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Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Mishra-Gorur K, et al. Among authors: viviano s. Proc Natl Acad Sci U S A. 2023 Apr 18;120(16):e2214997120. doi: 10.1073/pnas.2214997120. Epub 2023 Apr 12. Proc Natl Acad Sci U S A. 2023. PMID: 37043537 Free PMC article.
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability.
Deniz E, Pasha M, Guerra ME, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani SA, Medne L, Skraban C, Krantz I, Khokha MK. Deniz E, et al. Among authors: viviano s. Dev Biol. 2023 Jul;499:75-88. doi: 10.1016/j.ydbio.2023.04.006. Epub 2023 May 10. Dev Biol. 2023. PMID: 37172641 Free PMC article.
Scaffold association factor B (SAFB) is required for expression of prenyltransferases and RAS membrane association.
Zhou M, Kuruvilla L, Shi X, Viviano S, Ahearn IM, Amendola CR, Su W, Badri S, Mahaffey J, Fehrenbacher N, Skok J, Schlessinger J, Turk BE, Calderwood DA, Philips MR. Zhou M, et al. Among authors: viviano s. Proc Natl Acad Sci U S A. 2020 Dec 15;117(50):31914-31922. doi: 10.1073/pnas.2005712117. Epub 2020 Nov 30. Proc Natl Acad Sci U S A. 2020. PMID: 33257571 Free PMC article.
Loss of TRIM33 causes resistance to BET bromodomain inhibitors through MYC- and TGF-β-dependent mechanisms.
Shi X, Mihaylova VT, Kuruvilla L, Chen F, Viviano S, Baldassarre M, Sperandio D, Martinez R, Yue P, Bates JG, Breckenridge DG, Schlessinger J, Turk BE, Calderwood DA. Shi X, et al. Among authors: viviano s. Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):E4558-66. doi: 10.1073/pnas.1608319113. Epub 2016 Jul 18. Proc Natl Acad Sci U S A. 2016. PMID: 27432991 Free PMC article.
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.
Kim AH, Sakin I, Viviano S, Tuncel G, Aguilera SM, Goles G, Jeffries L, Ji W, Lakhani SA, Kose CC, Silan F, Oner SS, Kaplan OI; MarmaRare Group; Ergoren MC, Mishra-Gorur K, Gunel M, Sag SO, Temel SG, Deniz E. Kim AH, et al. Among authors: viviano s. Life Sci Alliance. 2024 Aug 21;7(10):e202402708. doi: 10.26508/lsa.202402708. Print 2024 Oct. Life Sci Alliance. 2024. PMID: 39168639 Free PMC article.
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.
Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Encicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Mishra-Gorur K, et al. Among authors: viviano s. Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2319578121. doi: 10.1073/pnas.2319578121. Epub 2024 Mar 11. Proc Natl Acad Sci U S A. 2024. PMID: 38466853 Free PMC article. No abstract available.
Role of Ribeye PXDLS/T-binding cleft in normal synaptic ribbon function.
Zhu J, Lv C, Henry D, Viviano S, Santos-Sacchi J, Matthews G, Zenisek D. Zhu J, et al. Among authors: viviano s. bioRxiv [Preprint]. 2023 Dec 12:2023.12.12.571266. doi: 10.1101/2023.12.12.571266. bioRxiv. 2023. PMID: 38168344 Free PMC article. Preprint.
27 results