PMC Articles for MedGen (Select 335402) - PMC

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 29254444.

Meral Gunay-Aygun, Melissa A. Parisi, Dan Doherty, Maya Tuchman, Ekaterini Tsilou, David E. Kleiner, Marjan Huizing, Baris Turkbey, Peter Choyke, Lisa Guay-Woodford, Theo Heller, Katarzyna Szymanska, Colin A. Johnson, Ian Glass, William A. Gahl

J Pediatr. Author manuscript; available in PMC 2010 Aug 23.

Published in final edited form as: J Pediatr. 2009 Sep; 155(3): 386–92.e1. Published online 2009 Jun 21. doi: 10.1016/j.jpeds.2009.03.045

PMCID:: PMC2925444

Abstract Article PDF–2.2M

Select item 28657475.

Normal Ciliogenesis Requires Synergy between the Cystic Kidney Disease Genes MKS-3 and NPHP-4

Corey L. Williams, Svetlana V. Masyukova, Bradley K. Yoder

J Am Soc Nephrol. 2010 May; 21(5): 782–793. doi: 10.1681/ASN.2009060597

PMCID:: PMC2865747

Abstract Article

Select item 27851816.

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

Abstract Article PDF–1.3M

Select item 27338217.

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 26354288.

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 17853139.

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

Select item 912265010.

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans

Karen I Lange, Sunayna Best, Sofia Tsiropoulou, Ian Berry, Colin A Johnson, Oliver E Blacque

Hum Mol Genet. 2022 May 15; 31(10): 1574–1587. Published online 2021 Nov 20. doi: 10.1093/hmg/ddab344

PMCID:: PMC9122650

Abstract Article PDF–1.8M

Select item 635584011.

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

Abstract Article PDF–7.4M

Select item 557902012.

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome

So-Hyun Lee, Tai-Seung Nam, Wenting Li, Jung Ha Kim, Woong Yoon, Yoo-Duk Choi, Kun-Hee Kim, Hua Cai, Min Jung Kim, Changsoo Kim, Hyon E. Choy, Nacksung Kim, Kee Oh Chay, Myeong-Kyu Kim, Seok-Yong Choi

Sci Rep. 2017; 7: 10222. Published online 2017 Aug 31. doi: 10.1038/s41598-017-10652-z

PMCID:: PMC5579020

Abstract Article PDF–2.7M

Select item 500763913.

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy

Hee Gyung Kang, Hyun Kyung Lee, Yo Han Ahn, Je-Gun Joung, Jaeyong Nam, Nayoung K D Kim, Jung Min Ko, Min Hyun Cho, Jae Il Shin, Joon Kim, Hye Won Park, Young Seo Park, Il-Soo Ha, Woo Yeong Chung, Dae-Yeol Lee, Su Young Kim, Woong Yang Park, Hae Il Cheong

Exp Mol Med. 2016 Aug; 48(8): e251. Published online 2016 Aug 5. doi: 10.1038/emm.2016.63

PMCID:: PMC5007639

Abstract Article PDF–610K

Select item 445703314.

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

Abstract Article

Select item 359633515.

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

Abstract Article PDF–5.2M

Select item 340323116.

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

Abstract Article

Select item 328411717.

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 309439918.

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

Abstract Article PDF–2.3M

Select item 280407119.

Joubert syndrome: insights into brain development, cilium biology and complex disease

Dan Doherty

Semin Pediatr Neurol. Author manuscript; available in PMC 2010 Sep 1.

Published in final edited form as: Semin Pediatr Neurol. 2009 Sep; 16(3): 143–154. doi: 10.1016/j.spen.2009.06.002

PMCID:: PMC2804071

Article PDF–2.3M

Select item 279775820.

Clinical and molecular features of Joubert syndrome and related disorders

Melissa A. Parisi

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2009 Dec 24.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2009 Nov 15; 151C(4): 326–340. doi: 10.1002/ajmg.c.30229

PMCID:: PMC2797758

Abstract Article PDF–1.3M

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