PMC Links for Protein (Select 1061899958) - PMC

Select item 51815961.

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms

Ozanna Burnicka-Turek, Jeffrey D. Steimle, Wenhui Huang, Lindsay Felker, Anna Kamp, Junghun Kweon, Michael Peterson, Roger H. Reeves, Cheryl L. Maslen, Peter J. Gruber, Xinan H. Yang, Jay Shendure, Ivan P. Moskowitz

Hum Mol Genet. 2016 Jul 15; 25(14): 3011–3028. Published online 2016 Jun 23. doi: 10.1093/hmg/ddw155

PMCID:: PMC5181596

Abstract Article PDF–1.1M

Select item 43954942.

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

Elle C. Roberson, William E. Dowdle, Aysegul Ozanturk, Francesc R. Garcia-Gonzalo, Chunmei Li, Jan Halbritter, Nadia Elkhartoufi, Jonathan D. Porath, Heidi Cope, Allison Ashley-Koch, Simon Gregory, Sophie Thomas, John A. Sayer, Sophie Saunier, Edgar A. Otto, Nicholas Katsanis, Erica E. Davis, Tania Attié-Bitach, Friedhelm Hildebrandt, Michel R. Leroux, Jeremy F. Reiter

J Cell Biol. 2015 Apr 13; 209(1): 129–142. doi: 10.1083/jcb.201411087

PMCID:: PMC4395494

Abstract Article PDF–2.8M

Select item 41131923.

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja, Enza Maria Valente

Orphanet J Rare Dis. 2014; 9: 72. Published online 2014 May 5. doi: 10.1186/1750-1172-9-72

PMCID:: PMC4113192

Abstract Article PDF–732K

Select item 40922204.

Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks

Amy R Barker, Karen S Renzaglia, Kimberley Fry, Helen R Dawe

BMC Genomics. 2014; 15(1): 531. Published online 2014 Jun 26. doi: 10.1186/1471-2164-15-531

PMCID:: PMC4092220

Abstract Article PDF–921K

Select item 33830655.

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

Abstract Article PDF–2.0M

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 31358177.

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

William E. Dowdle, Jon F. Robinson, Andreas Kneist, M. Salomé Sirerol-Piquer, Suzanna G.M. Frints, Kevin C. Corbit, Norran A. Zaghloul, Gesina van Lijnschoten, Leon Mulders, Dideke E. Verver, Klaus Zerres, Randall R. Reed, Tania Attié-Bitach, Colin A. Johnson, José Manuel García-Verdugo, Nicholas Katsanis, Carsten Bergmann, Jeremy F. Reiter

Am J Hum Genet. 2011 Jul 15; 89(1): 94–110. doi: 10.1016/j.ajhg.2011.06.003

Correction in:: Am J Hum Genet. 2011 Oct 7; 89(4): 589.

PMCID:: PMC3135817

Abstract Article PDF–2.2M

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