PMC Links for Gene (Select 8905) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 45

<< First< Prev

Page of 3

Select item 64227091.

A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review

Liang Huo, Ziteng Teng, Hua Wang, Xueyan Liu

Brain Behav. 2019 Mar; 9(3): e01221. Published online 2019 Feb 4. doi: 10.1002/brb3.1221

PMCID:: PMC6422709

Abstract Article PDF–432K

Select item 46134822.

Next-generation sequencing in X-linked intellectual disability

Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl-Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Riess, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Riess, Peter Bauer

Eur J Hum Genet. 2015 Oct; 23(11): 1513–1518. Published online 2015 Feb 4. doi: 10.1038/ejhg.2015.5

PMCID:: PMC4613482

Abstract Article PDF–274K

Select item 39252633.

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, Marc Delepine, Diana Zelenika, Mark Lathrop, Nicolas Lévy, David H Ledbetter, William B Dobyns, Laurent Villard

Eur J Hum Genet. 2014 Mar; 22(3): 363–368. Published online 2013 Jun 12. doi: 10.1038/ejhg.2013.135

PMCID:: PMC3925263

Abstract Article PDF–1.2M

Select item 27521854.

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X‐linked mental retardation with hydrocephalus and calcifications in basal ganglia

Y Saillour, G Zanni, V Des Portes, D Heron, L Guibaud, M T Iba‐Zizen, J L Pedespan, K Poirier, L Castelnau, C Julien, C Franconnet, D Bonthron, M E Porteous, J Chelly, T Bienvenu

J Med Genet. 2007 Nov; 44(11): 739–744. Published online 2007 Jul 14. doi: 10.1136/jmg.2007.051334

PMCID:: PMC2752185

Abstract Article PDF–518K

Select item 16987185.

Mutations in the Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex, AP1S2, Cause X-Linked Mental Retardation

Patrick S. Tarpey, Claire Stevens, Jon Teague, Sarah Edkins, Sarah O’Meara, Tim Avis, Syd Barthorpe, Gemma Buck, Adam Butler, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Calli Tofts, Jennifer Varian, Sofie West, Sara Widaa, Andy Yates, Rachael Catford, Julia Butler, Uma Mallya, Jenny Moon, Ying Luo, Huw Dorkins, Deborah Thompson, Douglas F. Easton, Richard Wooster, Martin Bobrow, Nancy Carpenter, Richard J. Simensen, Charles E. Schwartz, Roger E. Stevenson, Gillian Turner, Michael Partington, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal, F. Lucy Raymond

Am J Hum Genet. 2006 Dec; 79(6): 1119–1124. Published online 2006 Nov 1. doi: 10.1086/510137

PMCID:: PMC1698718

Abstract Article PDF–1.7M

Select item 68481516.

Long noncoding RNA LINC00518 acts as a competing endogenous RNA to promote the metastasis of malignant melanoma via miR-204-5p/AP1S2 axis

Wenkang Luan, Yuting Ding, Shaojun Ma, Hongru Ruan, Jinlong Wang, Feng Lu

Cell Death Dis. 2019 Nov; 10(11): 855. Published online 2019 Nov 11. doi: 10.1038/s41419-019-2090-3

PMCID:: PMC6848151

Abstract Article PDF–3.0M

Select item 216247.

Interaction of HIV-1 Nef with the cellular dileucine-based sorting pathway is required for CD4 down-regulation and optimal viral infectivity

Heather M. Craig, Mark W. Pandori, John C. Guatelli

Proc Natl Acad Sci U S A. 1998 Sep 15; 95(19): 11229–11234. doi: 10.1073/pnas.95.19.11229

PMCID:: PMC21624

Abstract Article PDF–196K

Select item 37001888.

Adaptor Protein 1 Promotes Cross-Presentation through the Same Tyrosine Signal in Major Histocompatibility Complex Class I as That Targeted by HIV-1

Deanna A. Kulpa, Natasha Del Cid, Kirsten A. Peterson, Kathleen L. Collins

J Virol. 2013 Jul; 87(14): 8085–8098. doi: 10.1128/JVI.00701-13

PMCID:: PMC3700188

Abstract Article PDF–2.5M

Select item 5465969.

Leucine-Specific, Functional Interactions between Human Immunodeficiency Virus Type 1 Nef and Adaptor Protein Complexes

Scott H. Coleman, Nanette Van Damme, John R. Day, Colleen M. Noviello, Douglas Hitchin, Ricardo Madrid, Serge Benichou, John C. Guatelli

J Virol. 2005 Feb; 79(4): 2066–2078. doi: 10.1128/JVI.79.4.2066-2078.2005

PMCID:: PMC546596

Abstract Article PDF–708K

Select item 11592410.

The Highly Conserved C-Terminal Dileucine Motif in the Cytosolic Domain of the Human Immunodeficiency Virus Type 1 Envelope Glycoprotein Is Critical for Its Association with the AP-1 Clathrin Adapter

Stéphanie Wyss, Clarisse Berlioz-Torrent, Michael Boge, Guillaume Blot, Stefan Höning, Richard Benarous, Markus Thali

J Virol. 2001 Mar; 75(6): 2982–2992. doi: 10.1128/JVI.75.6.2982-2992.2001

Correction in:: J Virol. 2001 May; 75(9): 4473.

PMCID:: PMC115924

Abstract Article PDF–2.2M

Select item 6027711.

Golgi-localized, γ-Ear-containing, ADP-Ribosylation Factor-binding Proteins: Roles of the Different Domains and Comparison with AP-1 and Clathrin

Jennifer Hirst, Margaret R. Lindsay, Margaret S. Robinson

Mol Biol Cell. 2001 Nov; 12(11): 3573–3588. doi: 10.1091/mbc.12.11.3573

PMCID:: PMC60277

Abstract Article PDF–2.1M

Select item 217246912.

HIV-1 Nef disrupts MHC-I trafficking by recruiting AP-1 to the MHC-I cytoplasmic tail

Jeremiah F. Roeth, Maya Williams, Matthew R. Kasper, Tracey M. Filzen, Kathleen L. Collins

J Cell Biol. 2004 Dec 6; 167(5): 903–913. doi: 10.1083/jcb.200407031

PMCID:: PMC2172469

Abstract Article PDF–1.5M

Select item 52109413.

Crystal structure of the clathrin adaptor protein 1 core

Ekaterina E. Heldwein, Eric Macia, Jing Wang, Helen L. Yin, Tomas Kirchhausen, Stephen C. Harrison

Proc Natl Acad Sci U S A. 2004 Sep 28; 101(39): 14108–14113. Published online 2004 Sep 17. doi: 10.1073/pnas.0406102101

PMCID:: PMC521094

Abstract Article PDF–746K

Select item 10395914.

Interactions of the Cytoplasmic Domains of Human and Simian Retroviral Transmembrane Proteins with Components of the Clathrin Adaptor Complexes Modulate Intracellular and Cell Surface Expression of Envelope Glycoproteins

Clarisse Berlioz-Torrent, Barbara L. Shacklett, Lars Erdtmann, Lelia Delamarre, Isabelle Bouchaert, Pierre Sonigo, Marie Christine Dokhelar, Richard Benarous

J Virol. 1999 Feb; 73(2): 1350–1361. doi: 10.1128/jvi.73.2.1350-1361.1999