PMC Links for Protein (Select 134047813) - PMC

Select item 58950511.

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms

Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, Won-Il Choi, Hye-Youn Kim, Seyoung Yu, Joon Suk Lee, John Hoon Rim, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee

PLoS Genet. 2018 Mar; 14(3): e1007316. Published online 2018 Mar 30. doi: 10.1371/journal.pgen.1007316

PMCID:: PMC5895051

Abstract Article PDF–20M

Select item 37388272.

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, Dalal A. Al-Mutairi, Margaret W. Leigh, Toby W. Hurd, Rim Hjeij, Sharon D. Dell, Moumita Chaki, Gerard W. Dougherty, Mohamed Adan, Philip C. Spear, Julian Esteve-Rudd, Niki T. Loges, Margaret Rosenfeld, Katrina A. Diaz, Heike Olbrich, Whitney E. Wolf, Eamonn Sheridan, Trevor F.C. Batten, Jan Halbritter, Jonathan D. Porath, Stefan Kohl, Svjetlana Lovric, Daw-Yang Hwang, Jessica E. Pittman, Kimberlie A. Burns, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Lucy C. Morgan, Claudius Werner, Johanna Raidt, Petra Pennekamp, Zhaoxia Sun, Weibin Zhou, Rannar Airik, Sivakumar Natarajan, Susan J. Allen, Israel Amirav, Dagmar Wieczorek, Kerstin Landwehr, Kim Nielsen, Nicolaus Schwerk, Jadranka Sertic, Gabriele Köhler, Joseph Washburn, Shawn Levy, Shuling Fan, Cordula Koerner-Rettberg, Serge Amselem, David S. Williams, Brian J. Mitchell, Iain A. Drummond, Edgar A. Otto, Heymut Omran, Michael R. Knowles, Friedhelm Hildebrandt

Am J Hum Genet. 2013 Aug 8; 93(2): 336–345. doi: 10.1016/j.ajhg.2013.06.007

PMCID:: PMC3738827

Abstract Article PDF–1.9M

Select item 34871483.

Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Esther Kott, Philippe Duquesnoy, Bruno Copin, Marie Legendre, Florence Dastot-Le Moal, Guy Montantin, Ludovic Jeanson, Aline Tamalet, Jean-François Papon, Jean-Pierre Siffroi, Nathalie Rives, Valérie Mitchell, Jacques de Blic, André Coste, Annick Clement, Denise Escalier, Aminata Touré, Estelle Escudier, Serge Amselem

Am J Hum Genet. 2012 Nov 2; 91(5): 958–964. doi: 10.1016/j.ajhg.2012.10.003