Диссертация (1174310), страница 20
Текст из файла (страница 20)
– 2012. – Vol. 142(4). – P. 947 – 956.e5.105. High copper selectively alters lipid metabolism and cell cycle machinery in themouse model of Wilson disease / D. Huster, TD. Purnat [et al.]// J Biol Chem. –2007. – Vol. 282. – P. 8343 – 8355.106. Carrier frequency of Wilson’s disease in the Korean population: a DNA–basedapproach / J–H. Jang, T. Lee [et al.]// Journal of Human Genetics. – 2017. – Vol.62(9). – P.
815.107. Kaplan, JH., Lutsenko, S. Copper Transport in Mammalian Cells: Special Care fora Metal with Special Needs / JH. Kaplan, S. Lutsenko // J. Biol. Chem. – 2009. –Vol. 284. – P. 25461 – 25465.108. Wilson’s disease: An endocrine revelation / N. Kapoor, S. Shetty [et al.]// IndianJournal of Endocrinology and Metabolism. – 2014. – Vol. 18(6).
– P. 855 – 857.109. Endocrine studies of the ovulatory disturbances in Wilson's disease (hepatolenticulardegeneration) / A. Kaushansky, M. Frydman [et al.]// Fertil Steril. – 1987. – Vol.47(2). – P. 270 – 273.110. Fulminant Wilson's disease requiring liver transplantation in one monozygotic twindespite identical genetic mutation / KM. Kegley, MA. Sellers [et al.] // Am JTransplant. – 2010. – Vol. 10. – P. 1325 – 1329.111.
Kenney, SM., Cox, DW. Sequence variation database for the Wilson disease coppertransporter, ATP7B / SM. Kenney, DW. Cox // Hum Mutat. – 2007. – Vol. 28(12).– P. 1171 – 1177.123112. The mutation spectrum of hereditary diseases genes in populations of Russia / I.Khidiyatova, V. Akhmetova [et al.] // Proceedings of the World MedicalConference.
– 2011. – P. 143 – 148.113. Kodama, H., Fujisawa, C., Bhadhprasit, W. Inherited Copper Transport Disorders:Biochemical Mechanisms, Diagnosis, and Treatment / H. Kodama, C. Fujisawa, W.Bhadhprasit // Current Drug Metabolism. – 2012. – Vol. 13(3). – P. 237 – 250.114. Krstić, D., Antonijević, J., Špirić, Ž. Atypical case of Wilson's disease withpsychotic onset, low 24 hour urine copper and the absence of Kayser–Fleischer rings/ D.
Krstić, J. Antonijević, Ž. Špirić // Vojnosanit Pregl. – 2014. – Vol. 71(12). – P.1155 – 1158.115. Rodriguez–Castro, K.I., Hevia–Urrutia, F.J., Sturniolo, G.C. Wilson’s disease: Areview of what we have learned / K.I. Rodriguez–Castro, F.G. Hevia–Urrutia, G.C.Sturniolo // World J Hepatol. – 2015. – Vol. 18.7(29). – P. 2859 – 2870.116. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene ofLithuanian patients with hepatic presentation of Wilson’s disease [Electronicresource] / L.
Kucinskas, J. Jeroch [et al.] // World Journal of Gastroenterology :WJG. – 2008. – Vol. 14(38). – P. 5876 – 5879. – Mode of access:http://doi.org/10.3748/wjg.14.5876.117. Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Qin Indian Wilson disease patients: correlation between genotype/ phenotype/ copperATPase activity / S. Kumar, B. Thapa [et al.] // Mol Cell Biochem.
– 2007. – Vol.294(1–2). – P. 1 – 10.118. Familial gene analysis for Wilson disease from north–west Indian patients / S.Kumar, BR. Thapa [et al.] // Ann Hum Biol. – 2006. – Vol. 33(2). – P. 177 – 186.119. Wilson Disease Mutations in the American Population: Identification of Five NovelMutations in ATP7B / D. Kuppala, J. Deng [et al.] //The Open Hepatology Journal.– 2009. – Vol.
1. – P. 1 – 4.120. Analysis of the T1288R mutation of the Wilson disease ATP7B gene in fourgenerations of a family: possible genotype–phenotype correlation with hepatic onset124/ L. Leggio, N. Malandrino [et al.] // Dig Dis Sci. – 2007. – Vol. 52. – P. 2570 –2575.121. Evaluation of the Unified Wilson’s Disease Rating Scale (UWDRS) in GermanPatients with Treated Wilson’s Disease / B. Leinweber, J.C.
Moller [et al.] //Movement Disorders. – 2008. – Vol. 23(1). – P. 54 – 62.122. Clinical and molecular characterization of Wilson’s disease in China: identificationof 14 novel mutations / X.–H. Li, Y. Lu [et al.] // BMC Medical Genetics. – 2011. –Vol. 12(6). – P. 1 – 13.123. Psychological presentations without hepatic involvement in Wilson disease / JJ.
Lin,KL. Lin [et al.] // Pediatr Neurol. – 2006. – Vol. 35. – P. 284 – 286.124. Linder, MC., Hazegh–Azam, M. Copper biochemistry and molecular biology / MC.Linder, M. Hazegh–Azam // Am J Clin Nutr. – 1996. – Vol. 63(5). – P. 797S – 811S.125. Psychiatric disturbances as a first clinical symptom of Wilson’s disease – case report/ T. Litwin, K. Dzieżyc [et al.] // Psychiatr. Pol. – 2016. – Vol.
