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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: metherell la. 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.
Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not.
Williams JL, Paudyal A, Awad S, Nicholson J, Grzesik D, Botta J, Meimaridou E, Maharaj AV, Stewart M, Tinker A, Cox RD, Metherell LA. Williams JL, et al. Among authors: metherell la. Life Sci Alliance. 2020 Mar 25;3(4):e201900593. doi: 10.26508/lsa.201900593. Print 2020 Apr. Life Sci Alliance. 2020. PMID: 32213617 Free PMC article.
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF, Metherell LA. Maudhoo A, et al. Among authors: metherell la. Endocrinol Diabetes Metab Case Rep. 2021 Sep 1;2021:21-0128. doi: 10.1530/EDM-21-0128. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2021. PMID: 34564059 Free PMC article.