Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus.
Frontiers In Genetics
Cannarella, Rossella R; Maniscalchi, Eugenia Tiziana ET; Condorelli, Rosita Angela RA; Scalia, Marina M; Guerri, Giulia G; La Vignera, Sandro S; Bertelli, Matteo M; Calogero, Aldo Eugenio AE
Publication Date: 2020
Variant appearance in text: CCDC39: 1781C>T; Thr594Ile
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: CCDC39: T594I; rs140505857
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Nature Genetics
Merveille, Anne-Christine AC; Davis, Erica E EE; Becker-Heck, Anita A; Legendre, Marie M; Amirav, Israel I; Bataille, Géraldine G; Belmont, John J; Beydon, Nicole N; Billen, Frédéric F; Clément, Annick A; Clercx, Cécile C; Coste, André A; Crosbie, Rachelle R; de Blic, Jacques J; Deleuze, Stephane S; Duquesnoy, Philippe P; Escalier, Denise D; Escudier, Estelle E; Fliegauf, Manfred M; Horvath, Judith J; Hill, Kent K; Jorissen, Mark M; Just, Jocelyne J; Kispert, Andreas A; Lathrop, Mark M; Loges, Niki Tomas NT; Marthin, June K JK; Momozawa, Yukihide Y; Montantin, Guy G; Nielsen, Kim G KG; Olbrich, Heike H; Papon, Jean-François JF; Rayet, Isabelle I; Roger, Gilles G; Schmidts, Miriam M; Tenreiro, Henrique H; Towbin, Jeffrey A JA; Zelenika, Diana D; Zentgraf, Hanswalter H; Georges, Michel M; Lequarré, Anne-Sophie AS; Katsanis, Nicholas N; Omran, Heymut H; Amselem, Serge S