Results 121 to 130 of about 370,636 (381)

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

open access: yesAmerican 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

Hydration Water Dynamics and Instigation of Protein Structural Relaxation [PDF]

open access: yesarXiv, 2003
The molecular mechanism of the solvent motion that is required to instigate the protein structural relaxation above a critical hydration level or transition temperature has yet to be determined. In this work we use quasi-elastic neutron scattering (QENS) and molecular dynamics simulation to investigate hydration water dynamics near a greatly simplified
arxiv  

The Arabidopsis Abscisic Acid Response Gene ABI5 Encodes a Basic Leucine Zipper Transcription Factor

open access: yesThe Plant Cell, 2000
The Arabidopsis abscisic acid (ABA)–insensitive abi5 mutants have pleiotropic defects in ABA response, including decreased sensitivity to ABA inhibition of germination and altered expression of some ABA-regulated genes. We isolated the ABI5 gene by using
R. Finkelstein, Tim J. Lynch
semanticscholar   +1 more source

Insights into the Dynamics and Binding Mechanisms of the Alkhumra Virus NS2B/NS3 Protease: A Molecular Dynamics Study

open access: yesAdvanced Theory and Simulations, EarlyView.
The ΔRMSF$\Delta {\rm RMSF}$ analysis reveals significant flexibility differences between free NS3 and the NS2B/NS3 complex, with notable deviations in specific regions. Key residues driving NS2B binding are identified, and the protonation state of catalytic serine affects oxyanion hole formation.
Jurica Novak   +2 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Three phases in the evolution of the standard genetic code: how translation could get started [PDF]

open access: yesarXiv, 2007
A primordial genetic code is proposed, having only four codons assigned, GGC meaning glycine, GAC meaning aspartate/glutamate, GCC meaning alanine-like and GUC meaning valine-like. Pathways of ambiguity reduction enlarged the codon repertoire with CUC meaning leucine, AUC meaning isoleucine, ACC meaning threonine-like and GAG meaning glutamate ...
arxiv  

A Heterospecific Leucine Zipper Tetramer

open access: yesChemistry & Biology, 2008
Protein-protein interactions play an essential role in the assembly of the macromolecular complexes that form functional networks and control cellular behavior. Elucidating principles of molecular recognition governing potentially complex interfaces is a challenging goal for structural and systems biology.
Qi Zheng   +5 more
openaire   +3 more sources

RONIN/HCF1‐TFEB Axis Protects Against D‐Galactose‐Induced Cochlear Hair Cell Senescence Through Autophagy Activation

open access: yesAdvanced Science, EarlyView.
D‐galactose (D‐gal) induced inner ear hair cell senescence by inhibiting TFEB transcription. RONIN/HCF1 promotes TFEB transcription to prevent cochlear HCs from D‐gal‐induced senescence through autophagy activation. Abstract Age‐related hearing loss is characterized by senescent inner ear hair cells (HCs) and reduced autophagy.
Yongjie Wei   +18 more
wiley   +1 more source

Regulatory effect of gut microbes on blood pressure

open access: yesAnimal Models and Experimental Medicine, Volume 5, Issue 6, Page 513-531, December 2022., 2022
The interaction between gut microbiota and hypertension, the genera which affect the blood pressure in taxonomic level, and the commonly used treatments to hypertension based on the gut microbes were summarized in this review. The increases of Lactobacillus, etc.
Dong Yan   +6 more
wiley   +1 more source

Protein Sequence, Structure, Stability and Functionality [PDF]

open access: yesarXiv, 2008
Protein-protein interactions (protein functionalities) are mediated by water, which compacts individual proteins and promotes close and temporarily stable large-area protein-protein interfaces. Proteins are peptide chains decorated by amino acids, and protein scientists have long described protein-water interactions in terms of qualitative amino acid ...
arxiv  

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