Browsing by Author "Atalay, R. C."

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Open Access
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan
(Elsevier, 2003-12) Dincer, P.; Balcı, B.; Yuva, Y.; Talim, B.; Brockington, M.; Dincel, D.; Torelli, S.; Sue, B. B.; Kale, G.; Haliloglu, G.; Gerceker, F. O.; Atalay, R. C.; Yakıcıer, C.; Longman, C.; Muntoni, F.; Topaloglu, H.
The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized by severe mental retardation but normal brain imaging. Immunocytochemical studies revealed a significant selective reduction of α-dystroglycan expression in the muscle biopsies. Linkage analysis excluded known loci for both limb girdle muscular dystrophy and congenital muscular dystrophies in the consanguineous families. We consider that this represents a novel form of muscular dystrophy with associated brain involvement. The biochemical studies suggest that it may belong to the growing number of muscular dystrophies with abnormal expression of α-dystroglycan. © 2003 Published by Elsevier B.V.
Open Access
Synthesis of some substituted 6-phenyl purine analogues and their biological evaluation as cytotoxic agents
(Slovensko Kemijsko Drustvo, 2017) Kucukdumlu, A.; Tuncbilek, M.; Guven, E. B.; Atalay, R. C.
A series of 6-(4-substituted phenyl)-9-(tetrahydropyran-2-yl)purines 3–9, 6-(4-substituted phenyl)purines 10–16, 9-((4-substituted phenyl)sulfonyl)-6-(4-substituted phenyl)purines 17–32 were prepared and screened initially for their in vitro anticancer activity against selected human cancer cells (liver Huh7, colon HCT116, breast MCF7). 6-(4-Phenoxy-phenyl)purine analogues 9, 16, 30–32, had potent cytotoxic activities. The most active purine derivatives 5–9, 14, 16, 18, 28–32 were further screened for their cytotoxic activity in hepatocellular cancer cells. 6-(4-Phenoxyphenyl)-9-(tetrahydropyran-2-yl)-9H-purine (9) had better cytotoxic activity (IC50 5.4 μM) than the well-known nucleobase analogue 5-FU and known nucleoside drug fludarabine on Huh7 cells. The structure–activity relationship studies reported that the substitution at C-6 positions in purine nucleus with the 4-phenoxyphenyl group is responsible for the anti-cancer activity.