Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Jana Schroth"'
Autor:
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson
Publikováno v:
eLife, Vol 4 (2015)
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to i
Externí odkaz:
https://doaj.org/article/c3d923b71f264930947bb9ecf4abf7f9
Autor:
Denice Belandres, Hüseyin Per, Noam Shomron, Ayşe Kaçar Bayram, Ahmet Okay Caglayan, Jennifer L. Silhavy, Daphna Weissglas-Volkov, Murat Gunel, Stacey Gabriel, Katsuhito Yasuno, Yaron Einhorn, Gali Heimer, Jana Schroth, Valentina Stanley, Nir Pillar, Steven M. Lewis, Bruria Ben-Zeev, Brett Copeland, Joseph G. Gleeson, Sefer Kumandaş, Jennifer McEvoy-Venneri, Yuval Porat, Anne Gregor, Rasim Ozgur Rosti, Hakan Gümüş, Naiara Akizu, Emine Z. Erson-Omay, Gozde Tugce Akgumus, Maha S. Zaki, Rebecca Fang, Alicia Guemez-Gamboa, Mahmoud Y. Issa, Kaya Bilguvar, Sahar N. Saleem, Damir Musaev
Publikováno v:
Annals of Neurology. 84:638-647
Objective To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome. Methods Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radio
Autor:
Alicia Guemez-Gamboa, Tawfeg Ben-Omran, Neil C. Chi, Eric Scott, Maha S. Zaki, Stacey Gabriel, Murat Gunel, Hongbo Yang, Majdi Kara, Rasim Ozgur Rosti, Joseph G. Gleeson, Long N. Nguyen, Jana Schroth, Markus R. Wenk, Basak Rosti, David L. Silver, Keith K. Vaux, Debra Q Y Quek, Amaury Cazenave-Gassiot, Brett Copeland, Bernice H. Wong, Naiara Akizu, Bryan C. Tan
Publikováno v:
Nature Genetics. 47:809-813
Docosahexanoic acid (DHA) is the most abundant omega-3 fatty acid in brain, and, although it is considered essential, deficiency has not been linked to disease. Despite the large mass of DHA in phospholipids, the brain does not synthesize it. DHA is
Autor:
Keith K. Vaux, Mahmut Şamil Sağıroğlu, Laila Bastaki, Seth J. Field, Pascale de Lonlay, Sawsan Abdel-Hadi, Lihadh Al-Gazali, Hülya Kayserili, Ali Dursun, Jeffrey D. Esko, Eric Scott, Xin Wang, Faezeh Mojahedi, Ashleigh E. Schaffer, R. Köksal Özgül, Iman G. Mahmoud, Isabelle Desguerre, Matthew D. Buschman, Laila Selim, Samia A. Temtamy, Jean-Laurent Casanova, Murat Gunel, Abdelrahim Abdrabou Sadek, Philip L.S.M. Gordts, Brett Copeland, Mona Aglan, Amira Masri, Maha S. Zaki, Joseph G. Gleeson, Matloob Azam, Naiara Akizu, Vincent Cantagrel, Antoinette Gelot, Basak Rosti, Jennifer L. Silhavy, Esra Dikoglu, Ulrich Müller, Amera El Badawy, Gennaro Napolitano, Stacey Gabriel, Rasim Ozgur Rosti, Jana Schroth, Samira Ismail, Ghada M H Abdel-Salam
Publikováno v:
Nature genetics, vol 47, iss 5
Nature genetics
Nature genetics
Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 fami
Publikováno v:
Nature cell biology
Mechanisms of signal transduction regulation remain a fundamental question in a variety of biological processes and diseases. Previous evidence suggests the primary cilium can act as a signaling hub1, but its exact role in many of its described pathw
Autor:
Young Hyun You, Jana Schroth, Satish P Ramachandrarao, Elizabeth Morse, Robyn Cunard, Kumar Sharma, Volker Vallon, Donald P. Pizzo, Shinichi Okada
Publikováno v:
American Journal of Physiology-Renal Physiology. 299:F965-F972
The prevalence of diabetic nephropathy continues to rise, highlighting the importance of investigating and discovering novel treatment strategies. TRB3 is a kinase-like molecule that modifies cellular survival and metabolism and interferes with signa
Autor:
Vladislav Bugaj, Jana Schroth, Gerry R. Boss, James D. Stockand, Volker Vallon, Paul A. Insel, Alla Fridman, Timo Rieg, Oleh Pochynyuk
Publikováno v:
The FASEB Journal. 24:2056-2065
Apical release of ATP and UTP can activate P2Y2 receptors in the aldosterone-sensitive distal nephron (ASDN) and inhibit the open probability (Po) of the epithelial sodium channel (ENaC). Little is known, however, about the regulation and physiologic
Publikováno v:
American Journal of Physiology-Renal Physiology. 297:F704-F712
The Na-Cl cotransporter NCC is expressed in the distal convoluted tubule, activated by phosphorylation, and has been implicated in renal NaCl and K+ homeostasis. The serum and glucocorticoid inducible kinase 1 (SGK1) contributes to renal NaCl retenti
Autor:
Bernard C. Rossier, Georges Dechenes, James D. Stockand, Vladislav Bugaj, Edith Hummler, Volker Vallon, Oleh Pochynyuk, Robyn Cunard, Timo Rieg, Jana Schroth
Publikováno v:
Journal of the American Society of Nephrology : JASN
Thiazolidinediones are agonists of peroxisome proliferator-activated receptor gamma (PPARgamma) that can induce fluid retention and weight gain through unclear mechanisms. To test a proposed role for the epithelial sodium channel ENaC in thiazolidine
Publikováno v:
Nephron Physiology. 111:p30-p38
Background: In early type 1 diabetes mellitus, changes in proximal reabsorption influence glomerular filtration rate (GFR) through tubuloglomerular feedback (TGF). Due to TGF, a primary increase in proximal reabsorption causes early diabetic hyperfil