Results 141 to 150 of about 11,057 (243)

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

Primary cilia biogenesis and associated retinal ciliopathies

Seminars in Cell and Developmental Biology, 2020
H. Chen, Ryan A. Kelley, Tiansen Li, A. Swaroop   +3 more
semanticscholar   +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

In situ proximity ligation assay for analysing spatial interactions between ciliary proteins. [PDF]

BMC Mol Cell Biol
Pfirrmann T, Rüther U, Gerhardt C.
europepmc   +1 more source

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

PATJ deficiency leads to cystic kidney disease and related ciliopathies. [PDF]

HGG Adv
Epting D, Braun DA, Decker E, Ott E, Eisenberger T, Bachmann N, Nedvetsky P, Krahn MP, Hildebrandt F, Bergmann C.   +9 more
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

Limitations and opportunities in the pharmacotherapy of ciliopathies.

Pharmacology and Therapeutics, 2021
Max Duong Phu, Stefan Bross, M. Burkhalter, M. Philipp   +3 more
semanticscholar   +1 more source

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Frontiers in Genetics, 2019
Gabrielle Wheway, Hannah M. Mitchison, Genomics England Research Consortium   +2 more
doaj   +1 more source