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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. Among authors: baranoski jf. 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.
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. Caglayan AO, et al. Among authors: baranoski jf. Eur J Med Genet. 2015 Jan;58(1):39-43. doi: 10.1016/j.ejmg.2014.08.008. Epub 2014 Sep 9. Eur J Med Genet. 2015. PMID: 25220016 Free PMC article.
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M. Caglayan AO, et al. Among authors: baranoski jf. Pediatr Neurol. 2014 Dec;51(6):806-813.e8. doi: 10.1016/j.pediatrneurol.2014.08.025. Epub 2014 Sep 4. Pediatr Neurol. 2014. PMID: 25456301 Free PMC article. Review.
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mishra-Gorur K, et al. Among authors: baranoski jf. Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. Neuron. 2014. PMID: 25521378 Free PMC article.
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.
Erson-Omay EZ, Çağlayan AO, Schultz N, Weinhold N, Omay SB, Özduman K, Köksal Y, Li J, Serin Harmancı A, Clark V, Carrión-Grant G, Baranoski J, Çağlar C, Barak T, Coşkun S, Baran B, Köse D, Sun J, Bakırcıoğlu M, Moliterno Günel J, Pamir MN, Mishra-Gorur K, Bilguvar K, Yasuno K, Vortmeyer A, Huttner AJ, Sander C, Günel M. Erson-Omay EZ, et al. Neuro Oncol. 2015 Oct;17(10):1356-64. doi: 10.1093/neuonc/nov027. Epub 2015 Mar 3. Neuro Oncol. 2015. PMID: 25740784 Free PMC article.
Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.
Juhlin CC, Stenman A, Haglund F, Clark VE, Brown TC, Baranoski J, Bilguvar K, Goh G, Welander J, Svahn F, Rubinstein JC, Caramuta S, Yasuno K, Günel M, Bäckdahl M, Gimm O, Söderkvist P, Prasad ML, Korah R, Lifton RP, Carling T. Juhlin CC, et al. Genes Chromosomes Cancer. 2015 Sep;54(9):542-54. doi: 10.1002/gcc.22267. Epub 2015 May 29. Genes Chromosomes Cancer. 2015. PMID: 26032282 Free PMC article.
118 results