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653 results

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Page 1
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto EM, Figueiredo BC, Chen W, Galvao HCR, Formiga MN, Fragoso MCBV, Ashton-Prolla P, Ribeiro EMSF, Felix G, Costa TEB, Savage SA, Yeager M, Palmero EI, Volc S, Salvador H, Fuster-Soler JL, Lavarino C, Chantada G, Vaur D, Odone-Filho V, Brugières L, Else T, Stoffel EM, Maxwell KN, Achatz MI, Kowalski L, de Andrade KC, Pappo A, Letouze E, Latronico AC, Mendonca BB, Almeida MQ, Brondani VB, Bittar CM, Soares EWS, Mathias C, Ramos CRN, Machado M, Zhou W, Jones K, Vogt A, Klincha PP, Santiago KM, Komechen H, Paraizo MM, Parise IZS, Hamilton KV, Wang J, Rampersaud E, Clay MR, Murphy AJ, Lalli E, Nichols KE, Ribeiro RC, Rodriguez-Galindo C, Korbonits M, Zhang J, Thomas MG, Connelly JP, Pruett-Miller S, Diekmann Y, Neale G, Wu G, Zambetti GP. Pinto EM, et al. Among authors: thomas mg. Sci Adv. 2020 Jun 24;6(26):eaba3231. doi: 10.1126/sciadv.aba3231. eCollection 2020 Jun. Sci Adv. 2020. PMID: 32637605 Free PMC article.
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.
Salvatori R, Radian S, Diekmann Y, Iacovazzo D, David A, Gabrovska P, Grassi G, Bussell AM, Stals K, Weber A, Quinton R, Crowne EC, Corazzini V, Metherell L, Kearney T, Du Plessis D, Sinha AK, Baborie A, Lecoq AL, Chanson P, Ansorge O, Ellard S, Trainer PJ, Balding D, Thomas MG, Korbonits M. Salvatori R, et al. Among authors: thomas mg. Eur J Endocrinol. 2017 Sep;177(3):257-266. doi: 10.1530/EJE-17-0293. Epub 2017 Jun 20. Eur J Endocrinol. 2017. PMID: 28634279 Free PMC article.
Accurate age estimation in small-scale societies.
Diekmann Y, Smith D, Gerbault P, Dyble M, Page AE, Chaudhary N, Migliano AB, Thomas MG. Diekmann Y, et al. Among authors: thomas mg. Proc Natl Acad Sci U S A. 2017 Aug 1;114(31):8205-8210. doi: 10.1073/pnas.1619583114. Epub 2017 Jul 10. Proc Natl Acad Sci U S A. 2017. PMID: 28696282 Free PMC article.
Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism.
Fumagalli M, Camus SM, Diekmann Y, Burke A, Camus MD, Norman PJ, Joseph A, Abi-Rached L, Benazzo A, Rasteiro R, Mathieson I, Topf M, Parham P, Thomas MG, Brodsky FM. Fumagalli M, et al. Among authors: thomas mg. Elife. 2019 Jun 4;8:e41517. doi: 10.7554/eLife.41517. Elife. 2019. PMID: 31159924 Free PMC article.
AIP mutation in pituitary adenomas in the 18th century and today.
Chahal HS, Stals K, Unterländer M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA, Levy MJ, Orme SM, Akker SA, Abel RL, Grossman AB, Burger J, Ellard S, Korbonits M. Chahal HS, et al. Among authors: thomas mg. N Engl J Med. 2011 Jan 6;364(1):43-50. doi: 10.1056/NEJMoa1008020. N Engl J Med. 2011. PMID: 21208107 Free article.
Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor.
Pagani L, Diekmann Y, Sazzini M, De Fanti S, Rondinelli M, Farnetti E, Casali B, Caretto A, Novara F, Zuffardi O, Garagnani P, Mantero F, Thomas MG, Luiselli D, Rossi E. Pagani L, et al. Among authors: thomas mg. Hypertension. 2018 Feb;71(2):273-279. doi: 10.1161/HYPERTENSIONAHA.117.10491. Epub 2017 Dec 11. Hypertension. 2018. PMID: 29229744 Free PMC article.
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell AM, McGurren K, Cuesta M, Ryan AW, Herincs M, Hernández-Ramírez LC, Holland A, Samuels J, Aflorei ED, Barry S, Dénes J, Pernicova I, Stiles CE, Trivellin G, McCloskey R, Ajzensztejn M, Abid N, Akker SA, Mercado M, Cohen M, Thakker RV, Baldeweg S, Barkan A, Musat M, Levy M, Orme SM, Unterländer M, Burger J, Kumar AV, Ellard S, McPartlin J, McManus R, Linden GJ, Atkinson B, Balding DJ, Agha A, Thompson CJ, Hunter SJ, Thomas MG, Morrison PJ, Korbonits M. Radian S, et al. Among authors: thomas mg. Hum Mutat. 2017 Jan;38(1):78-85. doi: 10.1002/humu.23121. Epub 2016 Oct 4. Hum Mutat. 2017. PMID: 27650164 Free PMC article.
Author Correction: Ancient genomes indicate population replacement in Early Neolithic Britain.
Brace S, Diekmann Y, Booth TJ, van Dorp L, Faltyskova Z, Rohland N, Mallick S, Olalde I, Ferry M, Michel M, Oppenheimer J, Broomandkhoshbacht N, Stewardson K, Martiniano R, Walsh S, Kayser M, Charlton S, Hellenthal G, Armit I, Schulting R, Craig OE, Sheridan A, Pearson MP, Stringer C, Reich D, Thomas MG, Barnes I. Brace S, et al. Among authors: thomas mg. Nat Ecol Evol. 2019 Jun;3(6):986-987. doi: 10.1038/s41559-019-0912-4. Nat Ecol Evol. 2019. PMID: 31068681
653 results