Results 171 to 180 of about 9,301 (255)

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

TALPID3 in Joubert Syndrome and related ciliopathy disorders [PDF]

, 2019
Davey, Megan, Fraser, Amy
core   +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 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

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis. [PDF]

Hum Mol Genet
Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL, Akpa MM, Chung CF, Rivière JB, Pupavac M, Li R, Rosenblatt DS, Majewski J, Goodyer PR, Torban E, Kitzler TM.   +15 more
europepmc   +1 more source

Screening ciliopathy genes in the model organism Trypanosoma brucei [PDF]

, 2012
K Towers, S Barry, S Vaughan
core   +1 more source

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy [PDF]

, 2017
Johannes Birtel, Martin Gliem, Elisabeth Mangold, Lars Tebbe, Isabel Spier, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Uwe Wolfrum, Hanno J. Bolz, Peter Charbel Issa   +10 more
openalex   +1 more source

Editorial: Genetics and mechanism of ciliopathies

Frontiers in Genetics, 2022
Steven Lim Cho Pei, Brian Hon Yin Chung, Brian Hon Yin Chung   +2 more
openaire   +3 more sources

Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia. [PDF]

Cells
Quelhas P, Morgado D, Santos JD.
europepmc   +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