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Page 1
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP. Scholl UI, et al. Among authors: hellman p. Nat Genet. 2013 Sep;45(9):1050-4. doi: 10.1038/ng.2695. Epub 2013 Aug 4. Nat Genet. 2013. PMID: 23913001 Free PMC article.
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Åkerström G, Wang W, Carling T, Lifton RP. Choi M, et al. Among authors: hellman p. Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785. Science. 2011. PMID: 21311022 Free PMC article.
Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.
Åkerström T, Crona J, Delgado Verdugo A, Starker LF, Cupisti K, Willenberg HS, Knoefel WT, Saeger W, Feller A, Ip J, Soon P, Anlauf M, Alesina PF, Schmid KW, Decaussin M, Levillain P, Wängberg B, Peix JL, Robinson B, Zedenius J, Bäckdahl M, Caramuta S, Iwen KA, Botling J, Stålberg P, Kraimps JL, Dralle H, Hellman P, Sidhu S, Westin G, Lehnert H, Walz MK, Åkerström G, Carling T, Choi M, Lifton RP, Björklund P. Åkerström T, et al. Among authors: hellman p. PLoS One. 2012;7(7):e41926. doi: 10.1371/journal.pone.0041926. Epub 2012 Jul 27. PLoS One. 2012. PMID: 22848660 Free PMC article.
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Akerström G, Björklund P, Carling T, Lifton RP. Goh G, et al. Among authors: hellman p. Nat Genet. 2014 Jun;46(6):613-7. doi: 10.1038/ng.2956. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747643 Free PMC article.
Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.
Cromer MK, Choi M, Nelson-Williams C, Fonseca AL, Kunstman JW, Korah RM, Overton JD, Mane S, Kenney B, Malchoff CD, Stalberg P, Akerström G, Westin G, Hellman P, Carling T, Björklund P, Lifton RP. Cromer MK, et al. Among authors: hellman p. Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):4062-7. doi: 10.1073/pnas.1503696112. Epub 2015 Mar 18. Proc Natl Acad Sci U S A. 2015. PMID: 25787250 Free PMC article.
Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors.
Fonseca AL, Kugelberg J, Starker LF, Scholl U, Choi M, Hellman P, Åkerström G, Westin G, Lifton RP, Björklund P, Carling T. Fonseca AL, et al. Among authors: hellman p. Genes Chromosomes Cancer. 2012 Oct;51(10):949-60. doi: 10.1002/gcc.21978. Epub 2012 Jun 26. Genes Chromosomes Cancer. 2012. PMID: 22733721
Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas.
Åkerström T, Willenberg HS, Cupisti K, Ip J, Backman S, Moser A, Maharjan R, Robinson B, Iwen KA, Dralle H, D Volpe C, Bäckdahl M, Botling J, Stålberg P, Westin G, Walz MK, Lehnert H, Sidhu S, Zedenius J, Björklund P, Hellman P. Åkerström T, et al. Among authors: hellman p. Endocr Relat Cancer. 2015 Oct;22(5):735-44. doi: 10.1530/ERC-15-0321. Endocr Relat Cancer. 2015. PMID: 26285814
Aldosterone-Producing Adenomas.
Hellman P, Björklund P, Åkerström T. Hellman P, et al. Vitam Horm. 2019;109:407-431. doi: 10.1016/bs.vh.2018.10.007. Epub 2019 Jan 8. Vitam Horm. 2019. PMID: 30678866
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O'Toole S, Goodchild E, Marker A, Senanayake R, Garg S, Åkerström T, Backman S, Jordan S, Polubothu S, Berney DM, Gluck A, Lines KE, Thakker RV, Tuthill A, Joyce C, Kaski JP, Karet Frankl FE, Metherell LA, Teo AED, Gurnell M, Parvanta L, Drake WM, Wozniak E, Klinzing D, Kuan JL, Tiang Z, Gomez Sanchez CE, Hellman P, Foo RSY, Mein CA, Kinsler VA, Björklund P, Storr HL, Zennaro MC, Brown MJ. Zhou J, et al. Among authors: hellman p. Nat Genet. 2021 Sep;53(9):1360-1372. doi: 10.1038/s41588-021-00906-y. Epub 2021 Aug 12. Nat Genet. 2021. PMID: 34385710 Free PMC article.
215 results