Publications:

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TSC1: L117P

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TSC1: L117P

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients.

The Embo Journal

Woodford, Mark R MR; Sager, Rebecca A RA; Marris, Elijah E; Dunn, Diana M DM; Blanden, Adam R AR; Murphy, Ryan L RL; Rensing, Nicholas N; Shapiro, Oleg O; Panaretou, Barry B; Prodromou, Chrisostomos C; Loh, Stewart N SN; Gutmann, David H DH; Bourboulia, Dimitra D; Bratslavsky, Gennady G; Wong, Michael M; Mollapour, Mehdi M

Publication Date: 2017-12-15

Variant appearance in text: TSC1: L117P

PubMed Link: 29127155

Variant Present in the following documents:

• EMBJ-36-3650-s002.pdf
• EMBJ-36-3650-s001.pdf
• EMBJ-36-3650-s010.pdf

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Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

European Journal Of Human Genetics : Ejhg

Overwater, Iris E IE; Swenker, Rob R; van der Ende, Emma L EL; Hanemaayer, Kimberley Bm KB; Hoogeveen-Westerveld, Marianne M; van Eeghen, Agnies M AM; Lequin, Maarten H MH; van den Ouweland, Ans Mw AM; Moll, Henriëtte A HA; Nellist, Mark M; de Wit, Marie-Claire Y MY

Publication Date: 2016-12

Variant appearance in text: TSC1: 350T>C; L117P

PubMed Link: 27406250

Variant Present in the following documents:

• Main text

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Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.

Plos One

Santiago Lima, Arthur Jorge AJ; Hoogeveen-Westerveld, Marianne M; Nakashima, Akio A; Maat-Kievit, Anneke A; van den Ouweland, Ans A; Halley, Dicky D; Kikkawa, Ushio U; Nellist, Mark M

Publication Date: 2014

Variant appearance in text: TSC1: L117P

PubMed Link: 24714658

Variant Present in the following documents:

• Main text
• pone.0093940.pdf

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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

Publication Date: 2013-03-20

Variant appearance in text: TSC1: L117P

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.

Bmc Medical Genetics

Mozaffari, Melika M; Hoogeveen-Westerveld, Marianne M; Kwiatkowski, David D; Sampson, Julian J; Ekong, Rosemary R; Povey, Sue S; den Dunnen, Johan T JT; van den Ouweland, Ans A; Halley, Dicky D; Nellist, Mark M

Publication Date: 2009-09-11

Variant appearance in text: TSC1: L117P

PubMed Link: 19747374

Variant Present in the following documents:

• Main text
• 1471-2350-10-88.pdf

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Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

European Journal Of Human Genetics : Ejhg

Nellist, Mark M; van den Heuvel, Diana D; Schluep, Diane D; Exalto, Carla C; Goedbloed, Miriam M; Maat-Kievit, Anneke A; van Essen, Ton T; van Spaendonck-Zwarts, Karin K; Jansen, Floor F; Helderman, Paula P; Bartalini, Gabriella G; Vierimaa, Outi O; Penttinen, Maila M; van den Ende, Jenneke J; van den Ouweland, Ans A; Halley, Dicky D

Publication Date: 2009-03

Variant appearance in text: TSC1: 350T>C; L117P

PubMed Link: 18830229

Variant Present in the following documents:

• Main text

View BVdb publication page

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