PMC Links for Protein (Select 348605214) - PMC

Select item 63558401.

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 55808002.

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

Abstract Article PDF–2.4M

Select item 46175403.

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

Abstract Article PDF–518K

Select item 45031114.

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

Abstract Article PDF–1.2M

Select item 35963355.

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 17853136.

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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