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2022 5
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mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.
Gerasimenko A, Baldassari S, Baulac S. Gerasimenko A, et al. Neurobiol Dis. 2023 Jun 15;182:106144. doi: 10.1016/j.nbd.2023.106144. Epub 2023 May 4. Neurobiol Dis. 2023. PMID: 37149062 Free article. Review.
The spectrum of cortical dysplasia results from somatic brain mutations in the mTOR pathway activators AKT3, MTOR, PIK3CA, and RHEB and from germline and somatic mutations in mTOR pathway repressors, DEPDC5, NPRL2, NPRL3, TSC1 and TSC2. The mTORopathies are characterized b …
The spectrum of cortical dysplasia results from somatic brain mutations in the mTOR pathway activators AKT3, MTOR, PIK3CA, and RHEB and from …
TSC2/PKD1 Contiguous Gene Deletion Syndrome.
Arredondo Montero J, Bronte Anaut M, Velayos M, Sarmiento MDC, Ramírez Amorós C, López-Pereira P. Arredondo Montero J, et al. Clin Pediatr (Phila). 2024 Mar;63(3):411-413. doi: 10.1177/00099228231173911. Epub 2023 May 12. Clin Pediatr (Phila). 2024. PMID: 37173860 No abstract available.
Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Klonowska K, Giannikou K, Grevelink JM, Boeszoermenyi B, Thorner AR, Herbert ZT, Afrin A, Treichel AM, Hamieh L, Kotulska K, Jozwiak S, Moss J, Darling TN, Kwiatkowski DJ. Klonowska K, et al. Am J Hum Genet. 2023 Jun 1;110(6):979-988. doi: 10.1016/j.ajhg.2023.04.002. Epub 2023 May 3. Am J Hum Genet. 2023. PMID: 37141891 Free PMC article.
The mosaic variant allele frequency (VAF) is significantly higher in TSC1 than in TSC2, in both blood and saliva (median VAF: TSC1, 4.91%; TSC2, 1.93%; p = 0.036) and facial angiofibromas (median VAF: TSC1, 7.7%; TSC2 3.7%; p = 0.004), while the number of TSC …
The mosaic variant allele frequency (VAF) is significantly higher in TSC1 than in TSC2, in both blood and saliva (median VAF: TSC1, 4 …
Updated Genotype-Phenotype Correlations in TSC.
Curatolo P, Trivisano M, Specchio N. Curatolo P, et al. Semin Pediatr Neurol. 2023 Oct;47:101086. doi: 10.1016/j.spen.2023.101086. Epub 2023 Sep 18. Semin Pediatr Neurol. 2023. PMID: 37919037 Review.
TSC is caused by the mutation in one of the 2 genes TSC1, at 9q34, and TSC2, at 16p13.3. They respectively encode for hamartin and tuberin, which form an intracellular complex inhibiting the mammalian target of rapamycin. ...This review confirms that patients with TSC2 …
TSC is caused by the mutation in one of the 2 genes TSC1, at 9q34, and TSC2, at 16p13.3. They respectively encode for hamartin and tu …
SMYD3 Modulates AMPK-mTOR Signaling Balance in Cancer Cell Response to DNA Damage.
Lepore Signorile M, Sanese P, Di Nicola E, Fasano C, Forte G, De Marco K, Disciglio V, Latrofa M, Pantaleo A, Varchi G, Del Rio A, Grossi V, Simone C. Lepore Signorile M, et al. Cells. 2023 Nov 17;12(22):2644. doi: 10.3390/cells12222644. Cells. 2023. PMID: 37998381 Free PMC article.
After DNA double-strand breakage, ATM, a core component of the DNA repair system, activates the AMPK-TSC2 pathway, leading to the inhibition of the mTOR cascade. Recently, we showed that both AMPK and mTOR interact with SMYD3, a methyltransferase involved in DNA damage res …
After DNA double-strand breakage, ATM, a core component of the DNA repair system, activates the AMPK-TSC2 pathway, leading to the inh …
TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas.
Giannikou K, Klonowska K, Tsuji J, Wu S, Zhu Z, Probst CK, Kao KZ, Wu CL, Rodig S, Marino-Enriquez A, Zen Y, Schaefer IM, Kwiatkowski DJ. Giannikou K, et al. Histopathology. 2023 Oct;83(4):569-581. doi: 10.1111/his.15005. Epub 2023 Sep 7. Histopathology. 2023. PMID: 37679051
AIMS: Although TSC1 or TSC2 inactivating mutations that lead to mTORC1 hyperactivation have been reported in hepatic angiomyolipomas (hAML), the role of other somatic genetic events that may contribute to hAML development is unknown. ...Inactivating somatic variants in …
AIMS: Although TSC1 or TSC2 inactivating mutations that lead to mTORC1 hyperactivation have been reported in hepatic angiomyolipomas …
Genetic insights into thymic carcinomas and thymic neuroendocrine neoplasms denote prognosis signatures and pathways.
Wang S, Gu Z, Zhu L, Han Y, Yu H, Fang W, Han B. Wang S, et al. Chin Med J (Engl). 2023 Nov 20;136(22):2712-2721. doi: 10.1097/CM9.0000000000002852. Epub 2023 Sep 25. Chin Med J (Engl). 2023. PMID: 37749819 Free PMC article.
The genetic alterations that ranked highest in TCs were in CDKN2A, TP53, ASXL1, CDKN2B, PIK3C2G, PTCH1, and ROS1 , while those in TNENs were in MEN1, MLL2, APC, RB1 , and TSC2 . Prognostic analysis showed that mutations of ROS1, CDKN2A, CDKN2B, BRAF, and BAP1 were signific …
The genetic alterations that ranked highest in TCs were in CDKN2A, TP53, ASXL1, CDKN2B, PIK3C2G, PTCH1, and ROS1 , while those in TNENs were …
The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.
Liu M, Li N, Tang H, Chen L, Liu X, Wang Y, Lin Y, Luo Y, Wei S, Wen W, Chen M, Wang J, Zhang N, Chen J. Liu M, et al. Oncologist. 2023 Sep 7;28(9):e723-e736. doi: 10.1093/oncolo/oyad093. Oncologist. 2023. PMID: 37086484 Free PMC article.
Notably, we identified a 7-gene panel (MLH3, NACA, NOTCH1, NPAP1, RANBP17, TSC2, and ZFHX4) as a novel prognostic signature in NENs; patients who carried mutations in any of the 7 genes exhibited significantly poorer survival. ...
Notably, we identified a 7-gene panel (MLH3, NACA, NOTCH1, NPAP1, RANBP17, TSC2, and ZFHX4) as a novel prognostic signature in NENs; …
103 results