Mapping, cloning and genetic characterization of the region containing the Wilson disease gene von Gilliam, T.C, Matseoane, D, Parano, E, Sternlieb, I, Evgrafov, O, Boukhgalter, B, Russo, J. J, Brzustowicz, L. M, Wasco, W, Pirastu, M, Penchaszadeh, G. K, Fischer, S. G, Cayanis, E, Scheinberg, I. H, Cao, A, Figus, A. L, Loudianos, J, Vitale, E, Petrukhin, K, Warburton, D, Ott, J, Pavone, L, Devoto, M, Tanzi, R.E, Chernov, I

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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene von Tanzi, R.E, Petrukhin, K, Chernov, I, Pellequer, J.L, Wasco, W, Ross, B, Romano, D.M, Parano, E, Pavone, L, Brzustowicz, L.M, Devoto, M, Peppercorn, J, Bush, A.I, Sternlieb, I, Pirastu, M, Gusella, J.F, Evgrafov, O, Penchaszadeh, G.K, Honig, B, Edelman, I.S, Soares, M.B, Scheinberg, I.H, Gilliam, T.C

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Development of a picosecond MCP based particle detector von Barnyakov, A.Yu, Barnyakov, M.Yu, Blinov, V.E., Bobrovnikov, V.S., Bykov, A.V., Ivanov, V.Ya, Katcin, A.A., Mamoshkina, E.V., Ovtin, I.V., Petrukhin, K.G., Pivovarov, S.G., Prisekin, V.G., Pyata, E.E.

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Bestrophin, the Product of the Best Vitelliform Macular Dystrophy Gene (VMD2), Localizes to the Basolateral Plasma Membrane of the Retinal Pigment Epithelium von Marmorstein, Alan D., Marmorstein, Lihua Y., Rayborn, Mary, Wang, Xinxing, Hollyfield, Joe G., Petrukhin, Konstantin

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Pig kidney Na +,K +-ATPase : Primary structure and spatial organization von Ovchinnikov, Yu.A., Modyanov, N.N., Broude, N.E., Petrukhin, K.E., Grishin, A.V., Arzamazova, N.M., Aldanova, N.A., Monastyrskaya, G.S., Sverdlov, E.D.

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Identification of the gene responsible for Best macular dystrophy von Petrukhin, Konstantin, Wadelius, Claes, Koisti, Markus J, Bakall, Benjamin, Li, Wen, Xie, Guochun, Marknell, Towa, Sandgren, Ola, Forsman, Kristina, Holmgren, Gösta, Andreasson, Sten, Vujic, Mihailo, Bergen, Arthur A. B, McGarty-Dugan, Valarie, Figueroa, David, Austin, Christopher P, Metzker, Michael L, Caskey, C.Thomas

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A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy von Petrukhin, Konstantin, Zhang, Kang, Kniazeva, Marina, Han, Min, Li, Wen, Yu, Zhengya, Yang, Zhenglin, Li, Yang, Metzker, Michael L, Allikmets, Rando, Zack, Donald J, Kakuk, Laura E, Lagali, Pamela S, Wong, Paul W, MacDonald, Ian M, Sieving, Paul A, Figueroa, David J, Austin, Christopher P, Gould, Robert J, Ayyagari, Radha

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Efficient Construction of a Physical Map by Fiber-Fish of the CLN5 Region: Refined Assignment and Long-Range Contig Covering the Critical Region on 13q22 von Klockars, T., Savukoski, M., Isosomppi, J., Laan, M., Järvelä, I., Petrukhin, K., Palotie, A., Peltonen, L.

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Diverse Macular Dystrophy Phenotype Caused by a Novel Complex Mutation in the ELOVL4 Gene von Bernstein, Paul S, Tammur, Jaana, Singh, Nanda, Hutchinson, Amy, Dixon, Missy, Pappas, Chris M, Zabriskie, Norman A, Zhang, Kang, Petrukhin, Konstantin, Leppert, Mark, Allikmets, Rando

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N-terminal Domains of Human Copper-transporting Adenosine Triphosphatases (the Wilson's and Menkes Disease Proteins) Bind Copper Selectively in Vivo and in Vitro with Stoichiometry... von Lutsenko, Svetlana, Petrukhin, Konstantin, Cooper, Matthew J., Gilliam, Conrad T., Kaplan, Jack H.

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A Microsatellite Genetic Linkage Map of Human Chromosome 13 von Petrukhin, Konstantin E., Speer, Marcy C., Cayanis, Eftihia, Bonaldo, Maria de Fátima, Tantravahi, Umadevi, Soares, Marcelo Bento, Fischer, Stuart G., Warburton, Dorothy, Gilliam, T.Conrad, Ott, Jurg

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Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses von Shah, Anjali B., Chernov, Igor, Zhang, Hong Tao, Ross, Barbara M., Das, Kamna, Lutsenko, Svetlana, Parano, Enrico, Pavone, Lorenzo, Evgrafov, Oleg, Ivanova-Smolenskaya, Irina A., Annerén, Göran, Westermark, Kerstin, Urrutia, Francisco Hevia, Penchaszadeh, Graciela K., Sternlieb, Irmin, Scheinberg, I. Herbert, Gilliam, T. Conrad, Petrukhin, Konstantin

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Assessment of mutations in the best macular dystrophy ( VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull’s-eye maculopa... von Seddon, Johanna M, Afshari, Mehran A, Sharma, Sanjay, Bernstein, Paul S, Chong, Sandy, Hutchinson, Amy, Petrukhin, Konstantin, Allikmets, Rando

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Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions von Petrukhin, Konstantin, Lutsenko, Svetiana, Chernov, Igor, Ross, Barbara M., Kaplan, Jack H., Gilliam, T.Conrad

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Genetic disorders of copper metabolism von Petrukhin, K, Gilliam, T C

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The family of human Na,K-ATPase genes ATP1AL1 gene is transcriptionally competent and probably encodes the related ion transport ATPase von Modyanov, N.N., Petrukhin, K.E., Sverdlov, V.E., Grishin, A.V., Orlova, M.Y., Kostina, M.B., Makarevich, O.I., Broude, N.E., Monastyrskaya, G.S., Sverdlov, E.D.

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Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies von ALLIKMETS, R, SEDDON, J. M, CASKEY, C. T, DEAN, M, PETRUKHIN, K, BERNSTEIN, P. S, HUTCHINSON, A, ATKINSON, A, SHARMA, S, GERRARD, B, WEN LI, METZKER, M. L, WADELIUS, C

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Identification of a Novel Transcription Regulator from Proteus mirabilis, PMTR, Revealed a Possible Role of YJAI Protein in Balancing Zinc in Escherichia coli von Noll, Meenakshi, Petrukhin, Konstantin, Lutsenko, Svetlana

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Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments von Yang, X L, Miura, N, Kawarada, Y, Terada, K, Petrukhin, K, Gilliam, T, Sugiyama, T

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The family of human Na +,K +-ATPase genes No less than five genes and/or pseudogenes related to the α-subunit von Sverdlov, E.D., Monastyrskaya, G.S., Broude, N.E., Ushkaryov, Yu.A., Allikmets, R.L., Melkov, A.M., Smirnov, Yu.V., Malyshev, I.V., Dulobova, I.E., Petrukhin, K.E., Grishin, A.V., Kijatkin, N.I., Kostina, M.B., Sverdlov, V.E., Modyanov, N.N., Ovchnikov, Yu.A.

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