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Page 1
G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling.
Prentzell MT, Rehbein U, Cadena Sandoval M, De Meulemeester AS, Baumeister R, Brohée L, Berdel B, Bockwoldt M, Carroll B, Chowdhury SR, von Deimling A, Demetriades C, Figlia G; Genomics England Research Consortium; de Araujo MEG, Heberle AM, Heiland I, Holzwarth B, Huber LA, Jaworski J, Kedra M, Kern K, Kopach A, Korolchuk VI, van 't Land-Kuper I, Macias M, Nellist M, Palm W, Pusch S, Ramos Pittol JM, Reil M, Reintjes A, Reuter F, Sampson JR, Scheldeman C, Siekierska A, Stefan E, Teleman AA, Thomas LE, Torres-Quesada O, Trump S, West HD, de Witte P, Woltering S, Yordanov TE, Zmorzynska J, Opitz CA, Thedieck K. Prentzell MT, et al. Among authors: west hd. Cell. 2021 Feb 4;184(3):655-674.e27. doi: 10.1016/j.cell.2020.12.024. Epub 2021 Jan 25. Cell. 2021. PMID: 33497611 Free PMC article.
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: west hd. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Robinson PS, Thomas LE, Abascal F, Jung H, Harvey LMR, West HD, Olafsson S, Lee BCH, Coorens THH, Lee-Six H, Butlin L, Lander N, Truscott R, Sanders MA, Lensing SV, Buczacki SJA, Ten Hoopen R, Coleman N, Brunton-Sim R, Rushbrook S, Saeb-Parsy K, Lalloo F, Campbell PJ, Martincorena I, Sampson JR, Stratton MR. Robinson PS, et al. Among authors: west hd. Nat Commun. 2022 Jul 8;13(1):3949. doi: 10.1038/s41467-022-31341-0. Nat Commun. 2022. PMID: 35803914 Free PMC article.
PIGA mutations and glycosylphosphatidylinositol anchor dysregulation in polyposis-associated duodenal tumorigenesis.
Meuser E, Chang K, Walters A, Hurley JJ, West HD, Perry I, Mort M, Reyes-Uribe L, Truscott R, Jones N, Lawrence R, Jenkins G, Giles P, Dolwani S, Al-Sarireh B, Hawkes N, Short E, Williams GT, Taggart MW, Luetchford K, Lynch PM, Terlouw D, Nielsen M, Walton SJ, Latchford A, Clark SK, Sampson JR, Vilar E, Thomas LE. Meuser E, et al. Among authors: west hd. Mol Cancer Res. 2024 Mar 28. doi: 10.1158/1541-7786.MCR-23-0810. Online ahead of print. Mol Cancer Res. 2024. PMID: 38546397
Duodenal Adenomas and Cancer in MUTYH-associated Polyposis: An International Cohort Study.
Collaborative Group on Duodenal Polyposis in MAP; Thomas LE, Hurley JJ, Sanchez AA, Aznárez MR, Backman AS, Bjork J, Capella G, Clark SK, Colas C, Dekker E, Dolwani S, Ghorbanoghli Z, Gonn M, Gonzalez Romero S, Hes FJ, Jundi H, Kelland S, Latchford AR, Brito HL, Lynch PM, Meuser E, Mork ME, Mort M, Garcia MN, Nielsen M, Parc Y, Ricci MT, Saurin JC, Tuin KV, Vasen H, Vilar E, Vinet O, Vitellaro M, Walton SJ, West HD, Sampson JR. Collaborative Group on Duodenal Polyposis in MAP, et al. Among authors: west hd. Gastroenterology. 2021 Feb;160(3):952-954.e4. doi: 10.1053/j.gastro.2020.10.038. Epub 2020 Oct 31. Gastroenterology. 2021. PMID: 33130102 Free article. No abstract available.
Analyses of 7,635 Patients with Colorectal Cancer Using Independent Training and Validation Cohorts Show That rs9929218 in CDH1 Is a Prognostic Marker of Survival.
Smith CG, Fisher D, Harris R, Maughan TS, Phipps AI, Richman S, Seymour M, Tomlinson I, Rosmarin D, Kerr D, Chan AT, Peters U, Newcomb PA, Idziaszczyk S, West H, Meade A, Kaplan R, Cheadle JP. Smith CG, et al. Clin Cancer Res. 2015 Aug 1;21(15):3453-61. doi: 10.1158/1078-0432.CCR-14-3136. Epub 2015 Apr 14. Clin Cancer Res. 2015. PMID: 25873087 Free PMC article.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz MD, Maher ER. Whitworth J, et al. Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909963 Free PMC article.
Genome-wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer.
Watts K, Wills C, Madi A, Palles C, Maughan TS, Kaplan R, Al-Tassan NA, Kerr R, Kerr D, Gray V, West H, Houlston RS, Escott-Price V, Cheadle JP. Watts K, et al. Int J Cancer. 2021 Nov 1;149(9):1713-1722. doi: 10.1002/ijc.33739. Epub 2021 Jul 31. Int J Cancer. 2021. PMID: 34270794 Free article.
A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients.
Wills C, He Y, Summers MG, Lin Y, Phipps AI, Watts K, Law PJ, Al-Tassan NA, Maughan TS, Kaplan R, Houlston RS, Peters U, Newcomb PA, Chan AT, Buchanan DD, Gallinger S, Marchand LL, Pai RK, Shi Q, Alberts SR, Gray V, West HD, Escott-Price V, Dunlop MG, Cheadle JP. Wills C, et al. Among authors: west hd. Eur J Cancer. 2021 Dec;159:247-258. doi: 10.1016/j.ejca.2021.09.047. Epub 2021 Nov 15. Eur J Cancer. 2021. PMID: 34794066 Free PMC article.
40 results