PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats
Onuchic, Luiz F., Furu, Laszlo, Nagasawa, Yasuyuki, Hou, Xiaoying, Eggermann, Thomas, Ren, Zhiyong, Bergmann, Carsten, Senderek, Jan, Esquivel, Ernie, Zeltner, Raoul, Rudnik-Schöneborn, Sabine, Mrug, Michael, Sweeney, William, Avner, Ellis D., Zerres, Klaus, Guay-Woodford, Lisa M., Somlo, Stefan, Germino, Gregory G.
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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Mutations in SEC63 cause autosomal dominant polycystic liver disease
Somlo, Stefan, Davila, Sonia, Furu, Laszlo, Gharavi, Ali G, Tian, Xin, Onoe, Tamehito, Qian, Qi, Li, Airong, Cai, Yiqiang, Kamath, Patrick S, King, Bernard F, Azurmendi, Pablo J, Tahvanainen, Pia, Kääriäinen, Helena, Höckerstedt, Krister, Devuyst, Olivier, Pirson, Yves, Martin, Rodolfo S, Lifton, Richard P, Tahvanainen, Esa, Torres, Vicente E
Published in Nature genetics (01.06.2004)
Published in Nature genetics (01.06.2004)
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Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease
Li, Airong, Davila, Sonia, Furu, Laszlo, Qian, Qi, Tian, Xin, Kamath, Patrick S., King, Bernard F., Torres, Vicente E., Somlo, Stefan
Published in American journal of human genetics (01.03.2003)
Published in American journal of human genetics (01.03.2003)
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Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
BERGMANN, Carsten, SENDEREK, Jan, GERMINO, Gregory G, GUAY-WOODFORD, Lisa, SOMLO, Stefan, MOSER, Markus, BÜTTNER, Reinhard, ZERRES, Klaus, SEDLACEK, Beate, PEGIAZOGLOU, Ioannis, PUGLIA, Patricia, EGGERMANN, Thomas, RUDNIK-SCHÖNEBORN, Sabine, FURU, Laszlo, ONUCHIC, Luiz F, DE BACA, Monica
Published in Journal of the American Society of Nephrology (2003)
Published in Journal of the American Society of Nephrology (2003)
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Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
FURU, Laszlo, ONUCHIC, Luiz F, GERMINO, Gregory G, GUAY-WOODFORD, Lisa M, SOMLO, Stefan, GHARAVI, Ali, XIAOYING HOU, ESQUIVEL, Ernie L, NAGASAWA, Yasuyuki, BERGMANN, Carsten, SENDEREK, Jan, AVNER, Ellis, ZERRES, Klaus
Published in Journal of the American Society of Nephrology (01.08.2003)
Published in Journal of the American Society of Nephrology (01.08.2003)
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Autosomal dominant pseudohypoaldosteronism type 1 : Mechanisms, evidence for neonatal lethality, and phenotypic expression in adults
GELLER, David S, JUNHUI ZHANG, HAQQ, Andrea M, COREY, Howard, JANSSENS, Sandra, CORVOL, Pierre, LIFTON, Richard P, ZENNARO, Maria-Christina, VALLO-BOADO, Alberto, RODRIGUEZ-SORIANO, Juan, FURU, Laszlo, HAWS, Robert, METZGER, Daniel, BOTELHO, Barbara, KARAVITI, Lefkothea
Published in Journal of the American Society of Nephrology (01.05.2006)
Published in Journal of the American Society of Nephrology (01.05.2006)
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PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
Bergmann, Carsten, Senderek, Jan, Küpper, Fabian, Schneider, Frank, Dornia, Christian, Windelen, Ellen, Eggermann, Thomas, Rudnik‐Schöneborn, Sabine, Kirfel, Jutta, Furu, Laszlo, Onuchic, Luiz F., Rossetti, Sandro, Harris, Peter C., Somlo, Stefan, Guay‐Woodford, Lisa, Germino, Gregory G., Moser, Markus, Büttner, Reinhard, Zerres, Klaus
Published in Human mutation (01.05.2004)
Published in Human mutation (01.05.2004)
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Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
NAGASAWA, Yasuyuki, MATTHIESEN, Sonja, AVNER, Ellis, MOSER, Markus, SOMLO, Stefan, GUAY-WOODFORD, Lisa, BÜTTNER, Reinhard, ZERRES, Klaus, GERMINO, Gregory G, ONUCHIC, Luiz F, XIAOYING HOU, BERGMANN, Carsten, ESQUIVEL, Ernie, SENDEREK, Jan, ZHIYONG REN, ZELTNER, Raoul, FURU, Laszlo
Published in Journal of the American Society of Nephrology (01.09.2002)
Published in Journal of the American Society of Nephrology (01.09.2002)
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Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene
Onuchic, Luiz F, Mrug, Michal, Hou, Xiaoying, Eggermann, Thomas, Bergmann, Carsten, Zerres, Klaus, Avner, Ellis D, Furu, Laszlo, Somlo, Stefan, Nagasawa, Yasuyuki, Germino, Gregory G, Guay-Woodford, Lisa M
Published in American journal of medical genetics (15.07.2002)
Published in American journal of medical genetics (15.07.2002)
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