Rezultaty - Jana Schroth

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  1. 1
    Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

    Subcellular spatial regulation of canonical Wnt signalling at the primary cilium od Madeline A. Lancaster, Jana Schroth, Joseph G. Gleeson

    Wydane 2011
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  2. 2
    Expression and phosphorylation of the Na<sup>+</sup>-Cl<sup>−</sup> cotransporter NCC in vivo is regulated by dietary salt, potassium, and SGK1

    Expression and phosphorylation of the Na<sup>+</sup>-Cl<sup>−</sup> cotransporter NCC in vivo is regulated by dietary salt, potassium, and SGK1 od Volker Vallon, Jana Schroth, Florian Läng, Dietmar Kuhl, Shinichi Uchida

    Wydane 2009
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  3. 3
    Adenosine A&lt;sub&gt;1&lt;/sub&gt; Receptors Determine Glomerular Hyperfiltration and the Salt Paradox in Early Streptozotocin Diabetes Mellitus

    Adenosine A&lt;sub&gt;1&lt;/sub&gt; Receptors Determine Glomerular Hyperfiltration and the Salt Paradox in Early Streptozotocin Diabetes Mellitus od Volker Vallon, Jana Schroth, Joseph Satriano, Roland C. Blantz, Scott C. Thomson, Timo Rieg

    Wydane 2009
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  4. 4
    SGLT2 Mediates Glucose Reabsorption in the Early Proximal Tubule

    SGLT2 Mediates Glucose Reabsorption in the Early Proximal Tubule od Volker Vallon, Kenneth A. Platt, Robyn Cunard, Jana Schroth, Jean M. Whaley, Scott C. Thomson, Hermann Koepsell, Timo Rieg

    Wydane 2010
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  5. 5
    Adenylate Cyclase 6 Determines cAMP Formation and Aquaporin-2 Phosphorylation and Trafficking in Inner Medulla

    Adenylate Cyclase 6 Determines cAMP Formation and Aquaporin-2 Phosphorylation and Trafficking in Inner Medulla od Timo Rieg, Tong Tang, Fiona Murray, Jana Schroth, Paul A. Insel, Robert A. Fenton, H. Kirk Hammond, Volker Vallon

    Wydane 2010
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  6. 6
    TRB3 is stimulated in diabetic kidneys, regulated by the ER stress marker CHOP, and is a suppressor of podocyte MCP-1

    TRB3 is stimulated in diabetic kidneys, regulated by the ER stress marker CHOP, and is a suppressor of podocyte MCP-1 od Elizabeth M. Morse, Jana Schroth, Young-Hyun You, Donald Pizzo, Shinichi Okada, Satish RamachandraRao, Volker Vallon, Kumar Sharma, Robyn Cunard

    Wydane 2010
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  7. 7
    Dietary Na<sup>+</sup>inhibits the open probability of the epithelial sodium channel in the kidney by enhancing apical P2Y<sub>2</sub>‐receptor tone

    Dietary Na<sup>+</sup>inhibits the open probability of the epithelial sodium channel in the kidney by enhancing apical P2Y<sub>2</sub>‐receptor tone od Oleh Pochynyuk, Timo Rieg, Vladislav Bugaj, Jana Schroth, Alla Fridman, Gerry R. Boss, Paul A. Insel, James D. Stockand, Volker Vallon

    Wydane 2010
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  8. 8
    Thiazolidinedione-Induced Fluid Retention Is Independent of Collecting Duct αENaC Activity

    Thiazolidinedione-Induced Fluid Retention Is Independent of Collecting Duct αENaC Activity od Volker Vallon, Edith Hümmler, Timo Rieg, Oleh Pochynyuk, Vladislav Bugaj, Jana Schroth, Georges Dechenes, Bernard C. Rossier, Robyn Cunard, James D. Stockand

    Wydane 2009
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  9. 9
    Mutations in CSPP1 Lead to Classical Joubert Syndrome

    Mutations in CSPP1 Lead to Classical Joubert Syndrome od Naiara Akizu, Jennifer L. Silhavy, Rasim Özgür Rosti, Eric Scott, Ali G. Fenstermaker, Jana Schroth, Maha S. Zaki, Henry Sánchez, Neerja Gupta, Madhulika Kabra, Majdi Kara, Tawfeg Ben‐Omran, Başak Rosti, Alicia Guemez‐Gamboa, Emily Spencer, Roger Pan, Na Cai, Mostafa Abdellateef, Stacey Gabriel, Jan Halbritter, Friedhelm Hildebrandt, Hans van Bokhoven, Murat Günel, Joseph G. Gleeson

    Wydane 2013
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  10. 10
    Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy

