Results 71 to 80 of about 315,999 (305)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

CircRNAs in Tumor Radioresistance

Biomolecules, 2022
Circular RNAs (circRNAs) are endogenous, non-coding RNAs, which are derived from host genes that are present in several species and can be involved in the progression of various diseases. circRNAs’ leading role is to act as RNA sponges.
Yining Gao, Jiawen Gao, Fei Lin, Ting Wang, Sitong Huo, Jiefang Wu, Qi Zhou, Chao Zhang   +7 more
doaj   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

In search of phylogenetic congruence between molecular and morphological data in bryozoans with extreme adult skeletal heteromorphy [PDF]

, 2015
peerreview_statement: The publishing and review policy for this title is described in its Aims & Scope. aims_and_scope_url: http://www.tandfonline.com/action/journalInformation?show=aimsScope&journalCode=tsab20© Crown Copyright 2015.
Abigail M. Smith, Andrea Waeschenbach, Blainville H. M. D. de, Boardman R. S., Borg F., Borg F., Borg F., Busk G., Busk G., Canu F., Canu F., Dennis P. Gordon, Ernst A., Farmer J. D., Goldfuss G. A., Gordon D. P., Gordon D. P., Hagenow F. von, Harmelin J.-G., Harmer S. F., Hutton F. W., Hutton F. W., Hutton F. W., Jenkins H. L., Johnston G., Lamouroux J., MacGillivray P. H., Milne Edwards H., Morton J., Nye O. B. Jr., Paul D. Taylor, Ross J. R. P., Ryland J. S., Schopf T. J. M., Schäfer P., Smith A. M., Stoliczka F., Taylor P. D., Taylor P. D., Taylor P. D., Viskova L. V., Walter B., Whitten R. F.   +42 more
core   +2 more sources

Microglial activation arises after aggregation of phosphorylated-tau in a neuron-specific P301S tauopathy mouse model [PDF]

, 2020
Alzheimer's disease, progressive supranuclear palsy and frontotemporal dementia are characterized by neuronal expression of aberrant tau protein, tau hyperphosphorylation (pTAU), tau aggregation and neurofibrillary tangle formation sequentially ...
Carmans, Sofie, de Vries, Helga E., Franssen, Marc, Kamermans, Alwin, Popovic, Marko, Roucourt, Bart, Schouten, Marijn, Sobrino, Tomás, van der Pol, Susanne M.A., van Olst, Lynn, Vandenbroucke, Roosmarijn, Verhaege, Daan, Wever, Dennis, Ytebrouck, Ellen   +13 more
core   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Genome-wide translation control analysis of developing human neurons

Molecular Brain, 2022
During neuronal differentiation, neuroprogenitor cells become polarized, change shape, extend axons, and form complex dendritic trees. While growing, axons are guided by molecular cues to their final destination, where they establish synaptic connections
Érico Moreto Lins, Natássia Cristina Martins Oliveira, Osvaldo Reis, Adriano Ferrasa, Roberto Herai, Alysson R. Muotri, Katlin Brauer Massirer, Mário Henrique Bengtson   +7 more
doaj   +1 more source

A revision of the neotropical genus Anahi Martínez (Coleoptera: Scarabaeidae: Melolonthinae) with the description of two new species [PDF]

, 2007
El género Anahi Martínez del sur del Neotrópico es comprensivamente revisado y ahora contiene tres especies: A. dentata Ocampo & Ruiz- Manzanos especie nueva, A. guaraniticus Martínez y A. oblivia Ocampo & Ruiz-Manzanos especie nueva. Las nuevas especies
Ocampo, Federico Carlos, Ruiz Manzanos, Eider   +1 more
core   +2 more sources

Regulation of dendritic spine growth through activity-dependent recruitment of the brain-enriched Na+/H+ exchanger NHE5

Molecular Biology of the Cell, 2011
pH homeostasis in neurons plays crucial roles in normal synaptic functions. It is found that the Na+/H+ exchanger NHE5 is targeted to the synapse on neuronal activation, regulates the synaptic pH, and controls the morphology of dendritic spines.
Graham H. Diering, Fergil Mills, S. Bamji, Masayuki Numata   +3 more
semanticscholar   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source