Results 171 to 180 of about 87,553 (201)

A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1

EMBO Journal, 2011
Wulf Blankenfeldt, Roger S. Goody, Aymelt Itzen   +2 more
exaly  

Lowe Syndrome

2012
openaire   +2 more sources

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2

Nature Reviews Nephrology, 2017
Maria Antonietta De Matteis, Leopoldo Staiano, Francesco Emma   +2 more
exaly  

Lowe's syndrome

The American Journal of Medicine, 1959
openaire   +1 more source

Structure and Function of the Lowe Syndrome Protein OCRL1

Traffic, 2005
Martin Lowe
exaly  

Dent-2 Disease: A Mild Variant of Lowe Syndrome

Journal of Pediatrics, 2009
Arend Bokenkamp, Detlef Bockenhauer, Hae Il Cheong   +2 more
exaly  

[Lowe syndrome].

Ryoikibetsu shokogun shirizu, 2002
F, Endo, T, Kawano
openaire   +1 more source

Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease

American Journal of Physiology - Cell Physiology, 2012
Guojin Wu, Ji-Bin Peng
exaly  

Lowe Syndrome

2009
Alexander K. C. Leung, William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, Katerina Tanya B. Perez-Gosiengfiao, Reyna M. Duron, Jesus Machado-Salas, Iris E. Martinez-Juarez, Ma. Rosa Avila, Angela Vincent, John Newsom-Davis*, Vinzenz Oji, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Zvi Laron, Walter Lisch, Andreas Janecke, Berthold Seitz, Birgit Lorenz, Markus N. Preising, Nosratola D. Vaziri, John F. MacGregor, Roger A. Freedman, Thomas Klopstock, Arndt Hartmann, Wolfgang Dietmaier, Markus Böhm, Thomas A. Luger, Gudrun Rappold, Andrea Kelly, Changhong Li, Françoise Vuillier, Amos Etzioni, Cord Sunderkötter, Nandhagopal Ramachandiran, Sandra Sirrs, Jan Ehrchen, Stefan Beissert, Fenella Wojnarowska, Gudula Kirtschig, Alexander K. C. Leung, William Lane M. Robson, Laurent Schild, Bernard C. Rossier, Wolfgang Dietmaier, Arndt Hartmann, Hubert Scharnagl, Winfried März, James M. Gilchrist, Rabah Ben Yaou, Gisèle Bonne, Benedikt G. H. Schoser, Flavia Paula, Mariz Vainzof, Maria Rita Passos-Bueno, Mayana Zatz, Tracey Weiler, Patrick Frosk, Kiaus Wrogemann, Cheryl R. Greenberg, Eloisa De Sá Moreira, Mariz Vainzof, Mayana Zatz, Maria Rita Passos-Bueno, Patrick Frosk, Tracey Weiler, Klaus Wrogemann, Cheryl R. Greenberg, Adel Driss, Silke Hofmann, Leena Bruckner‐Tuderman, Takahiro Hamada, John A. McGrath, August H. M. Smelt, Renzo Guerrini, Carla Marini, Elena Parrini, Cord Sunderkötter, Olav A. Gressner, Sören Siegmund, Stephan Haas, Manfred V. Singer, Matthias Wettstein, Olav A. Gressner, Olav A. Gressner, Dieter Häussinger, Massimo Pinzani, Wataru Shimizu, Charles Antzelevitch, Gérard Gacon, Olivier Dorseuil, Rémi Salomon, Joël Lunardi, Rade Tomic, Jesse Roman, Michelle A. Carey, Darryl C. Zeldin, Hideto Kameda, Jonathan Corren, Johannes C. Nossent, Alexander Olivares-Reyes, Tobias A. Rupprecht, Hans-Walter Pfister, Volker Fingerle, Rui-Cheng Ji, Chitra Suri, Marlys H. Witte, Lubomir Sokol, Jürgen Schölmerich, Martina Deckert, Reiner Siebert, Manuel Montesinos-Rongen, Cornelius Courts, Heinrich Schwindt, Anna Brunn, Werner Kempf, Reinhard Dummer, Günter Burg, Sylvain Latour, Karsten Schulmann, Christian Pox, Wolff Schmiegel, Laura M. Tanner   +126 more
openaire   +1 more source

[Lowe syndrome(oculocerebrorenal syndrome of Lowe; OCRL)].

Ryoikibetsu shokogun shirizu, 2001
openaire   +1 more source