ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X, Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C, Avila-Casado, Carmen, Paterson, Andrew D, Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J, Zhou, Weibin, Airik, Rannar, Otto, Edgar A, Barua, Moumita, Al-Hamed, Mohamed H, Kari, Jameela A, Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A, Böckenhauer, Detlef, Kleta, Robert, El Desoky, Sherif, Hacihamdioglu, Duygu O, Gok, Faysal, Washburn, Joseph, Wiggins, Roger C, Choi, Murim, Lifton, Richard P, Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S, Pollak, Martin, Clarke, Catherine F, Pei, York, Antignac, Corinne, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.12.2013)
Published in The Journal of clinical investigation (01.12.2013)
Get full text
Journal Article
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
WEIBIN ZHOU, OTTO, Edgar A, GHOSH, Amiya K, NATARAJAN, Sivakumar, THONGTHIP, Supawat, VETURI, Uma, ALLEN, Susan J, JANSSEN, Sabine, RAMASWAMI, Gokul, DIXON, Joanne, BURKHALTER, Felix, SPOENDLIN, Martin, CLUCKEY, Andrew, MOCH, Holger, MIHATSCH, Michael J, VERINE, Jerome, READE, Richard, SOLIMAN, Hany, GODIN, Michel, KISS, Denes, MONGA, Guido, MAZZUCCO, Gianna, AMANN, Kerstin, AIRIK, Rannar, ARTUNC, Ferruh, NEWLAND, Ronald C, WIECH, Thorsten, ZSCHIEDRICH, Stefan, HUBER, Tobias B, FRIEDL, Andreas, SLAATS, Gisela G, JOLES, Jaap A, GOLDSCHMEDING, Roel, WASHBURN, Joseph, HURD, Toby W, GILES, Rachel H, LEVY, Shawn, SMOGORZEWSKA, Agata, HILDEBRANDT, Friedhelm, CHAKI, Moumita, DIAZ, Katrina, LACH, Francis P, BENNETT, Geoffrey R, HEON YUNG GEE
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
Get full text
Journal Article
Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome
Gee, Heon Yung, Ashraf, Shazia, Wan, Xiaoyang, Vega-Warner, Virginia, Esteve-Rudd, Julian, Lovric, Svjetlana, Fang, Humphrey, Hurd, Toby W., Sadowski, Carolin E., Allen, Susan J., Otto, Edgar A., Korkmaz, Emine, Washburn, Joseph, Levy, Shawn, Williams, David S., Bakkaloglu, Sevcan A., Zolotnitskaya, Anna, Ozaltin, Fatih, Zhou, Weibin, Hildebrandt, Friedhelm
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
Get full text
Journal Article
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
Hildebrandt, Friedhelm, Sayer, John A, Otto, Edgar A, O'Toole, John F, Nurnberg, Gudrun, Kennedy, Michael A, Becker, Christian, Hennies, Hans Christian, Helou, Juliana, Attanasio, Massimo, Fausett, Blake V, Utsch, Boris, Khanna, Hemant, Liu, Yan, Drummond, Iain, Kawakami, Isao, Kusakabe, Takehiro, Tsuda, Motoyuki, Ma, Li, Lee, Hwankyu, Larson, Ronald G, Allen, Susan J, Wilkinson, Christopher J, Nigg, Erich A, Shou, Chengchao, Lillo, Concepcion, Williams, David S, Hoppe, Bernd, Kemper, Markus J, Neuhaus, Thomas, Parisi, Melissa A, Glass, Ian A, Petry, Marianne, Kispert, Andreas, Gloy, Joachim, Ganner, Athina, Walz, Gerd, Zhu, Xueliang, Goldman, Daniel, Nurnberg, Peter, Swaroop, Anand, Leroux, Michel R
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
Get full text
Journal Article
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo, Lewis, Richard A., Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
Published in Kidney international (01.04.2014)
Published in Kidney international (01.04.2014)
Get full text
Journal Article
A systematic approach to mapping recessive disease genes in individuals from outbred populations
Hildebrandt, Friedhelm, Heeringa, Saskia F, Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N, Zhou, Weibin, O'Toole, John F, Hoskins, Bethan E, Wolf, Matthias T F, Hinkes, Bernward G, Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S, Ovunc, Bugsu, Allen, Susan J, Vega-Warner, Virginia, Wise, Eric, Harville, Heather M, Lyons, Robert H, Washburn, Joseph, Macdonald, James, Nürnberg, Peter, Otto, Edgar A
Published in PLoS genetics (01.01.2009)
Published in PLoS genetics (01.01.2009)
Get full text
Journal Article
Hypothalamic and Cell-Specific Transcriptomes Unravel a Dynamic Neuropil Remodeling in Leptin-Induced and Typical Pubertal Transition in Female Mice
Han, Xingfa, Burger, Laura L., Garcia-Galiano, David, Sim, Seokmin, Allen, Susan J., Olson, David P., Myers, Martin G., Elias, Carol F.
