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PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. Morgan NV, et al. Among authors: cangul h. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18. Nat Genet. 2006. PMID: 16783378 Free PMC article.
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, Keenan S, Pasha S, Rahman F, Gentle D, Vreeswijk MP, Devilee P, Knowles MA, Ceylaner S, Trembath RC, Dalence C, Kismet E, Köseoğlu V, Rossbach HC, Gissen P, Tannahill D, Maher ER. Morgan NV, et al. Among authors: cangul h. PLoS Genet. 2010 Feb 5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833. PLoS Genet. 2010. PMID: 20140240 Free PMC article.
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gürakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Müller F, Maher ER, Gissen P. Cullinane AR, et al. Among authors: cangul h. Nat Genet. 2010 Apr;42(4):303-12. doi: 10.1038/ng.538. Epub 2010 Feb 28. Nat Genet. 2010. PMID: 20190753 Free PMC article.
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Cangul H, Morgan NV, Forman JR, Saglam H, Aycan Z, Yakut T, Gulten T, Tarim O, Bober E, Cesur Y, Kirby GA, Pasha S, Karkucak M, Eren E, Cetinkaya S, Bas V, Demir K, Yuca SA, Meyer E, Kendall M, Hogler W, Barrett TG, Maher ER. Cangul H, et al. Clin Endocrinol (Oxf). 2010 Nov;73(5):671-7. doi: 10.1111/j.1365-2265.2010.03849.x. Clin Endocrinol (Oxf). 2010. PMID: 20718767
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.
Cangul H, Aycan Z, Olivera-Nappa A, Saglam H, Schoenmakers NA, Boelaert K, Cetinkaya S, Tarim O, Bober E, Darendeliler F, Bas V, Demir K, Aydin BK, Kendall M, Cole T, Högler W, Chatterjee VK, Barrett TG, Maher ER. Cangul H, et al. Clin Endocrinol (Oxf). 2013 Aug;79(2):275-81. doi: 10.1111/cen.12127. Epub 2013 May 6. Clin Endocrinol (Oxf). 2013. PMID: 23236987
35 results