Results 41 to 50 of about 142,215 (332)
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023 Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld +9 more
wiley +1 more source
Advance in Reversible Covalent Kinase Inhibitors [PDF]
arXiv, 2021 Reversible covalent kinase inhibitors (RCKIs) are a class of novel kinase inhibitors attracting increasing attention because they simultaneously show the selectivity of covalent kinase inhibitors, yet avoid permanent protein-modification-induced adverse effects.
arxiv
Positional information readout in $Ca^{2+}$ signaling [PDF]
Phys. Rev. Lett. 123, 058102 (2019), 2017 Living cells respond to spatial signals. Signal transmission to the cell interior often involves the release of second messengers like $Ca^{2+}$ . They will eventually trigger a physiological response by activating kinases that in turn activate target proteins through phosphorylation. Here, we investigate theoretically how positional information can be
arxiv +1 more source
The molecular genetics of RASopathies: An update on novel disease genes and new disorders
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022 Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia +2 more
wiley +1 more source
Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization
Nature Communications, 2021 Bone morphogenetic protein (BMP) receptors are single pass transmembrane serine/threonine kinases that form tetrameric complexes comprised of two type I and two type II BMP receptors.
Christopher Agnew +10 more
doaj +1 more source
Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy
Frontiers in Psychiatry, 2023 Serine/threonine protein kinases are involved in axon formation and neuronal polarization and have recently been implicated in autism spectrum disorder (ASD) and neurodevelopmental disorders (NDD).
Yu Hu +18 more
doaj +1 more source
Inferring the Sign of Kinase-Substrate Interactions by Combining Quantitative Phosphoproteomics with a Literature-Based Mammalian Kinome Network [PDF]
, 2010 Protein phosphorylation is a reversible post-translational modification commonly used by cell signaling networks to transmit information about the extracellular environment into intracellular organelles for the regulation of the activity and sorting of proteins within the cell.
arxiv +1 more source
Using the structural kinome to systematize kinase drug discovery [PDF]
arXiv, 2021 Kinase-targeted drug design is challenging. It requires designing inhibitors that can bind to specific kinases when all kinase catalytic domains share a common folding scaffold that binds ATP. Thus, obtaining the desired selectivity, given the whole human kinome, is a fundamental task during early-stage drug discovery.
arxiv
Life, 2021 Protein phosphorylation is one of the most widely observed and important post-translational modification (PTM) processes. Protein phosphorylation is regulated by protein kinases, each of which covalently attaches a phosphate group to an amino acid side ...
Seung-Hyeon Seok
doaj +1 more source
A knowledge graph representation learning approach to predict novel kinase-substrate interactions [PDF]
arXiv, 2022 The human proteome contains a vast network of interacting kinases and substrates. Even though some kinases have proven to be immensely useful as therapeutic targets, a majority are still understudied. In this work, we present a novel knowledge graph representation learning approach to predict novel interaction partners for understudied kinases.
arxiv