Results 141 to 150 of about 12,198 (227)

Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies. [PDF]

Sci Rep
Bresch J, König J, Konrad M, Kollmann S, Dahmer-Heath M, Heinzow HS, Praktiknjo M, Trebicka J, Bergmann C, Schmidt HH, Schlevogt B.   +10 more
europepmc   +1 more source

Ancient Origin of Chaperonin Gene Paralogs Involved in Ciliopathies

, 2013
Krishanu Mukherjee
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

Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications. [PDF]

Adv Sci (Weinh)
Wang Z, Zhu X, Huang Z, Ren K, Ran J, Yang Y.   +5 more
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

Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management. [PDF]

Biomolecules
Zhou D, Zeng Y, Luo W, Leng C, Li C.
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

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

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome. [PDF]

Hum Genomics
García-Bohórquez B, Marín-Reina P, Aller E, Barberán-Martínez P, Armengot M, Llorens-Salvador R, Almor-Palacios IC, Millán JM, García-García G.   +8 more
europepmc   +1 more source

Basel exon skipping - a novel model of disease pathogenesis to explain CEP290-associated retinal degeneration and related ciliopathies

, 2014
Adam Wojno, Theodore G. Drivas, Budd A. Tucker, Edwin M. Stone, Jean Bennett   +4 more
openalex   +1 more source