Results 121 to 130 of about 194,146 (309)

TBK1 gene duplication and normal-tension glaucoma [PDF]

, 2014
Importance: Normal-tension glaucoma (NTG) is a common cause of vision loss.Objective: To investigate the role of TANK binding kinase 1 (TBK1) gene duplications in NTG to gain insights into the causes of glaucoma that occurs at low intraocular pressure ...
Menon, Geeta, Kawase, Kazuhide, Ritch, Robert, Solivan-Timpe, Frances, Roos, Ben R., Darbro, Ben, Robin, Alan L., Khanna, Cheryl L., Yamamoto, Tetsuya, Fingert, John H., Lotery, Andrew J., Sarfarzi, Mansoor   +11 more
core   +1 more source

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

The (In)dependence of Alternative Splicing and Gene Duplication

PLoS Computational Biology, 2007
Alternative splicing (AS) and gene duplication (GD) both are processes that diversify the protein repertoire. Recent examples have shown that sequence changes introduced by AS may be comparable to those introduced by GD. In addition, the two processes are inversely correlated at the genomic scale: large gene families are depleted in splice variants and
David Talavera, Christine Vogel, Modesto Orozco, Sarah A. Teichmann, Xavier de la Cruz   +4 more
openaire   +6 more sources

Molecular dynamics simulations of positively selected codons in FcγRI reveal novel biochemical binding properties

FEBS Open Bio, EarlyView.
Evolutionary analysis across 32 placental mammals identified positive selection at residues H148 and W149 in the immune receptor FcγR1. Ancestral reconstruction combined with molecular dynamics simulations reveals how these mutations may influence receptor structure and dynamics, providing insight into the evolution of antibody recognition and immune ...
David A. Young, Omar Arias‐Gaguancela, Fiona Gibson, Morgan Grainger, Jodie Score, Amit Nathubhai, Mauricio Cafiero, Lee Richard Machado   +7 more
wiley   +1 more source

A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies [PDF]

, 2005
GM(1)-gangliosidosis is a lysosomal storage disease that is inherited as an autosomal recessive disorder, predominantly caused by structural defects in the beta-galactosidase gene (GLB1). The molecular cause of GM(1)-gangliosidosis in Alaskan huskies was
Moritz, Andreas, Baumgärtner, Wolfgang, Müller, Gundi, Kreutzer, Robert, Leeb, Tosso   +4 more
core   +1 more source

Gone with the Species: From Gene Loss to Gene Extinction

Frontiers in Bioscience-Scholar
Background: Vertebrae protein-coding genes exhibit remarkable diversity and are organized into many gene families. These gene families have emerged through various gene duplication events, the most prominent being the two rounds of ...
Ammad Aslam Khan, Anees Fatima
doaj   +1 more source

Acute caffeine treatment protects the developing retina from ischemia‐induced cell death

FEBS Open Bio, EarlyView.
Caffeine reduces cell death in the developing retina under ischemia (OGD). This effect does not involve BDNF upregulation or antioxidant pathways (NRF2/VEGF). Neuroprotection occurs mainly through adenosine A2A receptor antagonism, decreasing glutamate release and excitotoxicity, highlighting caffeine's potential as an acute neuroprotective agent in ...
Amanda Alves Nascimento, Danniel Pereira‐Figueiredo, Gabriella Grossi de Lima Dias, Gabriel Ferreira dos Santos, Mariana Rodrigues Pereira, Rafael Brito, Karin C Calaza   +6 more
wiley   +1 more source

100 million years of multigene family evolution: origin and evolution of the avian MHC class IIB

BMC Genomics, 2017
Background Gene duplication has led to a most remarkable adaptation involved in vertebrates’ host-pathogen arms-race, the major histocompatibility complex (MHC).
Julien Goebel, Marta Promerová, Francesco Bonadonna, Karen D. McCoy, Céline Serbielle, Maria Strandh, Glenn Yannic, Reto Burri, Luca Fumagalli   +8 more
doaj   +1 more source

Pharmacological inhibition of the PERK pathway modulates hepatocellular carcinoma growth and immune signaling

FEBS Open Bio, EarlyView.
Pharmacological inhibition of PERK in a DEN‐induced mouse model of liver cancer does not reduce tumor burden but alters cellular stress signaling. Despite blocking PERK activity, downstream stress responses, including CHOP expression, remain active, suggesting compensatory mechanisms within the unfolded protein response that may influence tumor ...
Ada Lerma‐Clavero, Maria Kopsida, Nathalie Arendt, Hans Lennernäs, Markus Sjöblom, Femke Heindryckx   +5 more
wiley   +1 more source

Universal Features in the Genome-level Evolution of Protein Domains [PDF]

, 2008
Protein domains are found on genomes with notable statistical distributions, which bear a high degree of similarity. Previous work has shown how these distributions can be accounted for by simple models, where the main ingredients are probabilities of ...
Bruno Bassetti, Alessandro L. Sellerio, Philip D. Heijning, Marco Cosentino Lagomarsino, M. Cosentino Lagomarsino, B.F. Bassetti, P. D. Heijning, A. L. Sellerio   +7 more
core   +2 more sources