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Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis.
Smith AL, Whitehall JC, Bradshaw C, Gay D, Robertson F, Blain AP, Hudson G, Pyle A, Houghton D, Hunt M, Sampson JN, Stamp C, Mallett G, Amarnath S, Leslie J, Oakley F, Wilson L, Baker A, Russell OM, Johnson R, Richardson CA, Gupta B, McCallum I, McDonald SA, Kelly S, Mathers JC, Heer R, Taylor RW, Perkins ND, Turnbull DM, Sansom OJ, Greaves LC. Smith AL, et al. Among authors: sampson jn. Nat Cancer. 2020 Oct;1(10):976-989. doi: 10.1038/s43018-020-00112-5. Epub 2020 Sep 21. Nat Cancer. 2020. PMID: 33073241 Free PMC article.
Author Correction: Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis.
Smith ALM, Whitehall JC, Bradshaw C, Gay D, Robertson F, Blain AP, Hudson G, Pyle A, Houghton D, Hunt M, Sampson JN, Stamp C, Mallett G, Amarnath S, Leslie J, Oakley F, Wilson L, Baker A, Russell OM, Johnson R, Richardson CA, Gupta B, McCallum I, McDonald SAC, Kelly S, Mathers JC, Heer R, Taylor RW, Perkins ND, Turnbull DM, Sansom OJ, Greaves LC. Smith ALM, et al. Among authors: sampson jn. Nat Cancer. 2021 Jan;2(1):129. doi: 10.1038/s43018-020-00156-7. Nat Cancer. 2021. PMID: 35121898 No abstract available.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.
Møller P, Haupt S, Ahadova A, Kloor M, Sampson JR, Sunde L, Seppälä T, Burn J, Bernstein I, Capella G, Evans DG, Lindblom A, Winship I, Macrae F, Katz L, Laish I, Vainer E, Monahan K, Half E, Horisberger K, da Silva LA, Heuveline V, Therkildsen C, Lautrup C, Klarskov LL, Cavestro GM, Möslein G, Hovig E, Dominguez-Valentin M. Møller P, et al. Among authors: sampson jr. Hered Cancer Clin Pract. 2024 May 13;22(1):6. doi: 10.1186/s13053-024-00279-3. Hered Cancer Clin Pract. 2024. PMID: 38741120 Free PMC article.
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
Zaffaroni G, Mannucci A, Koskenvuo L, de Lacy B, Maffioli A, Bisseling T, Half E, Cavestro GM, Valle L, Ryan N, Aretz S, Brown K, Buttitta F, Carneiro F, Claber O, Blanco-Colino R, Collard M, Crosbie E, Cunha M, Doulias T, Fleming C, Heinrich H, Hüneburg R, Metras J, Nagtegaal I, Negoi I, Nielsen M, Pellino G, Ricciardiello L, Sagir A, Sánchez-Guillén L, Seppälä TT, Siersema P, Striebeck B, Sampson JR, Latchford A, Parc Y, Burn J, Möslein G. Zaffaroni G, et al. Among authors: sampson jr. Br J Surg. 2024 May 3;111(5):znae070. doi: 10.1093/bjs/znae070. Br J Surg. 2024. PMID: 38722804 Free PMC article.
Robust prediction of relative binding energies for protein-protein complex mutations using free energy perturbation calculations.
Sampson JM, Cannon DA, Duan J, Epstein JCK, Sergeeva AP, Katsamba PS, Mannepalli SM, Bahna FA, Adihou H, Guéret SM, Gopalakrishnan R, Geschwindner S, Rees DG, Sigurdardottir A, Wilkinson T, Dodd RB, De Maria L, Mobarec JC, Shapiro L, Honig B, Buchanan A, Friesner RA, Wang L. Sampson JM, et al. bioRxiv [Preprint]. 2024 Apr 24:2024.04.22.590325. doi: 10.1101/2024.04.22.590325. bioRxiv. 2024. PMID: 38712280 Free PMC article. Preprint.
Trends in mortality in people with HIV from 1999 to 2020: a multi-cohort collaboration.
Tusch E, Ryom L, Pelchen-Matthews A, Mocroft A, Elbirt D, Oprea C, Günthard HF, Staehelin C, Zangerle R, Suarez I, Vehreschild JJ, Wit F, Menozzi M, d'Arminio Monforte A, Spagnuolo V, Pradier C, Carlander C, Suanzes P, Wasmuth JC, Carr A, Petoumenos K, Borgans F, Bonnet F, De Wit S, El-Sadr W, Neesgaard B, Jaschinski N, Greenberg L, Hosein SR, Gallant J, Vannappagari V, Young L, Sabin C, Lundgren J, Peters L, Reekie J; D:A:D cohort study; RESPOND cohort study. Tusch E, et al. Clin Infect Dis. 2024 Apr 26:ciae228. doi: 10.1093/cid/ciae228. Online ahead of print. Clin Infect Dis. 2024. PMID: 38663013
1,527 results