    Mutations in <i>BCKD-kinase</i> Lead to a Potentially Treatable Form of Autism with Epilepsy od Gaia Novarino, Paul El-Fishawy, Hülya Kayserili, Nagwa A. Meguid, Eric Scott, Jana Schroth, Jennifer L. Silhavy, Majdi Kara, Rehab O. Khalil, Tawfeg Ben‐Omran, A. Gulhan Ercan‐Sencicek, Adel F. Hashish, Stephan Sanders, Abha R. Gupta, Hebatalla S. Hashem, Dietrich Matern, Stacey Gabriel, Larry Sweetman, Yasmeen Rahimi, Robert A. Harris, Matthew W. State, Joseph G. Gleeson

    Wydane 2012
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  11. 11
    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome od Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang, Maha S. Zaki, Majdi Kara, Tawfeg Ben‐Omran, Naiara Akizu, Rasim Özgür Rosti, Başak Rosti, Eric Scott, Jana Schroth, Brett Copeland, Keith K. Vaux, Amaury Cazenave‐Gassiot, Debra Q Y Quek, Bernice H. Wong, Bryan C. Tan, Markus R. Wenk, Murat Günel, Stacey Gabriel, C. Neil, David L. Silver, Joseph G. Gleeson

    Wydane 2015
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  12. 12
    AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

    AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder od Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith K. Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma Müjgan Sönmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Albaradie, Eissa Faqeih, Mohammed A. Saleh, Emily Spencer, Rasim Özgür Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson

    Wydane 2013
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  13. 13
    Exome Sequencing Can Improve Diagnosis and Alter Patient Management

    Exome Sequencing Can Improve Diagnosis and Alter Patient Management od Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E. Schaffer, Jesus Olvera, Vineet Bafna, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Lobna Mansour, Laila Selim, Sawsan Abdel-Hadi, Naïma Marzouki, Tawfeg Ben‐Omran, Nouriya A. Al-Saana, F.M. Sonmez, Figen Celep, Matloob Azam, Kiley J. Hill, Adrienne Collazo, Ali G. Fenstermaker, Gaia Novarino, Naiara Akizu, Kiran Garimella, Carrie Sougnez, Carsten Russ, Stacey Gabriel, Joseph G. Gleeson

    Wydane 2012
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  14. 14
    CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

    CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium od Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Jana Schroth, Stephanie Bielas, Sarah Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M Schlossman, Barry Merriman, Tania Attié‐Bitach, Clare V. Logan, Ian Glass, Andrew Cluckey, Carrie M Louie, Jeong Ho Lee, Hilary R Raynes, Isabelle Rapin, Ignacio P Castroviejo, Mitsutoshi Setou, Clara Barbot, Eugen Boltshauser, Stanley F. Nelson, Friedhelm Hildebrandt, Colin A. Johnson, Daniel Doherty, Enza Maria Valente, Joseph G. Gleeson

    Wydane 2012
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  15. 15
    Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

    Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors od Ketu Mishra-Gorur, Ahmet Okay Çağlayan, Ashleigh E. Schaffer, Chiswili Chabu, Octavian Henegariu, Fernando Vonhoff, Gozde Akgumus, S. Nishimura, Wenqi Han, Shu Tu, Burçin Baran, Hakan Gümüş, Cengiz Dilber, Maha S. Zaki, Heba A.A. Hossni, Jean‐Baptiste Rivière, Hülya Kayserili, Emily Spencer, Rasim Özgür Rosti, Jana Schroth, Hüseyin Per, Caner Çağlar, Çağri Çağlar, Duygu Dölen, Jacob F. Baranoski, Sefer Kumandaş, Frank J. Minja, E. Zeynep Erson‐Omay, Shrikant Mane, Richard P. Lifton, Tian Xu, Haig Keshishian, William B. Dobyns, C. Neil, Nenad Šestan, Angeliki Louvi, Kaya Bilgüvar, Katsuhito Yasuno, Joseph G. Gleeson, Murat Günel

    Wydane 2014
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  16. 16
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction od Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    Wydane 2015
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  17. 17
    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome od Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Özgür Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S. Zaki, Kathryn J. Swoboda, Joanne Milisa-Drautz, William B. Dobyns, Mohamad 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 Gabriel, Pedro Aza‐Blanc, Susanne Heynen‐Genel, Trey Ideker, Brian David Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G. Gleeson

    Wydane 2015
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  18. 18
    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders od Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Başak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hülya Kayserili, Jumana Y. Al‐Aama, Ghada M. H. Abdel‐Salam, Ariana Karminejad, Majdi Kara, Bülent Kara, Babak Bozorgmehri, Tawfeg Ben‐Omran, Faezeh Mojahedi, Iman G. Mahmoud, Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al‐Allawi, Parayil Sankaran Bindu, Matloob Azam, Murat Günel, Ahmet Okay Çağlayan, Kaya Bilgüvar, Aslıhan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily Spencer, Rasim Özgür Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Dürr, Alexis Brice, Giovanni Stévanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson

    Wydane 2014
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