SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling

por Airik, Rannar, Schueler, Markus, Airik, Merlin, Cho, Jang, Ulanowicz, Kelsey A., Porath, Jonathan D., Hurd, Toby W., Bekker-Jensen, Simon, Schrøder, Jacob M., Andersen, Jens S., Hildebrandt, Friedhelm
Publicado 2016

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

por Roberson, Elle C., Dowdle, William E., Ozanturk, Aysegul, Garcia-Gonzalo, Francesc R., Li, Chunmei, Halbritter, Jan, Elkhartoufi, Nadia, Porath, Jonathan D., Cope, Heidi, Ashley-Koch, Allison, Gregory, Simon, Thomas, Sophie, Sayer, John A., Saunier, Sophie, Otto, Edgar A., Katsanis, Nicholas, Davis, Erica E., Attié-Bitach, Tania, Hildebrandt, Friedhelm, Leroux, Michel R., Reiter, Jeremy F.
Publicado 2015

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

por Perrault, Isabelle, Halbritter, Jan, Porath, Jonathan D, Gérard, Xavier, Braun, Daniela A, Gee, Heon Yung, Fathy, Hanan M, Saunier, Sophie, Cormier-Daire, Valérie, Thomas, Sophie, Attié-Bitach, Tania, Boddaert, Nathalie, Taschner, Michael, Schueler, Markus, Lorentzen, Esben, Lifton, Richard P, Lawson, Jennifer A, Garfa-Traore, Meriem, Otto, Edgar A, Bastin, Philippe, Caillaud, Catherine, Kaplan, Josseline, Rozet, Jean-Michel, Hildebrandt, Friedhelm
Publicado 2015

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

por Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A., Bockenhauer, Detlef, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Hildebrandt, Friedhelm
Publicado 2016

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

por Lewis, Wesley R., Malarkey, Erik B., Tritschler, Douglas, Bower, Raqual, Pasek, Raymond C., Porath, Jonathan D., Birket, Susan E., Saunier, Sophie, Antignac, Corinne, Knowles, Michael R., Leigh, Margaret W., Zariwala, Maimoona A., Challa, Anil K., Kesterson, Robert A., Rowe, Steven M., Drummond, Iain A., Parant, John M., Hildebrandt, Friedhelm, Porter, Mary E., Yoder, Bradley K., Berbari, Nicolas F.
Publicado 2016

FAT1 mutations cause a glomerulotubular nephropathy

por Gee, Heon Yung, Sadowski, Carolin E., Aggarwal, Pardeep K., Porath, Jonathan D., Yakulov, Toma A., Schueler, Markus, Lovric, Svjetlana, Ashraf, Shazia, Braun, Daniela A., Halbritter, Jan, Fang, Humphrey, Airik, Rannar, Vega-Warner, Virginia, Cho, Kyeong Jee, Chan, Timothy A., Morris, Luc G. T., ffrench-Constant, Charles, Allen, Nicholas, McNeill, Helen, Büscher, Rainer, Kyrieleis, Henriette, Wallot, Michael, Gaspert, Ariana, Kistler, Thomas, Milford, David V., Saleem, Moin A., Keng, Wee Teik, Alexander, Stephen I., Valentini, Rudolph P., Licht, Christoph, Teh, Jun C., Bogdanovic, Radovan, Koziell, Ania, Bierzynska, Agnieszka, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Holzman, Lawrence B., Sibinga, Nicholas E. S., Walz, Gerd, Tufro, Alda, Hildebrandt, Friedhelm
Publicado 2016