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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.06602
By:
- Roosing, Susanne;
- Hofree, Matan;
- Sehyun Kim;
- Scott, Eric;
- Copeland, Brett;
- Romani, Marta;
- Silhavy, Jennifer L.;
- Rosti, Rasim O.;
- Schroth, Jana;
- Mazza, Tommaso;
- Miccinilli, Elide;
- Zaki, Maha S.;
- Swoboda, Kathryn J.;
- Milisa-Drautz, Joanne;
- Dobyns, William B.;
- Mikati, Mohamed A.;
- İncecik, Faruk;
- Azam, Matloob;
- Borgatti, Renato;
- Romaniello, Romina
Publication type:
Article
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Published in:
Nature Genetics, 2015, v. 47, n. 7, p. 809, doi. 10.1038/ng.3311
By:
- Guemez-Gamboa, Alicia;
- Akizu, Naiara;
- Rosti, Rasim Ozgur;
- Rosti, Basak;
- Scott, Eric;
- Schroth, Jana;
- Copeland, Brett;
- Vaux, Keith K;
- Gleeson, Joseph G;
- Nguyen, Long N;
- Quek, Debra Q Y;
- Wong, Bernice H;
- Tan, Bryan C;
- Silver, David L;
- Yang, Hongbo;
- Chi, Neil C;
- Zaki, Maha S;
- Kara, Majdi;
- Ben-Omran, Tawfeg;
- Cazenave-Gassiot, Amaury
Publication type:
Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Published in:
Nature Genetics, 2012, v. 44, n. 2, p. 193, doi. 10.1038/ng.1078
By:
- Lee, Ji Eun;
- Silhavy, Jennifer L;
- Zaki, Maha S;
- Schroth, Jana;
- Bielas, Stephanie L;
- Marsh, Sarah E;
- Olvera, Jesus;
- Brancati, Francesco;
- Iannicelli, Miriam;
- Ikegami, Koji;
- Schlossman, Andrew M;
- Merriman, Barry;
- Attié-Bitach, Tania;
- Logan, Clare V;
- Glass, Ian A;
- Cluckey, Andrew;
- Louie, Carrie M;
- Lee, Jeong Ho;
- Raynes, Hilary R;
- Rapin, Isabelle
Publication type:
Article
Subcellular spatial regulation of canonical Wnt signalling at the primary cilium.
Published in:
Nature Cell Biology, 2011, v. 13, n. 6, p. 702, doi. 10.1038/ncb2259
By:
- Lancaster, Madeline A.;
- Schroth, Jana;
- Gleeson, Joseph G.
Publication type:
Article
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.
Published in:
FASEB Journal, 2010, v. 24, n. 6, p. 2056, doi. 10.1096/fj.09-151506
By:
- Pochynyuk, Oleh;
- Rieg, Timo;
- Bugaj, Vladislav;
- Schroth, Jana;
- Fridman, Alla;
- Boss, Gerry R.;
- Insel, Paul A.;
- Stockand, James D.;
- Vallon, Volker
Publication type:
Article
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Published in:
2018
By:
- Guemez‐Gamboa, Alicia;
- Çağlayan, Ahmet Okay;
- Stanley, Valentina;
- Gregor, Anne;
- Zaki, Maha S.;
- Saleem, Sahar N.;
- Musaev, Damir;
- McEvoy‐Venneri, Jennifer;
- Belandres, Denice;
- Akizu, Naiara;
- Silhavy, Jennifer L.;
- Schroth, Jana;
- Rosti, Rasim Ozgur;
- Copeland, Brett;
- Lewis, Steven M.;
- Fang, Rebecca;
- Issa, Mahmoud Y.;
- Per, Huseyin;
- Gumus, Hakan;
- Bayram, Ayse Kacar
Publication type:
journal article
Exome Sequencing Can Improve Diagnosis and Alter Patient Management.
Published in:
Science Translational Medicine, 2012, v. 4, n. 138, p. 1, doi. 10.1126/scitranslmed.3003544
By:
- Dixon-Salazar, Tracy J.;
- Silhavy, Jennifer L.;
- Udpa, Nitin;
- Schroth, Jana;
- Bielas, Stephanie;
- Schaffer, Ashleigh E.;
- Olvera, Jesus;
- Bafna, Vineet;
- Zaki, Maha S.;
- Abdel-Salam, Ghada H.;
- Mansour, Lobna A.;
- Selim, Laila;
- Abdel-Hadi, Sawsan;
- Marzouki, Naima;
- Ben-Omran, Tawfeg;
- Al-Saana, Nouriya A.;
- Sonmez, F. Müjgan;
- Celep, Figen;
- Azam, Matloob;
- Hill, Kiley J.
Publication type:
Article

Found: 7

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

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

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

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

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.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Exome Sequencing Can Improve Diagnosis and Alter Patient Management.