Results 111 to 120 of about 325,097 (348)

Gene duplication and inactivation in the HPRT gene family

open access: yesGenomics, 2007
Hypoxanthine phosphoribosyltransferase (HPRT1) is a key enzyme in the purine salvage pathway, and mutations in HPRT1 cause Lesch-Nyhan disease. The studies described here utilized targeted comparative mapping and sequencing, in conjunction with database searches, to assemble a collection of 53 HPRT1 homologs from 28 vertebrates.
James W. Thomas   +3 more
openaire   +2 more sources

Electrical pulse stimulation reflecting the episodic nature of real‐life exercise modulates metabolic and secretory profile of primary human myotubes

open access: yesFEBS Open Bio, EarlyView.
Here, we introduced an intermittent electrical stimulation protocol mimicking the episodic nature of real‐life exercise in vitro by alternating low‐ and high‐frequency stimulation. In comparison with widely used continuous stimulation, it enhanced the rate of glucose and fatty acid oxidation, but not the myokine release.
Klára Gabrišová   +11 more
wiley   +1 more source

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

open access: yesFEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel   +8 more
wiley   +1 more source

Overexpression of CDT1 inhibits cell cycle progression at S phase by interacting with the mini‐chromosome maintenance complex and causes DNA damage

open access: yesFEBS Open Bio, EarlyView.
CDT1 is an essential protein for DNA replication licensing that loads the MCM complex, the eukaryotic replicative DNA helicase, onto replication origins. Overexpression of CDT1 induces cell cycle arrest at the S phase. Here we showed CDT1 inhibits the progression of replication forks by interacting with the MCM complex, leading to the stalling and ...
Takashi Tsuyama   +7 more
wiley   +1 more source

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

open access: yesBMC 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   +8 more
doaj   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

open access: yesFEBS Open Bio, EarlyView.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source

Evolutionary dynamics of the chloroplast genome in Daphne (Thymelaeaceae): comparative analysis with related genera and insights into phylogenetics

open access: yesFEBS Open Bio, EarlyView.
Comparative analysis of chloroplast genomes from 14 genera of Thymelaeaceae revealed variation in gene content, ranging from 128 to 142 genes, primarily influenced by IR expansion/contraction events and pseudogenization of ndhF, ndhI, and ndhG. Two large inversions were detected within the large single‐copy region, including a synapomorphic inversion ...
Abdullah   +8 more
wiley   +1 more source

Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication

open access: yesFrontiers in Immunology
Mutations in the complement factor H (CFH) gene are associated with complement dysregulation and the development of atypical hemolytic uremic syndrome (aHUS).
Yuko Tasaki   +10 more
doaj   +1 more source

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