Results 71 to 80 of about 4,885,439 (330)
Human Genetics, 2013 The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease.
P. Stenson +5 more
semanticscholar +1 more source
, 1997 Publisher Summary Molecular genetics is based on detecting locus-specific differences between individuals. The loci studied may be the single genes of known identity, which necessarily occupy specific chromosome locations, or unique but anonymous chromosomal position markers identified only by their deoxyribonucleic acid (DNA) sequences.
openaire +2 more sources
A Cre‐dependent lentiviral vector for neuron subtype‐specific expression of large proteins
FEBS Letters, EarlyView.We designed a versatile and modular lentivector comprising a Cre‐dependent switch and self‐cleaving 2A peptide and tested it for co‐expression of GFP and a 2.8 kb gene of interest (GOI) in mouse cortical parvalbumin (PV+) interneurons and midbrain dopamine (TH+) neurons.
Weixuan Xue +6 more
wiley +1 more source
iScienceSummary: Advances involving artificial intelligence (AI) and experimental structure determination can provide detailed pictures of complex protein structures and their variations.
Vilde Leipart +4 more
doaj +1 more source
Molecular genetics and targeted therapy of WNT-related human diseases (Review)
International Journal of Molecular Medicine, 2017 Canonical WNT signaling through Frizzled and LRP5/6 receptors is transduced to the WNT/β-catenin and WNT/stabilization of proteins (STOP) signaling cascades to regulate cell fate and proliferation, whereas non-canonical WNT signaling through Frizzled or ...
Masuko Katoh, M. Katoh
semanticscholar +1 more source
By dawn or dusk—how circadian timing rewrites bacterial infection outcomes
FEBS Letters, EarlyView.The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo +2 more
wiley +1 more source
Simple and highly specific targeting of resident microglia with adeno-associated virus
iScienceSummary: Microglia, as the immune cells of the central nervous system (CNS), play dynamic roles in both healthy and diseased conditions. The ability to genetically target microglia using viruses is crucial for understanding their functions and advancing ...
Carolina Serrano +4 more
doaj +1 more source
Hematopoietic (stem) cells—The elixir of life?
FEBS Letters, EarlyView.The aging of HSCs (hematopoietic stem cells) and the blood system leads to the decline of other organs. Rejuvenating aged HSCs improves the function of the blood system, slowing the aging of the heart, kidney, brain, and liver, and the occurrence of age‐related diseases.
Emilie L. Cerezo +4 more
wiley +1 more source
Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?
FEBS Letters, EarlyView.This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes +3 more
wiley +1 more source
Toward an elucidation of the molecular genetics of inherited retinal degenerations
Human Molecular Genetics, 2017 While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes
G. Farrar +9 more
semanticscholar +1 more source