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Items: 1 to 20 of 21

1.
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome
Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, Angela Elvira Covone
Genes (Basel) 2023 Apr; 14(4): 810. Published online 2023 Mar 28. doi: 10.3390/genes14040810
PMCID:
PMC10137517
ArticlePDF–1.5M
2.
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel
Mohamed H Al-Hamed, Wesam Kurdi, Nada Alsahan, Zainab Alabdullah, Rania Abudraz, Maha Tulbah, Maha Alnemer, Rubina Khan, Haya Al-Jurayb, Ahmed Alahmed, Asma I Tahir, Dania Khalil, Noel Edwards, Basma Al Abdulaziz, Faisal S Binhumaid, Salma Majid, Tariq Faquih, Mohamed El-Kalioby, Mohamed Abouelhoda, Nada Altassan, Dorota Monies, Brian Meyer, John A Sayer, Mamdouh Albaqumi
J Med Genet. 2016 May; 53(5): 338–347. Published online 2016 Feb 9. doi: 10.1136/jmedgenet-2015-103469
PMCID:
PMC4853542
ArticlePDF–2.1M
3.
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, Sophie Audollent, Nadia Elkhartoufi, Candice Babarit, Stéphane Romano, Rémi Salomon, Jeanne Amiel, Chantal Esculpavit, Marie Gonzales, Estelle Escudier, Bruno Leheup, Philippe Loget, Sylvie Odent, Joëlle Roume, Marion Gérard, Anne-Lise Delezoide, Suonavy Khung, Sophie Patrier, Marie-Pierre Cordier, Raymonde Bouvier, Jéléna Martinovic, Marie-Claire Gubler, Nathalie Boddaert, Arnold Munnich, Férechté Encha-Razavi, Enza Maria Valente, Ali Saad, Sophie Saunier, Michel Vekemans, Tania Attié-Bitach
Hum Mutat. Author manuscript; available in PMC 2010 Nov 1.
Published in final edited form as: Hum Mutat. 2009 Nov; 30(11): 1574–1582. doi: 10.1002/humu.21116
PMCID:
PMC2783384
ArticlePDF–1.2M
4.
Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
Jonna Tallila, Eveliina Jakkula, Leena Peltonen, Riitta Salonen, Marjo Kestilä
Am J Hum Genet. 2008 Jun 6; 82(6): 1361–1367. Published online 2008 May 30. doi: 10.1016/j.ajhg.2008.05.004
PMCID:
PMC2427307
ArticlePDF–815K
5.
CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Zahid Kamal Siddiqui, Farooq Naeem, Andrew D. Paterson, Muhammad Lutfullah, John B. Vincent, Muhammad Ayub
Am J Hum Genet. 2008 Apr 11; 82(4): 1011–1018. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.021
PMCID:
PMC2427291
ArticlePDF–1.2M
6.
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies
Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer
Mol Genet Genomic Med. 2021 Dec; 9(12): e1603. Published online 2021 Jan 24. doi: 10.1002/mgg3.1603
PMCID:
PMC8683696
ArticlePDF–1.5M
7.
CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Andrew D. Paterson, Muhammad Lutufullah, Dan Doherty, John B. Vincent, Muhammad Ayub
Am J Hum Genet. 2008 Nov 17; 83(5): 656. doi: 10.1016/j.ajhg.2008.10.005
PMCID:
PMC2674770
ArticlePDF–32K
8.
Primary cilia biogenesis and associated retinal ciliopathies
Holly Y. Chen, Ryan A. Kelley, Tiansen Li, Anand Swaroop
Semin Cell Dev Biol. Author manuscript; available in PMC 2021 Feb 9.
Published in final edited form as: Semin Cell Dev Biol. 2021 Feb; 110: 70–88. Published online 2020 Jul 31. doi: 10.1016/j.semcdb.2020.07.013
PMCID:
PMC7855621
ArticlePDF–1.5M
9.
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass
J Med Genet. Author manuscript; available in PMC 2012 Nov 20.
Published in final edited form as: J Med Genet. 2010 Jan; 47(1): 8–21. Published online 2009 Jul 1. doi: 10.1136/jmg.2009.067249
PMCID:
PMC3501959
ArticlePDF–1.1M
10.
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi, Karlien L.M. Coene, Stef J.F. Letteboer, Sylvia E.C. van Beersum, Dorus A. Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen, Abdulrahman F. Alswaid, Hamit Özyurek, Sel Dibooglu, Edgar A. Otto, Yangfan Liu, Erica E. Davis, Carolyn M. Hutter, Theo K. Bammler, Frederico M. Farin, Michael Dorschner, Meral Topçu, Elaine H. Zackai, Phillip Rosenthal, Kelly N. Owens, Nicholas Katsanis, John B. Vincent, Friedhelm Hildebrandt, Edwin W. Rubel, David W. Raible, Nine V.A.M. Knoers, Phillip F. Chance, Ronald Roepman, Cecilia B. Moens, Ian A. Glass, Dan Doherty
Am J Hum Genet. 2008 Nov 17; 83(5): 559–571. doi: 10.1016/j.ajhg.2008.10.002
PMCID:
PMC2668034
ArticlePDF–1.0M
11.
Genome-wide association study of conduct disorder symptomatology
DM Dick, F Aliev, RF Krueger, A Edwards, A Agrawal, M Lynskey, P Lin, M Schuckit, V Hesselbrock, J Nurnberger, Jr, L Almasy, B Porjesz, HJ Edenberg, K Bucholz, J Kramer, S Kuperman, L Bierut
Mol Psychiatry. Author manuscript; available in PMC 2013 Feb 25.
Published in final edited form as: Mol Psychiatry. 2011 Aug; 16(8): 800–808. Published online 2010 Jun 29. doi: 10.1038/mp.2010.73
PMCID:
PMC3580835
ArticlePDF–684K
12.
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy
Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt
J Med Genet. Author manuscript; available in PMC 2014 Feb 4.
Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552
Correction in:
J Med Genet. 2015 Dec; 52(12): 866.
PMCID:
PMC3913043
ArticlePDF–3.0M
13.
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A. Mans, Sylvia E. C. van Beersum, Ian G. Phelps, Heleen H. Arts, Jan E. Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B. Moens, Stephan C. F. Neuhauss, Hannie Kremer, Erwin van Wijk
PLoS Genet. 2015 Oct; 11(10): e1005575. Published online 2015 Oct 20. doi: 10.1371/journal.pgen.1005575
PMCID:
PMC4617701
ArticlePDF–13M
14.
Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population
Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte
PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954
PMCID:
PMC3522587
ArticlePDF–130K
15.
Gain of additional BIRC3 protein functions through 3′UTR-mediated protein complex formation
Shih-Han Lee, Christine Mayr
Mol Cell. Author manuscript; available in PMC 2020 May 16.
Published in final edited form as: Mol Cell. 2019 May 16; 74(4): 701–712.e9. Published online 2019 Apr 1. doi: 10.1016/j.molcel.2019.03.006
PMCID:
PMC6581197
ArticlePDF–2.0M
16.
A dynamic protein interaction landscape of the human centrosome-cilium interface
Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier
Cell. Author manuscript; available in PMC 2016 Dec 3.
Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065
PMCID:
PMC5089374
ArticlePDF–1.5M
17.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
ArticlePDF–438K
18.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
ArticlePDF–2.7M
19.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
ArticlePDF–2.2M
20.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
ArticlePDF–118K

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