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PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation.
Gulluni F, Prever L, Li H, Krafcikova P, Corrado I, Lo WT, Margaria JP, Chen A, De Santis MC, Cnudde SJ, Fogerty J, Yuan A, Massarotti A, Sarijalo NT, Vadas O, Williams RL, Thelen M, Powell DR, Schueler M, Wiesener MS, Balla T, Baris HN, Tiosano D, McDermott BM Jr, Perkins BD, Ghigo A, Martini M, Haucke V, Boura E, Merlo GR, Buchner DA, Hirsch E. Gulluni F, et al. Among authors: baris hn. Science. 2021 Dec 10;374(6573):eabk0410. doi: 10.1126/science.abk0410. Epub 2021 Dec 10. Science. 2021. PMID: 34882480 Free PMC article.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA. Tiosano D, et al. Among authors: baris hn. PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr. PLoS Genet. 2019. PMID: 31034465 Free PMC article.
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA. Chen A, et al. Among authors: baris hn. Hum Mol Genet. 2018 Jun 1;27(11):1913-1926. doi: 10.1093/hmg/ddy098. Hum Mol Genet. 2018. PMID: 29566152 Free PMC article.
Is one diagnosis the whole story? patients with double diagnoses.
Kurolap A, Orenstein N, Kedar I, Weisz Hubshman M, Tiosano D, Mory A, Levi Z, Marom D, Cohen L, Ekhilevich N, Douglas J, Nowak CB, Tan WH, Baris HN. Kurolap A, et al. Among authors: baris hn. Am J Med Genet A. 2016 Sep;170(9):2338-48. doi: 10.1002/ajmg.a.37799. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27271787
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T. Haer-Wigman L, et al. Among authors: baris hn. Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9. Hum Mol Genet. 2015. PMID: 25859010 Free PMC article.
CD55 Deficiency and Protein-Losing Enteropathy.
Kurolap A, Eshach-Adiv O, Baris HN. Kurolap A, et al. Among authors: baris hn. N Engl J Med. 2017 Oct 12;377(15):1500. doi: 10.1056/NEJMc1710011. N Engl J Med. 2017. PMID: 29020582 No abstract available.
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.
Kurolap A, Eshach-Adiv O, Gonzaga-Jauregui C, Dolnikov K, Mory A, Paperna T, Hershkovitz T, Overton JD, Kaplan M, Glaser F, Zohar Y, Shuldiner AR, Berger G, Baris HN. Kurolap A, et al. Among authors: baris hn. J Med Genet. 2018 Nov;55(11):779-784. doi: 10.1136/jmedgenet-2018-105299. Epub 2018 Jun 6. J Med Genet. 2018. PMID: 29875123
67 results