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Items: 1 to 20 of 23

1.
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
AbstractArticlePDF–815K
2.
Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins
Simon R. F. Warburton-Pitt, Andrew R. Jauregui, Chunmei Li, Juan Wang, Michel R. Leroux, Maureen M. Barr
J Cell Sci. 2012 Jun 1; 125(11): 2592–2603. doi: 10.1242/jcs.095539
PMCID:
PMC3403231
AbstractArticle
3.
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment
Dapeng Zhang, L. Aravind
Cell Cycle. 2012 Oct 15; 11(20): 3861–3875. doi: 10.4161/cc.22068
PMCID:
PMC3495828
AbstractArticlePDF–3.9M
4.
An Alternative Model for the Role of RP2 Protein in Flagellum Assembly in the African Trypanosome
Jane Andre, Louise Kerry, Xin Qi, Erica Hawkins, Kristina Drižytė, Michael L. Ginger, Paul G. McKean
J Biol Chem. 2014 Jan 3; 289(1): 464–475. Published online 2013 Nov 20. doi: 10.1074/jbc.M113.509521
PMCID:
PMC3879569
AbstractArticlePDF–1.8M
5.
Subcellular localization of the voltage-gated K+ channel EGL-36 , a member of the KV3 subfamily, in the ciliated sensory neurons in C. elegans
Sebiha Cevik, Oktay I. Kaplan
MicroPubl Biol. 2021; 2021: 10.17912/micropub.biology.000367. Published online 2021 Mar 5. doi: 10.17912/micropub.biology.000367
PMCID:
PMC7936254
AbstractArticlePDF–627K
6.
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone
Wesley R. Lewis, Katie L. Bales, Dustin Z. Revell, Mandy J. Croyle, Staci E. Engle, Cheng Jack Song, Erik B. Malarkey, Cedric R. Uytingco, Dan Shan, Patrick J. Antonellis, Tim R. Nagy, Robert A. Kesterson, Michal M. Mrug, Jeffrey R. Martens, Nicolas F. Berbari, Alecia K. Gross, Bradley K. Yoder
FASEB J. 2019 Jan; 33(1): 1440–1455. Published online 2018 Aug 22. doi: 10.1096/fj.201801149R
PMCID:
PMC6355093
AbstractArticle
7.
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone
Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux
PLoS Biol. 2016 Mar; 14(3): e1002416. Published online 2016 Mar 16. doi: 10.1371/journal.pbio.1002416
PMCID:
PMC4794247
AbstractArticlePDF–8.5M
8.
Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson
Cell. Author manuscript; available in PMC 2012 Jun 26.
Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019
PMCID:
PMC3383065
AbstractArticlePDF–2.0M
9.
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger
Dis Model Mech. 2015 Jun 1; 8(6): 527–541. doi: 10.1242/dmm.019083
PMCID:
PMC4457033
AbstractArticle
10.
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
Corey L. Williams, Chunmei Li, Katarzyna Kida, Peter N. Inglis, Swetha Mohan, Lucie Semenec, Nathan J. Bialas, Rachel M. Stupay, Nansheng Chen, Oliver E. Blacque, Bradley K. Yoder, Michel R. Leroux
J Cell Biol. 2011 Mar 21; 192(6): 1023–1041. doi: 10.1083/jcb.201012116
PMCID:
PMC3063147
AbstractArticlePDF–6.2M
11.
Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
Ingeborg Barisic, Ljubica Boban, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Jorieke EH Bergman, Paula Braz, Elizabeth S Draper, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Anna Pierini, Annette Queisser-Luft, Judith Rankin, Anke Rissmann, Christine Verellen-Dumoulin
Eur J Hum Genet. 2015 Jun; 23(6): 746–752. Published online 2014 Sep 3. doi: 10.1038/ejhg.2014.174
PMCID:
PMC4795048
AbstractArticlePDF–306K
12.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente
J Med Genet. 2016 Sep; 53(9): 608–615. Published online 2016 May 6. doi: 10.1136/jmedgenet-2016-103832
PMCID:
PMC5013089
AbstractArticlePDF–797K
13.
Meckel–Gruber syndrome: ultrasonographic and fetal autopsy correlation
Shruti Khurana, Vikram Saini, Vibhor Wadhwa, Harveen Kaur
J Ultrasound. 2017 Jun; 20(2): 167–170. Published online 2017 Jan 4. doi: 10.1007/s40477-016-0231-4
PMCID:
PMC5440330
AbstractArticlePDF–924K
14.
15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes
Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz-Pérez, Jaclyn S. Lee, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet
J Med Genet. Author manuscript; available in PMC 2017 Aug 15.
Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 371–380. Published online 2017 Mar 13. doi: 10.1136/jmedgenet-2016-104436
PMCID:
PMC5557276
AbstractArticlePDF–786K
15.
Meckel syndrome.
R Salonen, P Paavola
J Med Genet. 1998 Jun; 35(6): 497–501. doi: 10.1136/jmg.35.6.497
PMCID:
PMC1051345
SummaryPage BrowsePDF–1.8M
16.
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
Katharina Hopp, Christina M. Heyer, Cynthia J. Hommerding, Susan A. Henke, Jamie L. Sundsbak, Shail Patel, Priyanka Patel, Mark B. Consugar, Peter G. Czarnecki, Troy J. Gliem, Vicente E. Torres, Sandro Rossetti, Peter C. Harris
Hum Mol Genet. 2011 Jul 1; 20(13): 2524–2534. Published online 2011 Apr 14. doi: 10.1093/hmg/ddr151
PMCID:
PMC3109998
AbstractArticlePDF–371K
17.
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
Francesc R. Garcia-Gonzalo, Kevin C. Corbit, María Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A. Otto, Thomas R. Noriega, Allen D. Seol, Jon F. Robinson, Christopher L. Bennett, Dragana J. Josifova, José Manuel García-Verdugo, Nicholas Katsanis, Friedhelm Hildebrandt, Jeremy F. Reiter
Nat Genet. Author manuscript; available in PMC 2012 Feb 1.
Published in final edited form as: Nat Genet. 2011 Aug; 43(8): 776–784. Published online 2011 Jul 3. doi: 10.1038/ng.891
PMCID:
PMC3145011
AbstractArticlePDF–2.3M
18.
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant
Dis Model Mech. 2022 Dec 1; 15(12): dmm049568. Published online 2022 Dec 19. doi: 10.1242/dmm.049568
PMCID:
PMC9844136
AbstractArticle
19.
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting
Melissa C. Humbert, Katie Weihbrecht, Charles C. Searby, Yalan Li, Robert M. Pope, Val C. Sheffield, Seongjin Seo
Proc Natl Acad Sci U S A. 2012 Nov 27; 109(48): 19691–19696. Published online 2012 Nov 12. doi: 10.1073/pnas.1210916109
PMCID:
PMC3511769
AbstractArticlePDF–905K
20.
Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis
Shobi Veleri, Souparnika H. Manjunath, Robert N. Fariss, Helen May-Simera, Matthew Brooks, Trevor A. Foskett, Chun Gao, Teresa A. Longo, Pinghu Liu, Kunio Nagashima, Rivka A. Rachel, Tiansen Li, Lijin Dong, Anand Swaroop
Nat Commun. Author manuscript; available in PMC 2014 Dec 20.
Published in final edited form as: Nat Commun. 2014; 5: 4207. Published online 2014 Jun 20. doi: 10.1038/ncomms5207
PMCID:
PMC4096663
AbstractArticlePDF–1.5M

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