The ciliary transition zone: From Morphology and Molecules to Medicine

Por Czarnecki, Peter G., Shah, Jagesh V.
Publicado em 2012

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity

Por Leightner, Amanda C., Hommerding, Cynthia J., Peng, Ying, Salisbury, Jeffrey L., Gainullin, Vladimir G., Czarnecki, Peter G., Sussman, Caroline R., Harris, Peter C.
Publicado em 2013

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

Por Tammachote, Rachaneekorn, Hommerding, Cynthia J., Sinders, Rachel M., Miller, Caroline A., Czarnecki, Peter G., Leightner, Amanda C., Salisbury, Jeffrey L., Ward, Christopher J., Torres, Vicente E., Gattone, Vincent H., Harris, Peter C.
Publicado em 2009

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

Por Schäfer, Tobias, Pütz, Michael, Lienkamp, Soeren, Ganner, Athina, Bergbreiter, Astrid, Ramachandran, Haribaskar, Gieloff, Verena, Gerner, Martin, Mattonet, Christian, Czarnecki, Peter G., Sayer, John A., Otto, Edgar A., Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Walz, Gerd
Publicado em 2008

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

Por Schäfer, Tobias, Pütz, Michael, Lienkamp, Soeren, Ganner, Athina, Bergbreiter, Astrid, Ramachandran, Haribaskar, Gieloff, Verena, Gerner, Martin, Mattonet, Christian, Czarnecki, Peter G., Sayer, John A., Otto, Edgar A., Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Walz, Gerd
Publicado em 2009

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

Por Hopp, Katharina, Heyer, Christina M., Hommerding, Cynthia J., Henke, Susan A., Sundsbak, Jamie L., Patel, Shail, Patel, Priyanka, Consugar, Mark B., Czarnecki, Peter G., Gliem, Troy J., Torres, Vicente E., Rossetti, Sandro, Harris, Peter C.
Publicado em 2011

ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning

Por Czarnecki, Peter G., Gabriel, George C., Manning, Danielle K., Sergeev, Mikhail, Lemke, Kristi, Klena, Nikolai T., Liu, Xiaoqin, Chen, Yu, Li, You, San Agustin, Jovenal T., Garnaas, Maija K., Francis, Richard J., Tobita, Kimimasa, Goessling, Wolfram, Pazour, Gregory J., Lo, Cecilia W., Beier, David R., Shah, Jagesh V.
Publicado no Nat Commun (2015)

Angiotensin Blockade in Late Autosomal Dominant Polycystic Kidney Disease

Por Torres, Vicente E., Abebe, Kaleab Z., Chapman, Arlene B., Schrier, Robert W., Braun, William E., Steinman, Theodore I., Winklhofer, Franz T., Brosnahan, Godela, Czarnecki, Peter G., Hogan, Marie C., Miskulin, Dana C., Rahbari-Oskoui, Frederic F., Grantham, Jared J., Harris, Peter C., Flessner, Michael F., Moore, Charity G., Perrone, Ronald D.
Publicado no N Engl J Med (2014)

Blood Pressure in Early Autosomal Dominant Polycystic Kidney Disease

Por Schrier, Robert W., Abebe, Kaleab Z., Perrone, Ronald D., Torres, Vicente E., Braun, William E., Steinman, Theodore I., Winklhofer, Franz T., Brosnahan, Godela, Czarnecki, Peter G., Hogan, Marie C., Miskulin, Dana C., Rahbari-Oskoui, Frederic F., Grantham, Jared J., Harris, Peter C., Flessner, Michael F., Bae, Kyongtae T., Moore, Charity G., Chapman, Arlene B.
Publicado no N Engl J Med (2014)

Closeout of the HALT-PKD Trials

Por Moore, Charity G., Spillane, Susan, Simon, Gertrude, Maxwell, Barbara, Rahbari-Oskoui, Frederic F., Braun, William E., Chapman, Arlene B., Schrier, Robert W., Torres, Vicente E., Perrone, Ronald D., Steinman, Theodore I., Brosnahan, Godela, Czarnecki, Peter G., Harris, Peter C., Miskulin, Dana C., Flessner, Michael F., Bae, K. Ty, Abebe, Kaleab Z., Hogan, Marie C.
Publicado no Contemp Clin Trials (2015)

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Por Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, Hildebrandt, Friedhelm
Publicado em 2013