Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maja K. Choma"'
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0140404 (2015)
The HIV-1-encoded protein, Nef, plays a key role in the development of AIDS. One of Nef's functions is to keep MHC class I off the surface of infected cells, a process that requires the host proteins clathrin and AP-1. To identify other proteins invo
Externí odkaz:
https://doaj.org/article/6ebf917988bb40e6acd46580d2b0f75b
Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
Autor:
P. Andrew Futreal, Jozef Gecz, Anna Hackett, Andrea Licata, Charles E. Schwartz, Roger E. Stevenson, Annabel Whibley, Tod Fullston, Gillian Turner, Maja K. Choma, Georgina Parkin, Raffaella Smith, Vincent Plagnol, Catherine A. Boucher, Patrick S. Tarpey, Michael Field, Fatima Abidi, Marie Shaw, Cindy Skinner, Jackie Boyle, F. Lucy Raymond, Lorraine Shepherd, Lionel Willatt, Michael R. Stratton
Publikováno v:
The American Journal of Human Genetics. 87(2):173-188
Copy number variants and indels in 251 families with evidence of X-linked intellectual disability (XLID) were investigated by array comparative genomic hybridization on a high-density oligonucleotide X chromosome array platform. We identified pathoge
Autor:
Rita Sinka, Daniela A. Sahlender, Michael D.J. Parkinson, Maja K. Choma, Jennifer Hirst, Margaret S. Robinson, Michael E. Harbour
Publikováno v:
Traffic. 10:1696-1710
The GGAs [Golgi-localised, gamma-ear containing, ARF (ADP ribosylation factor)-binding proteins] and the AP-1 (adaptor protein-1) complex are both adaptors for clathrin-mediated intracellular trafficking, but their relationship to each other is uncle
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 10, p e0140404 (2015)
PLoS ONE, Vol 10, Iss 10, p e0140404 (2015)
The HIV-1-encoded protein, Nef, plays a key role in the development of AIDS. One of Nef’s functions is to keep MHC class I off the surface of infected cells, a process that requires the host proteins clathrin and AP-1. To identify other proteins in
Autor:
Richard Holt, Inês Sousa, Maja K. Choma, Agatino Battaglia, Nuala Sykes, Elena Maestrini, Janine A. Lamb, Anthony P. Monaco, Kazuhiro Kobayashi, Claudio Toma, Taane G. Clark, Anthony J. Bailey
Publikováno v:
European journal of human genetics : EJHG. 17(6)
Austism is a common, severe and highly heritable neurodevelopmental disorder. The International Molecular Genetic Study of Autism Consortium (IMGSAC) genome screen for linkage in affected sib-pair families identified a chromosome 7 q susceptibility l