Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.
Sign Up to like & getrecommendations! Published in 2018 at "Cell systems"
DOI: 10.1016/j.cels.2018.01.008
Abstract: Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare… read more here.
Keywords: mechanisms identified; identified genealogical; disease mechanisms; rare disease ... See more keywords
Methods and approaches to disease mechanisms using systems kinomics
Sign Up to like & getrecommendations! Published in 2018 at "Synthetic and Systems Biotechnology"
DOI: 10.1016/j.synbio.2017.12.004
Abstract: All cellular functions, ranging from regular cell maintenance and homeostasis, specialized functions specific to cellular types, or generating responses due to external stimulus, are mediated by proteins within the cell. Regulation of these proteins allows… read more here.
Keywords: protein; kinases phosphatases; disease mechanisms; approaches disease ... See more keywords
Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Gene therapy"
DOI: 10.1038/s41434-021-00240-2
Abstract: Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss (HL), which accounts for approximately 2-5% of all patients with congenital hearing loss. WS is classified into four… read more here.
Keywords: disease mechanisms; insights disease; waardenburg syndrome; mechanisms biological ... See more keywords
Human herpesvirus 8-related diseases: Histopathologic diagnosis and disease mechanisms.
Sign Up to like & getrecommendations! Published in 2017 at "Seminars in diagnostic pathology"
DOI: 10.1053/j.semdp.2017.04.004
Abstract: The emergence of HIV/AIDS more than three decades ago led to an increased incidence of diseases caused by HHV8 co-infection, particularly Kaposi sarcoma, primary effusion lymphoma, and multicentric Castleman disease. Over time, the development of… read more here.
Keywords: disease mechanisms; related diseases; human herpesvirus; disease ... See more keywords
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurochemistry"
DOI: 10.1111/jnc.15120
Abstract: Mutations in Munc18‐1/STXBP1 (syntaxin‐binding protein 1) are linked to various severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous mutations in the STXBP1 gene include missense, nonsense, frameshift, and splice site mutations, as well as intragenic… read more here.
Keywords: stxbp1 encephalopathies; disease mechanisms; disease; encephalopathies clinical ... See more keywords
Disease mechanisms in Sjögren’s syndrome: What do we know?
Sign Up to like & getrecommendations! Published in 2022 at "Scandinavian Journal of Immunology"
DOI: 10.1111/sji.13145
Abstract: Why should we explore and study disease mechanisms? This is particularly important when we are dealing with complex pathogenesis without a direct causal agent, for example, syndromes with multiple organ involvements. Sjögren's syndrome is definitely… read more here.
Keywords: syndrome know; gren syndrome; mechanisms gren; disease mechanisms ... See more keywords
Disease mechanisms in preclinical rheumatoid arthritis: A narrative review
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.689711
Abstract: In the last decades, the concept of preclinical rheumatoid arthritis (RA) has become established. In fact, the discovery that disease mechanisms start years before the onset of clinical RA has been one of the major… read more here.
Keywords: disease; preclinical rheumatoid; rheumatoid arthritis; disease mechanisms ... See more keywords
Calcium imaging: A versatile tool to examine Huntington’s disease mechanisms and progression
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.1040113
Abstract: Huntington’s disease (HD) is a fatal, hereditary neurodegenerative disorder that causes chorea, cognitive deficits, and psychiatric symptoms. It is characterized by accumulation of mutant Htt protein, which primarily impacts striatal medium-sized spiny neurons (MSNs), as… read more here.
Keywords: huntington disease; disease; ca2 imaging; disease mechanisms ... See more keywords
The Blood–Brain Barrier—A Key Player in Multiple Sclerosis Disease Mechanisms
Sign Up to like & getrecommendations! Published in 2022 at "Biomolecules"
DOI: 10.3390/biom12040538
Abstract: Over the past decade, multiple sclerosis (MS), a chronic neuroinflammatory disease with severe personal and social consequences, has undergone a steady increase in incidence and prevalence rates worldwide. Despite ongoing research and the development of… read more here.
Keywords: disease mechanisms; disease; blood brain; brain barrier ... See more keywords
Psoriasis Comorbidities and Shared Disease Mechanisms – An Investigation using Systems Biology approaches
Sign Up to like & getrecommendations! Published in 2023 at "Research Journal of Pharmacy and Technology"
DOI: 10.52711/0974-360x.2023.00147
Abstract: Comorbidity, or co-existing diseases and disorders, often contribute to the patient's overall burden. Psoriasis is a unique example of this. Investigating comorbidities in psoriasis patients is a time-consuming, laborious, and expensive process. To avoid these… read more here.
Keywords: disease mechanisms; psoriasis comorbidities; shared disease; psoriasis ... See more keywords