PMC Links for Nucleotide (Select 1519312264) - PMC

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Items: 10

Select item 63695671.

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

Guillaume Dorval, Valeryia Kuzmuk, Olivier Gribouval, Gavin I. Welsh, Agnieszka Bierzynska, Alain Schmitt, Stéphanie Miserey-Lenkei, Ania Koziell, Shuman Haq, Alexandre Benmerah, Géraldine Mollet, Olivia Boyer, Moin A. Saleem, Corinne Antignac

Am J Hum Genet. 2019 Feb 7; 104(2): 348–355. Published online 2019 Jan 17. doi: 10.1016/j.ajhg.2018.12.016

PMCID:: PMC6369567

Abstract Article PDF–2.0M

Select item 56736052.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Ideke J.C. Lamers, Margot R.F. Reijnders, Hanka Venselaar, Alison Kraus, DDD Study, Sandra Jansen, Bert B.A. de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J.F. Letteboer, Sylvia E.C. van Beersum, Simone Dusseljee, Han G. Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman

Am J Hum Genet. 2017 Nov 2; 101(5): 824–832. Published online 2017 Oct 26. doi: 10.1016/j.ajhg.2017.09.015

PMCID:: PMC5673605

Abstract Article PDF–2.0M

Select item 55316113.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 47322064.

Recycling and Endosomal Sorting of Protease-activated Receptor-1 Is Distinctly Regulated by Rab11A and Rab11B Proteins

Neil J. Grimsey, Luisa J. Coronel, Isabel Canto Cordova, JoAnn Trejo

J Biol Chem. 2016 Jan 29; 291(5): 2223–2236. Published online 2015 Dec 3. doi: 10.1074/jbc.M115.702993

PMCID:: PMC4732206

Abstract Article PDF–2.7M

Select item 373465.

Myosin Vb Is Associated with Plasma Membrane Recycling Systems

Lynne A. Lapierre, Ravindra Kumar, Chadwick M. Hales, Jennifer Navarre, Sheela G. Bhartur, Jason O. Burnette, D. William Provance, Jr., John A. Mercer, Martin Bähler, James R. Goldenring

Mol Biol Cell. 2001 Jun; 12(6): 1843–1857. doi: 10.1091/mbc.12.6.1843