Ciliopathies
Braun, Daniela A, Hildebrandt, Friedhelm
Published in Cold Spring Harbor perspectives in biology (01.03.2017)
Published in Cold Spring Harbor perspectives in biology (01.03.2017)
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Journal Article
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis
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
Published in Journal of the American Society of Nephrology (01.03.2015)
Published in Journal of the American Society of Nephrology (01.03.2015)
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Journal Article
Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
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
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
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Journal Article
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
Daga, Ankana, Majmundar, Amar J., Braun, Daniela A., Gee, Heon Yung, Lawson, Jennifer A., Shril, Shirlee, Jobst-Schwan, Tilman, Vivante, Asaf, Schapiro, David, Tan, Weizhen, Warejko, Jillian K., Widmeier, Eugen, Nelson, Caleb P., Fathy, Hanan M., Gucev, Zoran, Soliman, Neveen A., Hashmi, Seema, Halbritter, Jan, Halty, Margarita, Kari, Jameela A., El-Desoky, Sherif, Ferguson, Michael A., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daouk, Ghaleb H., Rodig, Nancy M., Katz, Avi, Hanna, Christian, Schwaderer, Andrew L., Sayer, John A., Wassner, Ari J., Mane, Shrikant, Lifton, Richard P., Milosevic, Danko, Tasic, Velibor, Baum, Michelle A., Hildebrandt, Friedhelm
Published in Kidney international (01.01.2018)
Published in Kidney international (01.01.2018)
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Journal Article
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
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.
Published in Human genetics (01.08.2013)
Published in Human genetics (01.08.2013)
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Journal Article
It All Happens at Once: Understanding Electoral Behaviour in Second-Order Elections
Schmitt, Hermann, Sanz, Alberto, Braun, Daniela, Teperoglou, Eftichia
Published in Politics and governance (01.01.2020)
Published in Politics and governance (01.01.2020)
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Journal Article
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
Braun, Daniela A, Sadowski, Carolin E, Kohl, Stefan, Lovric, Svjetlana, Astrinidis, Susanne A, Pabst, Werner L, Gee, Heon Yung, Ashraf, Shazia, Lawson, Jennifer A, Shril, Shirlee, Airik, Merlin, Tan, Weizhen, Schapiro, David, Rao, Jia, Choi, Won-Il, Hermle, Tobias, Kemper, Markus J, Pohl, Martin, Ozaltin, Fatih, Konrad, Martin, Bogdanovic, Radovan, Büscher, Rainer, Helmchen, Udo, Serdaroglu, Erkin, Lifton, Richard P, Antonin, Wolfram, Hildebrandt, Friedhelm
Published in Nature genetics (01.04.2016)
Published in Nature genetics (01.04.2016)
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Journal Article
The transcription factor ATF4 mediates endoplasmic reticulum stress-related podocyte injury and slit diaphragm defects
Krausel, Vanessa, Pund, Lisanne, Nüsse, Harald, Bachir, Hussein, Ricker, Andrea, Klingauf, Jürgen, Weide, Thomas, Pavenstädt, Hermann, Krahn, Michael P., Braun, Daniela A.
Published in Kidney international (01.05.2023)
Published in Kidney international (01.05.2023)
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Journal Article
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment
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
Published in Kidney international (01.10.2020)
Published in Kidney international (01.10.2020)
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Journal Article
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model
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
Published in PloS one (18.01.2018)
Published in PloS one (18.01.2018)
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Journal Article
A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes
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.
Published in Cell reports (Cambridge) (22.05.2018)
Published in Cell reports (Cambridge) (22.05.2018)
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Journal Article
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Braun, Daniela A, Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan, Asif, Maria, Hussain, Muhammad Sajid, Daga, Ankana, Widmeier, Eugen, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C Patrick, Kolb, Amy, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A, Eddy, Kaitlyn, Kitzler, Thomas M, Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A, Lawson, Jennifer A, Gee, Heon Yung, Warejko, Jillian K, Hermle, Tobias, Majmundar, Amar J, Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmüller, Janine, Noegel, Angelika Anna, Fathy, Hanan M, Gale, Daniel P, Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroğlu, Erkin, Alhasan, Khalid A, Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S, Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P, Mane, Shrikant, Nürnberg, Peter, Khokha, Mustafa K, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.10.2018)
Published in The Journal of clinical investigation (01.10.2018)
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Journal Article
Mutations in SLC26A1 Cause Nephrolithiasis
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
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Journal Article
Mutations in WDR4 as a new cause of Galloway–Mowat syndrome
Braun, Daniela A., Shril, Shirlee, Sinha, Aditi, Schneider, Ronen, Tan, Weizhen, Ashraf, Shazia, Hermle, Tobias, Jobst‐Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J., Daga, Ankana, Warejko, Jillian K., Nakayama, Makiko, Schapiro, David, Chen, Jing, Airik, Merlin, Rao, Jia, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Hugo, Hannah, Meena, Jitendra, Lek, Monkol, Laricchia, Kristen M., Bagga, Arvind, Hildebrandt, Friedhelm
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Journal Article
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
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
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
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Journal Article
Plasma protein signatures reflect systemic immunity and allograft function in kidney transplantation
Buscher, Konrad, Rixen, Rebecca, Schütz, Paula, Hüchtmann, Birte, Van Marck, Veerle, Heitplatz, Barbara, Jehn, Ulrich, Braun, Daniela A, Gabriëls, Gert, Pavenstädt, Hermann, Reuter, Stefan
Published in Translational research : the journal of laboratory and clinical medicine (01.12.2023)
Published in Translational research : the journal of laboratory and clinical medicine (01.12.2023)
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Journal Article
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression
Yang, Chaozhe, Harafuji, Naoe, O’Connor, Amber K., Kesterson, Robert A., Watts, Jacob A., Majmundar, Amar J., Braun, Daniela A., Lek, Monkol, Laricchia, Kristen M., Fathy, Hanan M., Mane, Shrikant, Shril, Shirlee, Hildebrandt, Friedhelm, Guay-Woodford, Lisa M.
Published in Scientific reports (14.09.2021)
Published in Scientific reports (14.09.2021)
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Journal Article
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis
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, Knöpfel, Thomas, Hernando, Nati, Werner, Andreas, Wagner, Carsten, Khaliq, Shagufta, Hildebrandt, Friedhelm
Published in Human genetics (01.03.2019)
Published in Human genetics (01.03.2019)
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Journal Article
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
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
Published in Kidney international (01.02.2016)
Published in Kidney international (01.02.2016)
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Journal Article