PMC Links for OMIM (Select 609884) - PMC

Select item 61173431.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

Francesco Brancati, Letizia Camerota, Emma Colao, Virginia Vega-Warner, Xiangzhong Zhao, Ruixiao Zhang, Irene Bottillo, Marco Castori, Alfredo Caglioti, Federica Sangiuolo, Giuseppe Novelli, Nicola Perrotti, Edgar A. Otto, Undiagnosed Disease Network Italy

Eur J Hum Genet. 2018 Sep; 26(9): 1266–1271. Published online 2018 Jun 11. doi: 10.1038/s41431-018-0183-6

PMCID:: PMC6117343

Abstract Article PDF–1.4M

Select item 35968472.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymanska, Subaashini Natarajan, Carmel Toomes, Chris Inglehearn, Colin A. Johnson

Hum Mol Genet. 2013 Apr 1; 22(7): 1358–1372. Published online 2013 Jan 2. doi: 10.1093/hmg/dds546

PMCID:: PMC3596847

Abstract Article PDF–6.5M

Select item 35019593.

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

Abstract Article PDF–1.1M

Select item 32841174.

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

Abstract Article PDF–722K

Select item 32238205.

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Claudia Dafinger, Max Christoph Liebau, Solaf Mohamed Elsayed, Yorck Hellenbroich, Eugen Boltshauser, Georg Christoph Korenke, Francesca Fabretti, Andreas Robert Janecke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg, Hanswalter Zentgraf, Friederike Koerber, Klaus Addicks, Ezzat Elsobky, Thomas Benzing, Bernhard Schermer, Hanno Jörn Bolz

J Clin Invest. 2011 Jul 1; 121(7): 2662–2667. Published online 2011 Jun 1. doi: 10.1172/JCI43639

PMCID:: PMC3223820

Abstract Article PDF–3.6M

Select item 31450116.

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

Abstract Article PDF–2.3M

Select item 30631477.

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

Abstract Article PDF–6.2M

Select item 27338218.

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

Abstract Article PDF–757K

Select item 26354289.

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

Abstract Article PDF–347K

Select item 178531310.

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

Abstract Article PDF–2.0M

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