Results 91 to 100 of about 945,528 (300)

Are patterns of fine-scale spatial genetic structure consistent between sites within tropical tree species? [PDF]

open access: yes, 2018
JRS was funded by the Swiss National Science Foundation (SNF) (http://www.snf.ch/en/Pages/default.aspx) grant number PDFMP3_132479 / 1 awarded to JG.
Burslem, David F. R. P.   +9 more
core   +2 more sources

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

open access: yesFEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka   +11 more
wiley   +1 more source

The theory and art of corneal cross-linking

open access: yesIndian Journal of Ophthalmology, 2013
Before the discovery of corneal cross-linking (CXL), patients with keratoconus would have had to undergo corneal transplantation, or wear rigid gas permeable lenses (RGPs) that would temporarily flatten the cone, thereby improving the vision.
Rebecca McQuaid   +2 more
doaj   +1 more source

Does bounded rationality lead to individual heterogeneity? The impact of the experimentation process and of memory constraints [PDF]

open access: yes
In this paper we explore the effect of bounded rationality on the convergence of individual behavior toward equilibrium. In the context of a Cournot game with a unique and symmetric Nash equilibrium, firms are modeled as adaptive economic agents through ...
Marco Casari
core  

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

open access: yesFEBS 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   +2 more
wiley   +1 more source

Rare BLK, CEL, KLF11, PDX1, and PAX4 Gene Variants in Russian Patients with Monogenic Diabetes: Clinical and Molecular Characterization

open access: yesBiomedicines
Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic diabetes forms that are frequently misclassified as type 1 or type 2 diabetes due to overlapping phenotypic features.
Rita I. Khusainova   +8 more
doaj   +1 more source

Correlating familial Alzheimer’s disease gene mutations with clinical phenotype [PDF]

open access: yes, 2010
Alzheimer’s disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it.
Rossor, M.N., Ryan, N.S.
core   +1 more source

Structural biology of ferritin nanocages

open access: yesFEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Evidence for Genetic Heterogeneity in Monilethrix

open access: yesJournal of Investigative Dermatology, 1996
Monilethrix is a rare inherited defect of the hair shaft resulting in hair fragility and dystrophic alopecia. In contrast to recent reports mapping monilethrix to the type II epithelial and trichocyte keratin gene cluster on 12q13, we strongly excluded these candidate genes in another family with autosomal dominant monilethrix.
Richard, Gabriela   +4 more
openaire   +2 more sources

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

open access: yesFEBS 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   +3 more
wiley   +1 more source

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