Published in iScience (23.10.2020)
Published in iScience (23.10.2020)
Get full text
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)
Get full text
Journal Article
Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies
Chaki, Moumita, Hoefele, Julia, Allen, Susan J., Ramaswami, Gokul, Janssen, Sabine, Bergmann, Carsten, Heckenlively, John R., Otto, Edgar A., Hildebrandt, Friedhelm
Published in Kidney international (01.12.2011)
Published in Kidney international (01.12.2011)
Get full text
Journal Article
ERα Signaling in GHRH/Kiss1 Dual-Phenotype Neurons Plays Sex-Specific Roles in Growth and Puberty
Garcia-Galiano, David, Cara, Alexandra L, Tata, Zachary, Allen, Susan J, Myers, Jr, Martin G, Schipani, Ernestina, Elias, Carol F
Published in The Journal of neuroscience (02.12.2020)
Published in The Journal of neuroscience (02.12.2020)
Get full text
Journal Article
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Chaki, Moumita, Airik, Rannar, Ghosh, Amiya K., Giles, Rachel H., Chen, Rui, Slaats, Gisela G., Wang, Hui, Hurd, Toby W., Zhou, Weibin, Cluckey, Andrew, Gee, Heon Yung, Ramaswami, Gokul, Hong, Chen-Jei, Hamilton, Bruce A., Červenka, Igor, Ganji, Ranjani Sri, Bryja, Vitezslav, Arts, Heleen H., van Reeuwijk, Jeroen, Oud, Machteld M., Letteboer, Stef J.F., Roepman, Ronald, Husson, Hervé, Ibraghimov-Beskrovnaya, Oxana, Yasunaga, Takayuki, Walz, Gerd, Eley, Lorraine, Sayer, John A., Schermer, Bernhard, Liebau, Max C., Benzing, Thomas, Le Corre, Stephanie, Drummond, Iain, Janssen, Sabine, Allen, Susan J., Natarajan, Sivakumar, O’Toole, John F., Attanasio, Massimo, Saunier, Sophie, Antignac, Corinne, Koenekoop, Robert K., Ren, Huanan, Lopez, Irma, Nayir, Ahmet, Stoetzel, Corinne, Dollfus, Helene, Massoudi, Rustin, Gleeson, Joseph G., Andreoli, Sharon P., Doherty, Dan G., Lindstrad, Anna, Golzio, Christelle, Katsanis, Nicholas, Pape, Lars, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard A., Omran, Heymut, Lee, Eva Y.-H.P., Wang, Shaohui, Sekiguchi, JoAnn M., Saunders, Rudel, Johnson, Colin A., Garner, Elizabeth, Vanselow, Katja, Andersen, Jens S., Shlomai, Joseph, Nurnberg, Gudrun, Nurnberg, Peter, Levy, Shawn, Smogorzewska, Agata, Otto, Edgar A., Hildebrandt, Friedhelm
Published in Cell (03.08.2012)
Published in Cell (03.08.2012)
Get full text
Journal Article
Deletion of Androgen Receptor in LepRb Cells Improves Estrous Cycles in Prenatally Androgenized Mice
Cara, Alexandra L, Burger, Laura L, Beekly, Bethany G, Allen, Susan J, Henson, Emily L, Auchus, Richard J, Myers, Martin G, Moenter, Suzanne M, Elias, Carol F
Published in Endocrinology (Philadelphia) (01.03.2023)
Published in Endocrinology (Philadelphia) (01.03.2023)
Get full text
Journal Article
Obesity and High-Fat Diet Induce Distinct Changes in Placental Gene Expression and Pregnancy Outcome
Mahany, Erica B, Han, Xingfa, Borges, Beatriz C, da Silveira Cruz-Machado, Sanseray, Allen, Susan J, Garcia-Galiano, David, Hoenerhoff, Mark J, Bellefontaine, Nicole H, Elias, Carol F
Published in Endocrinology (Philadelphia) (01.04.2018)
Published in Endocrinology (Philadelphia) (01.04.2018)
Get full text
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)
Get full text
Journal Article
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
Halbritter, Jan, Diaz, Katrina, Chaki, Moumita, Porath, Jonathan D, Tarrier, Brendan, Fu, Clementine, Innis, Jamie L, Allen, Susan J, Lyons, Robert H, Stefanidis, Constantinos J, Omran, Heymut, Soliman, Neveen A, Otto, Edgar A
Published in Journal of medical genetics (01.12.2012)
Published in Journal of medical genetics (01.12.2012)
Get full text
Journal Article