Detalhe da pesquisa
1.
G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling.
Cell
; 184(3): 655-674.e27, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33497611
2.
TSC1 binding to lysosomal PIPs is required for TSC complex translocation and mTORC1 regulation.
Mol Cell
; 81(13): 2705-2721.e8, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974911
3.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669495
4.
RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.
PLoS Biol
; 19(5): e3001279, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038402
5.
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
PLoS Genet
; 17(7): e1009651, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34197453
6.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Hum Mutat
; 43(12): 2130-2140, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251260
7.
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Mod Pathol
; 34(2): 264-279, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051600
8.
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.
Hum Mutat
; 41(4): 759-773, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799751
9.
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.
Genet Med
; 22(5): 889-897, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015538
10.
Biallelic TSC2 Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to Temsirolimus.
J Natl Compr Canc Netw
; 16(4): 352-358, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29632054
11.
Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).
J Biol Chem
; 291(16): 8591-601, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26893383
12.
TSC2 N-terminal lysine acetylation status affects to its stability modulating mTORC1 signaling and autophagy.
Biochim Biophys Acta
; 1863(11): 2658-2667, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27542907
13.
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Am J Med Genet A
; 173(3): 771-775, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28211972
14.
Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.
Croat Med J
; 58(6): 416-423, 2017 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29308833
15.
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Hum Mutat
; 37(4): 364-70, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26703369
16.
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.
Hum Mutat
; 36(2): 200-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25366275
17.
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
Mol Genet Metab
; 114(3): 467-73, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25523067
18.
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
BMC Med Genet
; 16: 10, 2015 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25927202
19.
Tubers from patients with tuberous sclerosis complex are characterized by changes in microtubule biology through ROCK2 signalling.
J Pathol
; 233(3): 247-57, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24604753
20.
Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma.
Mod Pathol
; 27(10): 1321-30, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24633195