Results 51 to 60 of about 2,406,008 (205)

Development of a biobank in the structure of scientific and diagnostic and treatment institutions and prospects for interregional integration

Кардиоваскулярная терапия и профилактика, 2022
The formation of biobanks in the structure of scientific and treatment and diagnostic institutions with prospects for interregional integration is a fundamental link in monitoring and predicting diseases of various origins, creating and testing highly ...
R. S. Kalinin, O. V. Goleva, R. A. Illarionov, V. V. Tsai, A. L. Mukomolova, Yu. E. Konstantinova, I. V. Markin, A. V. Krylov, N. V. Rogozina, M. K. Bekhtereva, M. S. Tyan, E. D. Orlova, M. Yu. Donnikov, L. V. Kovalenko, L. N. Kolbasin, A. S. Glotov, O. S. Glotov   +16 more
doaj   +1 more source

Soluble Epoxide Hydrolase Inhibition for Ocular Diseases: Vision for the Future [PDF]

, 2019
Ocular diseases cause visual impairment and blindness, imposing a devastating impact on quality of life and a substantial societal economic burden. Many such diseases lack universally effective pharmacotherapies.
Corson, Timothy W., Park, Bomina
core   +1 more source

Association of TNF-⍺ promoter polymorphisms with COVID-19 susceptibility and severity: a study from South India

Egyptian Journal of Medical Human Genetics
Background −1031 (T/C) and AA for − 308 (G/A) showing a higher risk for disease susceptibility (OR = 3.5 and 8.7, respectively) and severity (OR = 1.99 and 8.59, respectively). Elevated levels of all biochemical markers were significantly correlated with
M. L. N. Deepika, Aryan Gupta, C. Lalitha Pavani   +2 more
doaj   +1 more source

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and the latter characterized by ...
Pasinelli, Piera, Trotti, Davide, Wen, Xinmei, Westergard, Thomas   +3 more
core   +2 more sources

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue

EMBO Molecular Medicine
Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene, leading to impaired conversion of monolysocardiolipin (MLCL) into mature cardiolipin (CL).
Bauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, Pelle J Simpson, Yorrick R J Jaspers, Michel van Weeghel, Iman Man Hu, Cathelijne M E Lamboo, Denise Cloutier, Barry J Byrne, Jan Bert van Klinken, Paul M L Janssen, Sander R Piersma, Connie R Jimenez, Frédéric M Vaz, Gajja S Salomons, Jolanda van der Velden, Riekelt H Houtkooper, Signe Mosegaard   +18 more
doaj   +1 more source

A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report

Journal of Biochemical and Clinical Genetics
Background: The spleen tyrosine kinase (SYK) gene, located on chromosome 9q22.2, encodes a crucial cytoplasmic non-receptor tyrosine kinase involved in immune cell signaling, particularly in B and T cell receptor pathways. Mutations in SYK are linked to &
Aslı Guner Ozturk Demir, Akif Ayaz, Muhsin Elmas   +2 more
doaj   +1 more source

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]

, 2008
We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu, Jong Hun Kim, Kyu-Won Kim, Kyung-Soo Oh, Pamela Song   +4 more
core   +1 more source

High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells. [PDF]

, 2017
Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes.
Arias, Angelo, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Frazer, Kelly A, Goldstein, Lawrence SB, Herrera, Cheryl, Matsui, Hiroko, Nathanson, Jason L, Panopoulos, Athanasia D, Reyna, Sol M, Williams, Roy, Woodruff, Grace, Yeo, Gene W   +12 more
core   +2 more sources

Genetics of Prion Disease

Current Opinion in Genetics & Development, 2011
Prion diseases or transmissible spongiform encephalopathies (TSEs) are neurodegenerative disorders of humans and animals for which there are no effective treatments or cure. They include Creutzfeldt-Jakob disease (CJD) in humans and sheep scrapie, bovine spongiform encephalopathy (BSE) and chronic wasting disease (CWD) in cervids.
Lloyd, Sarah E, Mead, Simon, Collinge, John   +2 more
openaire   +3 more sources

Immuno-metabolic stress responses control longevity from mitochondrial translation inhibition in C. elegans

Nature Communications
Perturbing mitochondrial translation represents a conserved longevity intervention, with proteostasis processes proposed to mediate the resulting lifespan extension.
Iman Man Hu, Marte Molenaars, Yorrick R. J. Jaspers, Bauke V. Schomakers, Michel van Weeghel, Amber Bakker, Melanie Modder, Joseph P. Dewulf, Guido T. Bommer, Arwen W. Gao, Georges E. Janssens, Riekelt H. Houtkooper   +11 more
doaj   +1 more source