50(2). – P. 337 – 344.126. Litwin, T., Gromadzka, G., Cz1onkowska, A. Apolipoprotein E gene (APOE)genotype in Wilson’s disease: Impact on clinical presentation / T. Litwin, G.Gromadzka, A. Cz1onkowska // Parkinsonism and Related Disorders. – 2012. – Vol.18. – P.
367 – 369.127. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilsondisease / X.–Q. Liu, Y.–F. Zhang [et al.] // World Journal of Gastroenterology. –2004. – Vol. 10(4). – P. 590 – 593.128. Molecular characterization of Wilson disease in the Sardinian population – evidenceof a founder effect / G. Loudianos, V. Dessi [et al.] // Hum Mutat. – 1999. – Vol.14(4).
– P. 294 – 303.129. Mutation analysis in patients of Mediterranean descent with Wilson disease:identification of 19 novel mutations / G. Loudianos, V. Dessi [et al.] // J Med Genet.– 1999. Vol. 36. – P. 833 – 836.125130. Cellular multitasking: The dual role of human Cu–ATPases in cofactor deliveryandintracellular copper balance / S.
Lutsenko, A. Gupta [et al.] // Archives ofBiochemistry and Biophysics. – 2008. – Vol. 476. – P. 22 – 32.131. Lutsenko, S. Modifying factors and phenotypic diversity in Wilson’s disease / S.Lutsenko // Annals of the New York Academy of Sciences. – 2014. – Vol. 1315.
–P. 56 – 63.132. Recent advance in the molecular genetics of Wilson disease and hereditaryhemochromatosis / T. Lv, X. Li [et al.] // European Journal of Medical Genetics. –2016. – Vol. 59(16). – P. 532 – 539.133. MacPherson, I.S., Murphy, M.E.P. Type–2 copper–containing enzymes / I.S.MacPherson, M.E.P. Murphy // Cellular and Molecular Life Sciences. – 2007.
– Vol.64(22). – P. 2887 – 2899.134. Majumdar, R., Al–Jumah, M., Zaidan, R. A rare homozygous missensee mutationin ATP7B exon 19 in a case of Wilson disease / R. Majumdar, M. Al–Jumah, R.Zaidan // Eur Neurol. – 2004. – Vol. 51(1). – P. 52 – 54.135. Malik, A., Khawaja, A., Sheikh, L. Wilson’s disease in pregnancy: case series andreview of literature / A. Malik, A. Khawaja, L. Sheikh // BMC Research Notes. –2013. – Vol. 6.
– P. 421.136. Wilson's disease caused by alternative splicing and Alu exonization due to ahomozygous 3039–bp deletion spanning from intron 1 to exon 2 of the ATP7B gene/ E. Mameli, MB. Lepori [et al.] // Gene. – 2015. – Vol. 569(2). – P. 276 – 279.137. Mardis, ER. Next–generation DNA sequencing methods / ER. Mardis // Annu RevGenomics Hum Genet. – 2008. – Vol. 9. – P. 387 – 402.138. Mutation analysis of Wilson disease in the Spanish population – identification of aprevalent substitution and eight novel mutations in the ATP7B gene / E. Margarit,V.
Bach [et al.] // Clin Genet. – 2005. – Vol. 68(1). – P. 61 – 68.139. A Delicate Balance: Homeostatic Control of Copper Uptake and Distribution /M.M.O. Pena, J. Lee [et al.] // J. Nutr. – 1999. – Vol. 129(7). – P. 1251 – 1260.126140. Liver transplantation for fulminant Wilson's disease in children / M. Markiewicz–Kijewska, M. Szymczak [et al.] // Ann Transplant. – 2008. – Vol. 13(2).
– P. 28 –31.141. La Fontaine S: Clusterin and COMMD1 independently regulate degradation of themammalian copper ATPases Atp7A and Atp7B / S. Materia, MA.Cater [et al.] // JBiol Chem. – 2012. – Vol. 287(4). – P. 2485 – 2499.142. Matveeva, T., Zaklyazminskaya, E., Polyakov, A. The molecular–genetic analysisof ATP7B gene at the Russian patients with Wilson disease / T. Matveeva, E.Zaklyazminskaya, A. Polyakov // European journal of human genetics. Ann HumBiol.
– 2016. – Vol. 43(1). – P. 1 – 8.143. Wilson Disease: epigenetic effects of choline supplementation on phenotype andclinical course in a mouse model / V. Medici, D.A. Kieffer [et al.] // Epigenetics. –2016. – Vol. 11(11). – P. 804 – 818.144. Clinical presentation and mutations in Danish patients with Wilson disease / L.B.Møller, N. Horn [et al.] // European Journal of Human Genetics. – 2011.
– Vol.19(9). – P. 935 – 941.145. Wilson's Disease and the Fanconi Syndrome, QJM / H.G. Morgan, W.K. Stewart [etal.] // An International Journal of Medicine. – 1962. – Vol. 31(3). – P. 361 – 384.146. XIAP Is a copper binding protein deregulated in Wilson's disease and other coppertoxicosis disorders / AR. Mufti, E.
Burstein [et al.] // Mol Cell. – 2006. – Vol. 21(6).– P. 775 – 785.147. Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder / T. Muller, H.Feichtinger [et al.] // Lancet. – 1996. – Vol. 347(9005). – P. 877 – 880.148. Nakada, SY., Brown, MR., Rabinowitz, R. Wilson's disease presenting assymptomatic urolithiasis: A case report and review of the literature / SY. Nakada,MR. Brown, R. Rabinowitz // J Urol. – 1994.
![](https://s.studizba.com/z.php?f=/templates/si/i/noavatar.png&w=100&h=100&t=1"){kind=avatar}
