Results 61 to 70 of about 925,682 (298)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Intersex related gene expression profiles in clams Scrobicularia plana : molecular markers and environmental application [PDF]

, 2015
Intersex, the appearance of female characteristics in male gonads, has been identified in several aquatic species. It is a widespread phenomenon in populations of the bivalve, Scrobicularia plana, from the southwest coast of the U.K.
Alvarez-Munoz, Diana, Ciocan, Corina, Ciocan, Corina M., Cornelius, Keith, Cubero-Leon, Elena, Hill, E. M., Hill, Elizabeth, Indiveri, Paolo, Langston, William, Langston, William J., Lerebours, Adelaide, Minier, Christophe, Pope, Nick, Rotchell, Jeanette, Rotchell, Jeanette M.   +14 more
core   +1 more source

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

Identification of potential hub genes involved in alcohol use disorder via bioinformatics analysis

Sichuan jingshen weisheng, 2023
BackgroundAlcohol use disorder （AUD） is a type of chronic relapsing brain disorder. Genetic factors play an important role in the pathogenesis of AUD.
Zhao Rong, Zhu Youwei, Xie Bin
doaj   +1 more source

Searching for differentially expressed gene combinations [PDF]

Genome Biology, 2005
AbstractWe propose 'CorScor', a novel approach for identifying gene pairs with joint differential expression. This is defined as a situation with good phenotype discrimination in the bivariate, but not in the two marginal distributions. CorScor can be used to detect phenotype-related dependencies and interactions among genes.
Dettling, Marcel, Gabrielson, Edward, Parmigiani, Giovanni   +2 more
openaire   +2 more sources

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Identification of MicroRNA-Target Gene-Transcription Factor Regulatory Networks in Colorectal Adenoma Using Microarray Expression Data

Frontiers in Genetics, 2020
ObjectiveThe aim of the study was to find the key genes, microRNAs (miRNAs) and transcription factors (TFs) and construct miRNA-target gene-TF regulatory networks to investigate the underlying molecular mechanism in colorectal adenoma (CRA).MethodsFour ...
Yadong Gao, Yadong Gao, Shenglai Zhang, Shenglai Zhang, Yan Zhang, Yan Zhang, Junbo Qian, Junbo Qian   +7 more
doaj   +1 more source

Identification of Key Biomarkers and Pathways for Maintaining Cognitively Normal Brain Aging Based on Integrated Bioinformatics Analysis

Frontiers in Aging Neuroscience, 2022
BackgroundGiven the arrival of the aging population has caused a series of social and economic problems, we aimed to explore the key genes underlying cognitively normal brain aging and its potential molecular mechanisms.MethodsGSE11882 was downloaded ...
Jinling Xu, Jinling Xu, Hui Zhou, Guangda Xiang, Guangda Xiang   +4 more
doaj   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia. [PDF]

, 2016
Autism (AUT), schizophrenia (SCZ) and bipolar disorder (BPD) are three highly heritable neuropsychiatric conditions. Clinical similarities and genetic overlap between the three disorders have been reported; however, the causes and the downstream effects ...
Arking, DE, Ellis, SE, Panitch, R, West, AB   +3 more
core   +1 more source