Ciliopathies

Autor Braun, Daniela A., Hildebrandt, Friedhelm
Vydáno v Cold Spring Harb Perspect Biol (2017)

Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte

Autor Hermle, Tobias, Braun, Daniela A., Helmstädter, Martin, Huber, Tobias B., Hildebrandt, Friedhelm
Vydáno v J Am Soc Nephrol (2017)

Gene mutations analysis in Iranian children with Nephronophthisis: A two-Centre Study

Autor Gheissari, Alaleh, Harandavar, Maryam, Hildebrandt, Friedhelm, Braun, Daniela A, Sedghi, Maryam, Parsi, Nastaran, Merrikhi, Alireza, Madihi, Yahya, Aghamohammadi, Farzaneh
Vydáno v Iran J Kidney Dis (2015)

Cystic kidneys in fetal Walker-Warburg Syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

Autor Nabhan, Marwa M., ElKhateeb, Nour, Braun, Daniela A., Eun, Sungho, Saleem, Sahar N., Gee, Heon Yung, Hildebrandt, Friedhelm, Soliman, Neveen A.
Vydáno v Am J Med Genet A (2017)

The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development

Autor Hoff, Sylvia, Epting, Daniel, Falk, Nathalie, Schroda, Sophie, Braun, Daniela A., Halbritter, Jan, Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Bergmann, Carsten, Walz, Gerd, Lienkamp, Soeren S.
Vydáno v J Biol Chem (2018)

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Autor Halbritter, Jan, Porath, Jonathan D., Diaz, Katrina A., Braun, Daniela A., Kohl, Stefan, Chaki, Moumita, Allen, Susan J., Soliman, Neveen A., Hildebrandt, Friedhelm, Otto, Edgar A.
Vydáno v Hum Genet (2013)

The Vac14-interaction Network Is Linked to Regulators of the Endolysosomal and Autophagic Pathway

Autor Schulze, Ulf, Vollenbröker, Beate, Braun, Daniela A., Van Le, Truc, Granado, Daniel, Kremerskothen, Joachim, Fränzel, Benjamin, Klosowski, Rafael, Barth, Johannes, Fufezan, Christian, Wolters, Dirk A., Pavenstädt, Hermann, Weide, Thomas
Vydáno 2014

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model

Autor Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Schneider, Ronen, Hoogstraten, Charlotte A., Ullmann, Jeremy F. P., Schapiro, David, Majmundar, Amar J., Kolb, Amy, Eddy, Kaitlyn, Shril, Shirlee, Braun, Daniela A., Poduri, Annapurna, Hildebrandt, Friedhelm
Vydáno v PLoS One (2018)

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Autor Schönauer, Ria, Jin, Wenjun, Ertel, Anastasia, Nemitz-Kliemchen, Melanie, Panitz, Nydia, Hantmann, Elena, Seidel, Anna, Braun, Daniela A., Shril, Shirlee, Hansen, Matthias, Shahzad, Khurrum, Sandford, Richard, Saunier, Sophie, Benmerah, Alexandre, Bergmann, Carsten, Hildebrandt, Friedhelm, Halbritter, Jan
Vydáno v Kidney Int (2020)

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

Autor Halbritter, Jan, Baum, Michelle, Hynes, Ann Marie, Rice, Sarah J., Thwaites, David T., Gucev, Zoran S., Fisher, Brittany, Spaneas, Leslie, Porath, Jonathan D., Braun, Daniela A., Wassner, Ari J., Nelson, Caleb P., Tasic, Velibor, Sayer, John A., Hildebrandt, Friedhelm
Vydáno v J Am Soc Nephrol (2015)

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Autor Schueler, Markus, Halbritter, Jan, Phelps, Ian G., Braun, Daniela A., Otto, Edgar A., Porath, Jonathan D., Gee, Heon Yung, Shendure, Jay, O’Roak, Brian J., Lawson, Jennifer A., Soliman, Neveen A., Nabhan, Marwa M., Doherty, Dan, Hildebrandt, Friedhelm
Vydáno v J Med Genet (2015)

