X Zhang, K Horibata, M Saijo, C Ishigami, A Ukai… - Nature …, 2012 - nature.com
UV-sensitive syndrome (UVSS) is an autosomal recessive disorder characterized by photosensitivity and deficiency in transcription-coupled repair (TCR), a subpathway of …
Z Wei, JM Peterson, X Lei, L Cebotaru… - Journal of Biological …, 2012 - ASBMB
Despite the prevalence of insulin resistance and type 2 diabetes mellitus, their underlying mechanisms remain incompletely understood. Many secreted endocrine factors and the …
Y Li, V Aksenova, M Tingey, J Yu… - Proceedings of the …, 2021 - National Acad Sciences
The in vivo characterization of the exact copy number and the specific function of each composite protein within the nuclear pore complex (NPC) remains both desirable and …
VM Miller, RF Nelson, CM Gouvion… - Journal of …, 2005 - Soc Neuroscience
Huntington's disease (HD) and other polyglutamine (polyQ) neurodegenerative diseases are characterized by neuronal accumulation of the disease protein, suggesting that the …
JC Celedon, C Lange, BA Raby… - Human molecular …, 2004 - academic.oup.com
Although cigarette smoking is the primary environmental risk factor, genetic risk factors likely influence the development of chronic obstructive pulmonary disease (COPD). Linkage …
X Zhang, Y Ozawa, H Lee, YD Wen… - Genes & …, 2005 - genesdev.cshlp.org
Histone deacetylase 3 (HDAC3) is one of four members of the human class I HDACs that regulates gene expression by deacetylation of histones and nonhistone proteins. Early …
SE Degn, AG Hansen, R Steffensen… - The Journal of …, 2009 - journals.aai.org
Essential effector functions of innate immunity are mediated by complement activation initiated by soluble pattern recognition molecules: mannan-binding lectin (MBL) and the …
Germline mutations involving small mothers against decapentaplegic–transforming growth factor–β (SMAD–TGF-β) signaling are an important but rare cause of pulmonary arterial …
T Imanishi, T Itoh, Y Suzuki, C O'donovan… - PLoS …, 2004 - journals.plos.org
The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our …