Results 161 to 170 of about 12,422 (262)

Ancient Origin of Chaperonin Gene Paralogs Involved in Ciliopathies

, 2013
Krishanu Mukherjee
openalex   +1 more source

KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies [PDF]

, 2015
Marijn Stokman, Machteld M. Oud, Jeroen van Reeuwijk, Marc R. Liliën, Nicole C. A. J. van de Kar, Isaäc J. Nijman, Christian Gilissen, HY Kroes, Ernie M.H.F. Bongers, Niels Geijsen, Erik‐Jan Kamsteeg, Edwin Cuppen, Ronald Roepman, Rachel H. Giles, Kirsten Y. Renkema, Heleen H. Arts, Nine Knoers   +16 more
openalex   +1 more source

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery [PDF]

, 2016
Michinori Toriyama, Chanjae Lee, S. Paige Taylor, Iván Durán, Daniel H. Cohn, Ange‐Line Bruel, Jacqueline M. Tabler, Kevin Drew, Marcus R. Kelly, Sukyoung Kim, Tae Joo Park, Daniela A. Braun, Ghislaine Pierquin, Armand Biver, Kerstin Wagner, Anne Malfroot, Inusha Panigrahi, Brunella Franco, Hadeel Adel Al-Lami, Yvonne Yeung, Yeon Ja Choi, Yannis Duffourd, Laurence Faivre, Jean‐Baptiste Rivière, Jiang Chen, Karen Liu, Edward M. Marcotte, Friedhelm Hildebrandt, Christel Thauvin‐Robinet, Deborah Krakow, Peter K. Jackson, John B. Wallingford   +31 more
openalex   +1 more source

A liquid-like organelle at the root of motile ciliopathy [PDF]

, 2018
Boulgakov, Alexander A, Brody, Steven L, Horani, Amjad, Huizar, Ryan L, Lee, Chanjae, Marcotte, Edward M, Tu, Fan, Wallingford, John B   +7 more
core   +1 more source

Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes. [PDF]

Front Vet Sci
Toler S, Abrams K, Ward D.
europepmc   +1 more source

A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice

, 2014
Péter Ács, Peter Bauer, Balázs Mayer, Tapan K. Bera, Rhonda MacAllister, Éva Mezey, Ira Pastan   +6 more
openalex   +2 more sources

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel [PDF]

, 2016
Mohamed H. Al‐Hamed, Wesam Kurdi, Nada Alsahan, Zainab Alabdullah, Rania Abudraz, Maha Tulbah, Maha Alnemer, Rubina Khan, Haya Aljurayb, Ahmed S. Alahmed, Asma I. Tahir, Dania S. Khalil, Noel Edwards, Basma Al Abdulaziz, Faisal S. BinHumaid, Salma Majid, Tariq Faquih, Mohamed El-Kalioby, Mohamed Abouelhoda, Nada Al Tassan, Dorota Monies, Brian F. Meyer, John A. Sayer, Mamdouh Albaqumi   +23 more
openalex   +1 more source

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. [PDF]

, 2011
Foini P, Izzi C, Maffei P, Marega A, Marshall J, Milan G, Scolari F., Tardanico R   +7 more
core   +1 more source

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome. [PDF]

PLoS Genet
Leong WY, Tung WL, Wilkie AOM, Hor CHH.
europepmc   +1 more source

Renal Transplant in a Bardet-Biedl Syndrome Patient: A First Case From Azerbaijan. [PDF]

Case Rep Med
Sholan R, Aliyev R, Bakhshaliyeva N, Almazkhanli A, Ismayilov R, Sultan M.   +5 more
europepmc   +1 more source