Identifying amyloid-related diseases by mapping mutations in low-complexity protein domains to pathologies Kevin A. Murray, Michael P. Hughes, Carolyn J. Hu, Michael R. Sawaya, Lukasz Salwinski, Hope Pan, Samuel W. French, Paul M. Seidler & David S. Eisenberg Nature Structural...
However, lack of disease annotationsof human proteins limit this purpose.Objective: Our objective is to present a framework for extracting associations between diseases andproteins first, and then constructed human disease network (HDN) based on disease-related proteins.Method: The protein-disease ...
Diseases in a specific disease class tend to cluster together, and genes associated with the same disease are functionally related. Comparing the eHDN with the original HDN (oHDN, constructed using disease gene information) revealed high consistency over all topological and functional properties. This...
Proteins associated with various human diseases are enriched in intrinsic disorder. These disease-associated IDPs and IDRs are real, abundant, diversified, vital, and dynamic. These proteins and regions comprise the disease-related unfoldome, which covers a significant part of the human proteome. Pro...
To better understand different molecular mechanisms by which mutations lead to various human diseases, we classified 82,833 disease-associated mutations according to their inheritance modes (recessive versus dominant) and molecular types (in-frame [missense point mutations and in-frame indels] versus ...
Related to this Question What's an example of a disease caused by a mutation in a single gene. Do the resulting symptoms (new trait) make sense considering the role of the affected protein? Why or why not? Using the ActiveModel for human ...
A subcomplex of the proteasome regulatory particle required for ubiquitin-conjugate degradation and related to the COP9 singnalosome and eIF3. Cell 94: 615–623. Article CAS Google Scholar Gonzalez-Liencres C, Tas C, Brown EC, Erdin S, Onur E, Cubukcoglu Z et al (2014). Oxidative ...
Numerous discovery technologies have been used to identify human proteins (or carbohydrates) that are candidate cancer vaccine antigens, including unique tumor-specific and tissue-specific antigens and shared disease-related antigens expressed in a range of tumors but not in normal adult tissues.99...
Guo, J. L. & Lee, V. M. Cell-to-cell transmission of pathogenic proteins in neurodegenerative diseases.Nat. Med.20, 130–138 (2014). CASPubMedPubMed CentralGoogle Scholar Scholl, M. et al. PET imaging of tau deposition in the aging human brain.Neuron89, 971–982 (2016). ...
Differences in gene expression by sex have been observed in human brain across the major developmental stages (prenatal, early childhood, puberty and adulthood)9and in splicing10. Reasons for sex-biased gene expression for some autosomal genes may be related to the presence of androgen or estrogen...