577 related articles for article (PubMed ID: 29478616)
21. A reliable cell-based assay for testing unclassified TSC2 gene variants.
Coevoets R; Arican S; Hoogeveen-Westerveld M; Simons E; van den Ouweland A; Halley D; Nellist M
Eur J Hum Genet; 2009 Mar; 17(3):301-10. PubMed ID: 18854862
[TBL] [Abstract][Full Text] [Related]
22. Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.
Cao J; Tyburczy ME; Moss J; Darling TN; Widlund HR; Kwiatkowski DJ
J Clin Invest; 2017 Jan; 127(1):349-364. PubMed ID: 27918305
[TBL] [Abstract][Full Text] [Related]
23. The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions.
Curatolo P; Bjørnvold M; Dill PE; Ferreira JC; Feucht M; Hertzberg C; Jansen A; Jóźwiak S; Kingswood JC; Kotulska K; Macaya A; Moavero R; Nabbout R; Zonnenberg BA
Drugs; 2016 Apr; 76(5):551-65. PubMed ID: 26927950
[TBL] [Abstract][Full Text] [Related]
24. Tuberous sclerosis complex.
DiMario FJ; Sahin M; Ebrahimi-Fakhari D
Pediatr Clin North Am; 2015 Jun; 62(3):633-48. PubMed ID: 26022167
[TBL] [Abstract][Full Text] [Related]
25. Tuberous sclerosis: a review of the past, present, and future.
Uysal SP; Şahin M
Turk J Med Sci; 2020 Nov; 50(SI-2):1665-1676. PubMed ID: 32222129
[TBL] [Abstract][Full Text] [Related]
26. Establishment of Tsc2‑deficient rat embryonic stem cells.
Ito Y; Kawano H; Kanai F; Nakamura E; Tada N; Takai S; Horie S; Arai H; Kobayashi T; Hino O
Int J Oncol; 2015 May; 46(5):1944-52. PubMed ID: 25738543
[TBL] [Abstract][Full Text] [Related]
27. A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.
Fu J; Liang P; Zheng Y; Xu C; Xiong F; Yang F
Gene; 2024 May; 909():148312. PubMed ID: 38412945
[TBL] [Abstract][Full Text] [Related]
28. Possible prevention of tuberous sclerosis complex lesions.
Kotulska K; Borkowska J; Jozwiak S
Pediatrics; 2013 Jul; 132(1):e239-42. PubMed ID: 23733802
[TBL] [Abstract][Full Text] [Related]
29. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
Mozaffari M; Hoogeveen-Westerveld M; Kwiatkowski D; Sampson J; Ekong R; Povey S; den Dunnen JT; van den Ouweland A; Halley D; Nellist M
BMC Med Genet; 2009 Sep; 10():88. PubMed ID: 19747374
[TBL] [Abstract][Full Text] [Related]
30. The tuberous sclerosis complex.
Orlova KA; Crino PB
Ann N Y Acad Sci; 2010 Jan; 1184():87-105. PubMed ID: 20146692
[TBL] [Abstract][Full Text] [Related]
31. Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders.
Ehninger D; Silva AJ
Trends Mol Med; 2011 Feb; 17(2):78-87. PubMed ID: 21115397
[TBL] [Abstract][Full Text] [Related]
32. Treatment of tuberous sclerosis complex manifestations in children with mTOR inhibitors.
Yeşil Ş; Kurucu B; Hamamcı MB; Yılmaz Ş; Şahin G
Childs Nerv Syst; 2024 Mar; 40(3):831-837. PubMed ID: 37947859
[TBL] [Abstract][Full Text] [Related]
33. Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis.
Franz DN
Expert Rev Anticancer Ther; 2011 Aug; 11(8):1181-92. PubMed ID: 21916571
[TBL] [Abstract][Full Text] [Related]
34. Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease.
Astrinidis A; Henske EP
Oncogene; 2005 Nov; 24(50):7475-81. PubMed ID: 16288294
[TBL] [Abstract][Full Text] [Related]
35. Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor.
Dhamne SC; Modi ME; Gray A; Bonazzi S; Craig L; Bainbridge E; Lalani L; Super CE; Schaeffer S; Capre K; Lubicka D; Liang G; Burdette D; McTighe SM; Gurnani S; Vermudez SAD; Curtis D; Wilson CJ; Hameed MQ; D'Amore A; Rotenberg A; Sahin M
Ann Clin Transl Neurol; 2023 Oct; 10(10):1790-1801. PubMed ID: 37545094
[TBL] [Abstract][Full Text] [Related]
36. Cerebral vascular and blood brain-barrier abnormalities in a mouse model of epilepsy and tuberous sclerosis complex.
Guo D; Zhang B; Han L; Rensing NR; Wong M
Epilepsia; 2024 Feb; 65(2):483-496. PubMed ID: 38049961
[TBL] [Abstract][Full Text] [Related]
37. [Autism, epilepsy and tuberous sclerosis complex: a functional model linked to mTOR pathway].
García-Peñas JJ; Carreras-Sááez I
Rev Neurol; 2013 Feb; 56 Suppl 1():S153-61. PubMed ID: 23446718
[TBL] [Abstract][Full Text] [Related]
38. Updated Genotype-Phenotype Correlations in TSC.
Curatolo P; Trivisano M; Specchio N
Semin Pediatr Neurol; 2023 Oct; 47():101086. PubMed ID: 37919037
[TBL] [Abstract][Full Text] [Related]
39. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Rendtorff ND; Bjerregaard B; Frödin M; Kjaergaard S; Hove H; Skovby F; Brøndum-Nielsen K; Schwartz M;
Hum Mutat; 2005 Oct; 26(4):374-83. PubMed ID: 16114042
[TBL] [Abstract][Full Text] [Related]
40. Tuberous sclerosis: from tubers to mTOR.
Kwiatkowski DJ
Ann Hum Genet; 2003 Jan; 67(Pt 1):87-96. PubMed ID: 12556239
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]