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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: altinok 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.
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: altinok 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.
The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.
Umano A, Fang K, Qu Z, Scaglione JB, Altinok S, Treadway CJ, Wick ET, Paulakonis E, Karunanayake C, Chou S, Bardakjian TM, Gonzalez-Alegre P, Page RC, Schisler JC, Brown NG, Yan D, Scaglione KM. Umano A, et al. Among authors: altinok s. J Biol Chem. 2022 May;298(5):101899. doi: 10.1016/j.jbc.2022.101899. Epub 2022 Apr 7. J Biol Chem. 2022. PMID: 35398354 Free PMC article.
Ubiquitin ligase STUB1 destabilizes IFNγ-receptor complex to suppress tumor IFNγ signaling.
Apriamashvili G, Vredevoogd DW, Krijgsman O, Bleijerveld OB, Ligtenberg MA, de Bruijn B, Boshuizen J, Traets JJH, D'Empaire Altimari D, van Vliet A, Lin CP, Visser NL, Londino JD, Sanchez-Hodge R, Oswalt LE, Altinok S, Schisler JC, Altelaar M, Peeper DS. Apriamashvili G, et al. Among authors: altinok s. Nat Commun. 2022 Apr 8;13(1):1923. doi: 10.1038/s41467-022-29442-x. Nat Commun. 2022. PMID: 35395848 Free PMC article.
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.
Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES Jr, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. Barak T, et al. Among authors: altinok s. Nat Med. 2021 Dec;27(12):2165-2175. doi: 10.1038/s41591-021-01572-7. Epub 2021 Dec 9. Nat Med. 2021. PMID: 34887573 Free PMC article.
17 results