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

Autor Amar, Ali, Majmundar, Amar J., Ullah, Ihsan, Afzal, Ayesha, Braun, Daniela A., Shril, Shirlee, Daga, Ankana, Jobst-Schwan, Tilman, Ahmad, Mumtaz, Sayer, John A., Gee, Heon Yung, Halbritter, Jan, Knoepfel, Thomas, Hernando, Nati, Werner, Andreas, Wagner, Carsten, Khaliq, Shagufta, Hildebrandt, Friedhelm
Vydáno v Hum Genet (2019)

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

Autor Choi, Yo Jun, Halbritter, Jan, Braun, Daniela A., Schueler, Markus, Schapiro, David, Rim, John Hoon, Nandadasa, Sumeda, Choi, Won-il, Widmeier, Eugen, Shril, Shirlee, Körber, Friederike, Sethi, Sidharth K., Lifton, Richard P., Beck, Bodo B., Apte, Suneel S., Gee, Heon Yung, Hildebrandt, Friedhelm
Vydáno v Am J Hum Genet (2019)

Targeted re-sequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER/VACTERL association

Autor Hilger, Alina C., Halbritter, Jan, Pennimpede, Tracie, van der Ven, Amelie, Sarma, Georgia, Braun, Daniela A., Porath, Jonathan D., Kohl, Stefan, Hwang, Daw-Yung, Dworschak, Gabriel C., Hermann, Bernhard G., Pavlova, Anna, El-Maarri, Osman, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko, Hildebrandt, Friedhelm
Vydáno v Hum Mutat (2015)

Mutations in SLC26A1 Cause Nephrolithiasis

Autor Gee, Heon Yung, Jun, Ikhyun, Braun, Daniela A., Lawson, Jennifer A., Halbritter, Jan, Shril, Shirlee, Nelson, Caleb P., Tan, Weizhen, Stein, Deborah, Wassner, Ari J., Ferguson, Michael A., Gucev, Zoran, Sayer, John A., Milosevic, Danko, Baum, Michelle, Tasic, Velibor, Lee, Min Goo, Hildebrandt, Friedhelm
Vydáno v Am J Hum Genet (2016)

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

Autor Schapiro, David, Daga, Ankana, Lawson, Jennifer A, Majmundar, Amar J, Lovric, Svjetlana, Tan, Weizhen, Warejko, Jillian K, Fessi, Inés, Rao, Jia, Airik, Merlin, Gee, Heon Yung, Schneider, Ronen, Widmeier, Eugen, Hermle, Tobias, Ashraf, Shazia, Jobst-Schwan, Tilman, van der Ven, Amelie T, Nakayama, Makiko, Shril, Shirlee, Braun, Daniela A, Hildebrandt, Friedhelm
Vydáno v Nephrol Dial Transplant (2019)

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Autor Failler, Marion, Gee, Heon Yung, Krug, Pauline, Joo, Kwangsic, Halbritter, Jan, Belkacem, Lilya, Filhol, Emilie, Porath, Jonathan D., Braun, Daniela A., Schueler, Markus, Frigo, Amandine, Alibeu, Olivier, Masson, Cécile, Brochard, Karine, Hurault de Ligny, Bruno, Novo, Robert, Pietrement, Christine, Kayserili, Hulya, Salomon, Rémi, Gubler, Marie-Claire, Otto, Edgar A., Antignac, Corinne, Kim, Joon, Benmerah, Alexandre, Hildebrandt, Friedhelm, Saunier, Sophie
Vydáno 2014

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

Autor 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
Vydáno v J Med Genet (2015)

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

Autor 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
Vydáno v Kidney Int (2016)

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes

Autor Rinschen, Markus M., Gödel, Markus, Grahammer, Florian, Zschiedrich, Stefan, Helmstädter, Martin, Kretz, Oliver, Zarei, Mostafa, Braun, Daniela A., Dittrich, Sebastian, Pahmeyer, Caroline, Schroder, Patricia, Teetzen, Carolin, Gee, HeonYung, Daouk, Ghaleb, Pohl, Martin, Kuhn, Elisa, Schermer, Bernhard, Küttner, Victoria, Boerries, Melanie, Busch, Hauke, Schiffer, Mario, Bergmann, Carsten, Krüger, Marcus, Hildebrandt, Friedhelm, Dengjel, Joern, Benzing, Thomas, Huber, Tobias B.
Vydáno v Cell Rep (2018)