Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
The Journal Of Clinical Investigation
Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ
Publication Date: 2022-05-16
Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
Architecture of the Tuberous Sclerosis Protein Complex.
Journal Of Molecular Biology
Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G
Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.
Cell Reports
Di Nardo, Alessia A; Lenoël, Isadora I; Winden, Kellen D KD; Rühmkorf, Alina A; Modi, Meera E ME; Barrett, Lee L; Ercan-Herbst, Ebru E; Venugopal, Pooja P; Behne, Robert R; Lopes, Carla A M CAM; Kleiman, Robin J RJ; Bettencourt-Dias, Mónica M; Sahin, Mustafa M
Publication Date: 2020-06-23
Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Scientific Reports
Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
Journal Of Medical Genetics
Stradella, Agostina A; Del Valle, Jesús J; Rofes, Paula P; Feliubadaló, Lídia L; Grau Garces, Èlia È; Velasco, Àngela À; González, Sara S; Vargas, Gardenia G; Izquierdo, Ángel Á; Campos, Olga O; Tornero, Eva E; Navarro, Matilde M; Balmaña-Gelpi, Judith J; Capellá, Gabriel G; Pineda, Marta M; Brunet, Joan J; Lázaro, Conxi C
Publication Date: 2019-08
Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex.
Chinese Medical Journal
Bai, Da-Yong DY; Wang, Xu X; Zhao, Jun-Yang JY; Li, Li L; Gao, Jun J; Wang, Ning-Li NL
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
European Journal Of Human Genetics : Ejhg
Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR
Publication Date: 2015-12
Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.
Nature Cell Biology
Zhang, Jiangwei J; Kim, Jinhee J; Alexander, Angela A; Cai, Shengli S; Tripathi, Durga Nand DN; Dere, Ruhee R; Tee, Andrew R AR; Tait-Mulder, Jacqueline J; Di Nardo, Alessia A; Han, Juliette M JM; Kwiatkowski, Erica E; Dunlop, Elaine A EA; Dodd, Kayleigh M KM; Folkerth, Rebecca D RD; Faust, Phyllis L PL; Kastan, Michael B MB; Sahin, Mustafa M; Walker, Cheryl Lyn CL
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V