations with a variant allele frequency (VAF) > 1% were identified in 13/32 (41%) ctDNA samples. ALK and PTPN11 were …
Unraveling the genetic and singaling landscapes of pediatric cancer.
Manjunath GK, Ankam KV, Dakal TC, Srihari Sharma MV, Nashier D, Mitra T, Kumar A. Manjunath GK, et al. Pathol Res Pract. 2024 Nov;263:155635. doi: 10.1016/j.prp.2024.155635. Epub 2024 Oct 5. Pathol Res Pract. 2024. PMID: 39393268
Key Tier I genes include TP53(5 %), NRAS(2.2 %), KRAS(1.8 %), CTNNB1(1.4 %), ATM(1.3 %), CREBBP(1.2 %), JAK2 (1.1 %), PIK3CA(1 %), PTEN(1 %), BRAF(0.9 %), EGFR(0.9 %), PIK3R1(0.8 %), and PTPN11(0.8 %). These genes participate in various signaling pathways (PI3K/AKT/mTOR, R …
Key Tier I genes include TP53(5 %), NRAS(2.2 %), KRAS(1.8 %), CTNNB1(1.4 %), ATM(1.3 %), CREBBP(1.2 %), JAK2 (1.1 %), PIK3CA(1 %), PTEN(1 %) …
The watch-and-wait approach for patients with juvenile myelomonocytic leukemia: results of the French cohort.
Neven Q, Arfeuille C, Caye-Eude A, Durand P, Lainey E, Fenneteau O, Nelken B, Nolla M, Sterin A, Grain A, Khouri C, Simonin M, Dourthe ME, Fahd M, Millot F, Neven B, Petit A, Chevret S, Dalle JH, Baruchel A, Cavé H, Strullu M. Neven Q, et al. Blood. 2026 Jan 22;147(4):390-401. doi: 10.1182/blood.2025029916. Blood. 2026. PMID: 40971523
Disease progression occurred in 5 patients (CBL, n = 3; NRAS, n = 1; PTPN11, n = 1), mostly within 2 years after diagnosis. Overall, in the W&W cohort, the 5-year overall and event-free survivals were 93.1% and 84.5%, respectively. ...
Disease progression occurred in 5 patients (CBL, n = 3; NRAS, n = 1; PTPN11, n = 1), mostly within 2 years after diagnosis. Overall, …
Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study.
Cappa M, Cappa M, d'Aniello F, Digilio MC, Gagliardi MG, Minotti C, Leoncini PP, Pietropoli A, Nicolucci A, Graziano G, Ubertini G. Cappa M, et al. Horm Res Paediatr. 2025;98(6):655-667. doi: 10.1159/000540092. Epub 2024 Jul 22. Horm Res Paediatr. 2025. PMID: 38964306 Free PMC article.
The most frequently detected mutations were in PTPN11 (66.3%) and SOS1 (13.9%). NS sex-specific centile curves for height, weight, body mass index, and height velocity were produced. For both sexes, the 50th percentile of height and weight for participants with NS overlapp …
The most frequently detected mutations were in PTPN11 (66.3%) and SOS1 (13.9%). NS sex-specific centile curves for height, weight, bo …
98 results