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Page 1
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: diekmann y. 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.
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: diekmann y. 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. 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.
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: diekmann y. Hypertension. 2018 Feb;71(2):273-279. doi: 10.1161/HYPERTENSIONAHA.117.10491. Epub 2017 Dec 11. Hypertension. 2018. PMID: 29229744 Free PMC article.
Early farmers from across Europe directly descended from Neolithic Aegeans.
Hofmanová Z, Kreutzer S, Hellenthal G, Sell C, Diekmann Y, Díez-Del-Molino D, van Dorp L, López S, Kousathanas A, Link V, Kirsanow K, Cassidy LM, Martiniano R, Strobel M, Scheu A, Kotsakis K, Halstead P, Triantaphyllou S, Kyparissi-Apostolika N, Urem-Kotsou D, Ziota C, Adaktylou F, Gopalan S, Bobo DM, Winkelbach L, Blöcher J, Unterländer M, Leuenberger C, Çilingiroğlu Ç, Horejs B, Gerritsen F, Shennan SJ, Bradley DG, Currat M, Veeramah KR, Wegmann D, Thomas MG, Papageorgopoulou C, Burger J. Hofmanová Z, et al. Among authors: diekmann y. Proc Natl Acad Sci U S A. 2016 Jun 21;113(25):6886-91. doi: 10.1073/pnas.1523951113. Epub 2016 Jun 6. Proc Natl Acad Sci U S A. 2016. PMID: 27274049 Free PMC article.
Low Prevalence of Lactase Persistence in Bronze Age Europe Indicates Ongoing Strong Selection over the Last 3,000 Years.
Burger J, Link V, Blöcher J, Schulz A, Sell C, Pochon Z, Diekmann Y, Žegarac A, Hofmanová Z, Winkelbach L, Reyna-Blanco CS, Bieker V, Orschiedt J, Brinker U, Scheu A, Leuenberger C, Bertino TS, Bollongino R, Lidke G, Stefanović S, Jantzen D, Kaiser E, Terberger T, Thomas MG, Veeramah KR, Wegmann D. Burger J, et al. Among authors: diekmann y. Curr Biol. 2020 Nov 2;30(21):4307-4315.e13. doi: 10.1016/j.cub.2020.08.033. Epub 2020 Sep 3. Curr Biol. 2020. PMID: 32888485 Free article.
Early Neolithic genomes from the eastern Fertile Crescent.
Broushaki F, Thomas MG, Link V, López S, van Dorp L, Kirsanow K, Hofmanová Z, Diekmann Y, Cassidy LM, Díez-Del-Molino D, Kousathanas A, Sell C, Robson HK, Martiniano R, Blöcher J, Scheu A, Kreutzer S, Bollongino R, Bobo D, Davudi H, Munoz O, Currat M, Abdi K, Biglari F, Craig OE, Bradley DG, Shennan S, Veeramah K, Mashkour M, Wegmann D, Hellenthal G, Burger J. Broushaki F, et al. Among authors: diekmann y. Science. 2016 Jul 29;353(6298):499-503. doi: 10.1126/science.aaf7943. Epub 2016 Jul 14. Science. 2016. PMID: 27417496 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: diekmann y. Elife. 2019 Jun 4;8:e41517. doi: 10.7554/eLife.41517. Elife. 2019. PMID: 31159924 Free PMC article.
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: diekmann y. Sci Adv. 2020 Jun 24;6(26):eaba3231. doi: 10.1126/sciadv.aba3231. eCollection 2020 Jun. Sci Adv. 2020. PMID: 32637605 Free PMC article.
30 results