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Items: 19

1.
Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation
Joon W. Shim, Paul R. Territo, Stefanie Simpson, John C. Watson, Lei Jiang, Amanda A. Riley, Brian McCarthy, Scott Persohn, Daniel Fulkerson, Bonnie L. Blazer-Yost
Sci Rep. 2019; 9: 1069. Published online 2019 Jan 31. doi: 10.1038/s41598-018-37620-5
PMCID:
PMC6355840
AbstractArticlePDF–7.4M
2.
Characteristics of liver disease in 100 Individuals with Joubert syndrome prospectively evaluated at a single center
Anna Strongin, Theo Heller, Dan Doherty, Ian A. Glass, Melissa A. Parisi, Joy Bryant, Peter Choyke, Baris Turkbey, Kailash Daryanani, Deniz Yildirimli, Meghana Vemulapalli, Jim C. Mullikin, NISC Comparative Sequencing Program, May C. Malicdan, Thierry Vilboux, William A. Gahl, Meral Gunay-Aygun
J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2019 Mar 1.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2018 Mar; 66(3): 428–435. doi: 10.1097/MPG.0000000000001816
PMCID:
PMC5825259
AbstractArticlePDF–345K
3.
Prospective Evaluation of Kidney Disease in Joubert Syndrome
Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun
Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517
PMCID:
PMC5718273
AbstractArticle
4.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque
Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273
PMCID:
PMC5580800
AbstractArticlePDF–2.4M
5.
Global genetic analysis in mice unveils central role for cilia in congenital heart disease
You Li, Nikolai T. Klena, George C Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia W. Lo
Nature. Author manuscript; available in PMC 2015 Nov 28.
Published in final edited form as: Nature. 2015 May 28; 521(7553): 520–524. Published online 2015 Mar 25. doi: 10.1038/nature14269
PMCID:
PMC4617540
AbstractArticlePDF–518K
6.
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China
Manli Zhang, Jing Cheng, Aijun Liu, Longxia Wang, Lihua Xiong, Meixia Chen, Yi Sun, Jianzhong Li, Yu Lu, Huijun Yuan, Yali Li, Yanping Lu
Int J Clin Exp Pathol. 2015; 8(5): 5379–5386. Published online 2015 May 1.
PMCID:
PMC4503111
AbstractArticlePDF–1.2M
7.
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
8.
Meckelin 3 Is Necessary for Photoreceptor Outer Segment Development in Rat Meckel Syndrome
Sarika Tiwari, Scott Hudson, Vincent H. Gattone, II, Caroline Miller, Ellen A. G. Chernoff, Teri L. Belecky-Adams
PLoS One. 2013; 8(3): e59306. Published online 2013 Mar 13. doi: 10.1371/journal.pone.0059306
PMCID:
PMC3596335
AbstractArticlePDF–5.2M
9.
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
Katarzyna Szymanska, Ian Berry, Clare V Logan, Simon RR Cousins, Helen Lindsay, Hussain Jafri, Yasmin Raashid, Saghira Malik-Sharif, Bruce Castle, Mushtag Ahmed, Chris Bennett, Ruth Carlton, Colin A Johnson
Cilia. 2012; 1: 18. Published online 2012 Oct 1. doi: 10.1186/2046-2530-1-18
PMCID:
PMC3579735
AbstractArticlePDF–263K
10.
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
AbstractArticlePDF–1.1M
11.
A meckelin–filamin A interaction mediates ciliogenesis
Matthew Adams, Roslyn J. Simms, Zakia Abdelhamed, Helen R. Dawe, Katarzyna Szymanska, Clare V. Logan, Gabrielle Wheway, Eva Pitt, Keith Gull, Margaret A. Knowles, Edward Blair, Sally H. Cross, John A. Sayer, Colin A. Johnson
Hum Mol Genet. 2012 Mar 15; 21(6): 1272–1286. Published online 2011 Nov 25. doi: 10.1093/hmg/ddr557
PMCID:
PMC3284117
AbstractArticlePDF–722K
12.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
13.
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
14.
Renal Cystic Disease Proteins Play Critical Roles in the Organization of the Olfactory Epithelium
Jennifer L. Pluznick, Diego J. Rodriguez-Gil, Michael Hull, Kavita Mistry, Vincent Gattone, Colin A. Johnson, Scott Weatherbee, Charles A. Greer, Michael J. Caplan
PLoS One. 2011; 6(5): e19694. Published online 2011 May 13. doi: 10.1371/journal.pone.0019694
PMCID:
PMC3094399
AbstractArticlePDF–2.3M
15.
Meckel-Gruber Syndrome Protein MKS3 Is Required for Endoplasmic Reticulum-associated Degradation of Surfactant Protein C
Mei Wang, James P. Bridges, Cheng-Lun Na, Yan Xu, Timothy E. Weaver
J Biol Chem. 2009 Nov 27; 284(48): 33377–33383. Published online 2009 Oct 8. doi: 10.1074/jbc.M109.034371
PMCID:
PMC2785181
AbstractArticlePDF–1.3M
16.
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
Rachaneekorn Tammachote, Cynthia J. Hommerding, Rachel M. Sinders, Caroline A. Miller, Peter G. Czarnecki, Amanda C. Leightner, Jeffrey L. Salisbury, Christopher J. Ward, Vicente E. Torres, Vincent H. Gattone, II, Peter C. Harris
Hum Mol Genet. 2009 Sep 1; 18(17): 3311–3323. Published online 2009 Jun 10. doi: 10.1093/hmg/ddp272
PMCID:
PMC2733821
AbstractArticlePDF–757K
17.
A Mouse Model for Meckel Syndrome Type 3
Susan A. Cook, Gayle B. Collin, Roderick T. Bronson, Jürgen K. Naggert, Dong P. Liu, Ellen C. Akeson, Muriel T. Davisson
J Am Soc Nephrol. 2009 Apr; 20(4): 753–764. doi: 10.1681/ASN.2008040412
PMCID:
PMC2663826
AbstractArticle
18.
MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement
Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Loncarevic, Vlatka Mejaski-Bosnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo D. Salpietro, Sabrina Signorini, Gilda Rita Stringini, Alain Verloes, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente
Hum Mutat. Author manuscript; available in PMC 2010 Feb 1.
Published in final edited form as: Hum Mutat. 2009 Feb; 30(2): E432–E442. doi: 10.1002/humu.20924
PMCID:
PMC2635428
AbstractArticlePDF–347K
19.
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome
Lekbir Baala, Stéphane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Arnold Munnich, Stanislas Lyonnet, Rémi Salomon, Férechté Encha-Razavi, Marie-Claire Gubler, Nathalie Boddaert, Pascale de Lonlay, Colin A. Johnson, Michel Vekemans, Corinne Antignac, Tania Attié-Bitach
Am J Hum Genet. 2007 Jan; 80(1): 186–194. Published online 2006 Nov 15. doi: 10.1086/510499
PMCID:
PMC1785313
AbstractArticlePDF–2.0M

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