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Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T, Tops B, Küsters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P, Brown MJ. Azizan EA, et al. Among authors: solar m. Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4. Nat Genet. 2013. PMID: 23913004
Aldosterone-Producing Adenomas: Histopathology-Genotype Correlation and Identification of a Novel CACNA1D Mutation.
Tan GC, Negro G, Pinggera A, Tizen Laim NMS, Mohamed Rose I, Ceral J, Ryska A, Chin LK, Kamaruddin NA, Mohd Mokhtar N, A Jamal AR, Sukor N, Solar M, Striessnig J, Brown MJ, Azizan EA. Tan GC, et al. Among authors: solar m. Hypertension. 2017 Jul;70(1):129-136. doi: 10.1161/HYPERTENSIONAHA.117.09057. Epub 2017 Jun 5. Hypertension. 2017. PMID: 28584016
Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.
Wu X, Azizan EAB, Goodchild E, Garg S, Hagiyama M, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Kuan JL, Tiang Z, David A, Murakami M, Mein CA, Wozniak E, Zhao W, Marker A, Buss F, Saleeb RS, Salsbury J, Tezuka Y, Satoh F, Oki K, Udager AM, Cohen DL, Wachtel H, King PJ, Drake WM, Gurnell M, Ceral J, Ryska A, Mustangin M, Wong YP, Tan GC, Solar M, Reincke M, Rainey WE, Foo RS, Takaoka Y, Murray SA, Zennaro MC, Beuschlein F, Ito A, Brown MJ. Wu X, et al. Among authors: solar m. Nat Genet. 2023 Jun;55(6):1009-1021. doi: 10.1038/s41588-023-01403-0. Epub 2023 Jun 8. Nat Genet. 2023. PMID: 37291193 Free PMC article.
335 results