CACNA1D-Related Channelopathies: From Hypertension to Autism
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Springer International Publishing
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https://link.springer.com/content/pdf/10.1007/164_2022_626
Reference147 articles.
1. Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C, Dweik D, Jaraysa T, Rabie G, Carlson RJ, Gulsuner S, Lee MK, Avraham KB, Walsh T, King MC, Kanaan MN (2020) Genomic analysis of inherited hearing loss in the Palestinian population. Proc Natl Acad Sci U S A 117:20070–20076. https://doi.org/10.1073/pnas.2009628117
2. Akerstrom T, Willenberg HS, Cupisti K, Ip J, Backman S, Moser A, Maharjan R, Robinson B, Iwen KA, Dralle H, Volpe CD, Backdahl M, Botling J, Stalberg P, Westin G, Walz MK, Lehnert H, Sidhu S, Zedenius J, Bjorklund P, Hellman P (2015) Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas. Endocr Relat Cancer 22:735–744. https://doi.org/10.1530/ERC-15-0321
3. 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, Kusters 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 (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet 45:1055–1060. https://doi.org/10.1038/ng.2716. ng.2716 [pii]
4. Backman S, Akerstrom T, Maharjan R, Cupisti K, Willenberg HS, Hellman P, Bjorklund P (2019) RNA sequencing provides novel insights into the transcriptome of aldosterone producing adenomas. Sci Rep 9:6269. https://doi.org/10.1038/s41598-019-41525-2
5. Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nurnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nurnberg P, Striessnig J, Bolz HJ (2011) Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci 14:77–84. https://doi.org/10.1038/nn.2694. nn.2694 [pii]
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