Results 141 to 150 of about 4,730 (218)

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

The Molecular Heterogeneity of NRAS Variants in Thyroid Nodules

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective NRAS variants are the most common mutations in thyroid nodules with (B)ethesda III/IV cytology. This study aims to characterize co‐occurring variants, molecular signatures, and hallmarks of cancer pathways in nodules with NRAS variants. Study Design Retrospective database analysis.
Emma De Ravin, Mohammed Alshalalfa, Ruochen Jiang, Yangyang Hao, Joshua P. Klopper, Elizabeth Cottrill   +5 more
wiley   +1 more source

Gene turnover in the common ancestor of all C4 grasses

PLANTS, PEOPLE, PLANET, EarlyView.
Understanding how plants evolve more efficient photosynthesis is important in a warming world where improving crop productivity and resilience is a global priority. By generating the first reference genomes for an early‐diverging group of grasses called the Aristidoideae, we were able to reconstruct the genetic makeup of the last common ancestor of all
Lara Pereira, Ahmed S. Alenazi, Sahr Mian, Ilia J. Leitch, Pascal‐Antoine Christin, Colin P. Osborne, Luke T. Dunning   +6 more
wiley   +1 more source

Generalizing the Gaussian Network Model: Spanning‐Tree Thermodynamics Shows Entropy‐Driven KRAS Activation

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT The GTPase KRAS executes a conformational switch between a GTP‐bound active state and a GDP‐bound inactive state, a process central to oncogenic signaling. However, the structural basis of this switching at the level of residue‐contact organization remains incompletely characterized by traditional binary structural models.
Fatma Senguler Ciftci, Burak Erman
wiley   +1 more source

Evolutionary trade‐offs between beauvericin production and growth define divergent virulence strategies in Beauveria

Pest Management Science, EarlyView.
Two virulence strategies in Beauveria: a growth strategy characterized by rapid within‐host proliferation, and a toxin strategy involving antimicrobial activity and toxicity to insects Abstract BACKGROUND Pathogen virulence is often attributed to toxin production, yet toxins are metabolically costly and may not universally enhance fitness.
Shasha Hu, Lana L B de Carvalho, Ricardo A Polanczyk, Michael J Bidochka   +3 more
wiley   +1 more source

Baicalein Sensitizes Radioresistant BT549 and MCF7‐R Breast Cancer Cells by Modulating Rac1 Signaling

Phytotherapy Research, EarlyView.
ABSTRACT Radioresistance remains a key barrier in breast cancer (BC) treatment. Baicalein, a flavonoid from Scutellaria baicalensis, has shown potential to enhance radiosensitivity. This study investigates its efficacy and mechanism in radioresistant BC models. Radioresistant BC cell models were established via fractionated irradiation and validated by
Zitong Zhao, Zhangyun Li, Quanzhou Peng, Shuqun Zhang   +3 more
wiley   +1 more source

Comparative Analysis of Stress Adaptation in the Yeast Microbiome of Cactus

Yeast, EarlyView.
Yeasts and related fungi isolated from cacti or nearby non‐cactus plants were characterized phenotypically and genomically, revealing differences that hint at modes of adaptation to the cactus host. ABSTRACT Together with other fungi, yeasts make up a significant component of the plant microbiome. As the planet warms, cacti expand their range.
Alya N. Hussain, Kevin T. Fotso, Michael A. McMurray   +2 more
wiley   +1 more source