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Results: 1-13 |
Results: 13
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples
Authors: Phakdeekitcharoen, B Watnick, TJ Germino, GG
Citation: B. Phakdeekitcharoen et al., Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples, J AM S NEPH, 12(5), 2001, pp. 955-963
Biochemical characterization of bona fide polycystin-1 in vitro and in vivo
Authors: Boletta, A Qian, F Onuchic, LF Bragonzi, A Cortese, M Deen, PM Courtoy, PJ Soria, MR Devuyst, O Monaco, L Germino, GG
Citation: A. Boletta et al., Biochemical characterization of bona fide polycystin-1 in vitro and in vivo, AM J KIDNEY, 38(6), 2001, pp. 1421-1429
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease
Authors: Pei, Y Paterson, AD Wang, KR He, N Hefferton, D Watnick, T Germino, GG Parfrey, P Somlo, S St George-Hyslop, P
Citation: Y. Pei et al., Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease, AM J HU GEN, 68(2), 2001, pp. 355-363
Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells
Authors: Boletta, A Qian, F Onuchic, LF Bhunia, AK Phakdeekitcharoen, B Hanaoka, K Guggino, W Monaco, L Germino, GG
Citation: A. Boletta et al., Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells, MOL CELL, 6(5), 2000, pp. 1267-1273
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease
Authors: Hofmann, Y Becker, J Wright, F Avner, ED Mrug, M Guay-Woodford, LM Somlo, S Zerres, K Germino, GG Onuchic, LF
Citation: Y. Hofmann et al., Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease, EUR J HUM G, 8(3), 2000, pp. 163-166
Thirteen novel mutations of the replicated region of PKD1 in an Asian population
Authors: Phakdeekitcharoen, B Watnick, TJ Ahn, C Whang, DY Burkhart, B Germino, GG
Citation: B. Phakdeekitcharoen et al., Thirteen novel mutations of the replicated region of PKD1 in an Asian population, KIDNEY INT, 58(4), 2000, pp. 1400-1412
Co-assembly of polycystin-1 and-2 produces unique cation-permeable currents
Authors: Hanaoka, K Qian, F Boletta, A Bhumia, AK Piontek, K Tsiokas, L Sukhatme, VP Guggino, WB Germino, GG
Citation: K. Hanaoka et al., Co-assembly of polycystin-1 and-2 produces unique cation-permeable currents, NATURE, 408(6815), 2000, pp. 990-994
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease
Authors: Reynolds, DM Hayashi, T Cai, YQ Veldhuisen, B Watnick, TJ Lens, XM Mochizuki, T Qian, F Maeda, Y Li, L Fossdal, R Coto, E Wu, GQ Breuning, MH Germino, GG Peters, DJM Somlo, S
Citation: Dm. Reynolds et al., Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease, J AM S NEPH, 10(11), 1999, pp. 2342-2351
Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias presentin human PKD1
Authors: Piontek, KB Germino, GG
Citation: Kb. Piontek et Gg. Germino, Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias presentin human PKD1, MAMM GENOME, 10(2), 1999, pp. 194-196
Genomic organization of the KIAA0057 gene that encodes a TRAM-like proteinand its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene
Authors: Onuchic, LF Mrug, M Lakings, AL Muecher, G Becker, J Zerres, K Avner, ED Dixit, M Somlo, S Germino, GG Guay-Woodford, LM
Citation: Lf. Onuchic et al., Genomic organization of the KIAA0057 gene that encodes a TRAM-like proteinand its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene, MAMM GENOME, 10(12), 1999, pp. 1175-1178
A 1-Mb BAC/PAC-Based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6
Authors: Park, JH Dixit, MP Onuchic, LF Wu, GQ Goncharuk, AN Kneitz, S Santarina, LB Hayashi, T Avner, ED Guay-Woodford, L Zerres, K Germino, GG Somlo, S
Citation: Jh. Park et al., A 1-Mb BAC/PAC-Based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6, GENOMICS, 57(2), 1999, pp. 249-255
Molecular basis of autosomal dominant polycystic kidney disease
Authors: Watnick, T Germino, GG
Citation: T. Watnick et Gg. Germino, Molecular basis of autosomal dominant polycystic kidney disease, SEM NEPHROL, 19(4), 1999, pp. 327-343
Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease
Authors: Watnick, T Phakdeekitcharoen, B Johnson, A Gandolph, M Wang, M Briefel, G Klinger, KW Kimberling, W Gabow, P Germino, GG
Citation: T. Watnick et al., Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease, AM J HU GEN, 65(6), 1999, pp. 1561-1571
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