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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: bilguvar k. 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: bilguvar k. 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.
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. Bilguvar K, et al. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3489-94. doi: 10.1073/pnas.1222732110. Epub 2013 Jan 28. Proc Natl Acad Sci U S A. 2013. PMID: 23359680 Free PMC article.
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.
Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. Vilarinho S, et al. Among authors: bilguvar k. Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11289-11293. doi: 10.1073/pnas.1613228113. Epub 2016 Sep 19. Proc Natl Acad Sci U S A. 2016. PMID: 27647924 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: bilguvar k. 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.
Mutation spectrum of congenital heart disease in a consanguineous Turkish population.
Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan-Sencicek AG, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Dong W, et al. Among authors: bilguvar k. Mol Genet Genomic Med. 2022 Jun;10(6):e1944. doi: 10.1002/mgg3.1944. Epub 2022 Apr 28. Mol Genet Genomic Med. 2022. PMID: 35481623 Free PMC article.
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.
Timberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A; Yale Center for Genome Analysis; Steinbacher DM, Larysz D, Staffenberg DA, Flores RL, Rodriguez ED, Boggon TJ, Persing JA, Lifton RP. Timberlake AT, et al. Proc Natl Acad Sci U S A. 2019 Jul 23;116(30):15116-15121. doi: 10.1073/pnas.1902041116. Epub 2019 Jul 10. Proc Natl Acad Sci U S A. 2019. PMID: 31292255 Free PMC article.
Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk.
Yasuno K, Bakırcıoğlu M, Low SK, Bilgüvar K, Gaál E, Ruigrok YM, Niemelä M, Hata A, Bijlenga P, Kasuya H, Jääskeläinen JE, Krex D, Auburger G, Simon M, Krischek B, Ozturk AK, Mane S, Rinkel GJ, Steinmetz H, Hernesniemi J, Schaller K, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Yasuno K, et al. Among authors: bilguvar k. Proc Natl Acad Sci U S A. 2011 Dec 6;108(49):19707-12. doi: 10.1073/pnas.1117137108. Epub 2011 Nov 21. Proc Natl Acad Sci U S A. 2011. PMID: 22106312 Free PMC article.
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.
Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avşar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yilmaz B, Grady C, Tanrikulu B, Bakircioğlu M, Kaymakçalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai H, Kolb LE, Hebert RM, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilgüvar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kiliç T, Lifton RP, Noonan JP, Yasuno K, Günel M. Clark VE, et al. Among authors: bilguvar k. Science. 2013 Mar 1;339(6123):1077-80. doi: 10.1126/science.1233009. Epub 2013 Jan 24. Science. 2013. PMID: 23348505 Free PMC article.
157 results