Results 61 to 70 of about 1,025,641 (274)

The Fragile X Syndrome: Behavioral Phenotype and Learning Disabilities

open access: yesSiglo Cero, 2016
In this article, we describe the behavioral phenotype of individuals with Fragile X Syndrome and its impact in the educational scope. This syndrome is characterized by difficulties in sensory integration, cognitive deficits (verbal reasoning, abstract ...
Claudia GRAU RUBIO   +2 more
doaj   +1 more source

Cognitive comorbidities of experimental absence seizures are independent of anxiety

open access: yesNeurobiology of Disease, 2023
Typical absence seizures (ASs) are brief periods of lack of consciousness, associated with 2.5–4 Hz spike-wave discharges (SWDs) in the EEG, which are highly prevalent in children and teenagers.
Mariana Neuparth-Sottomayor   +11 more
doaj   +1 more source

Metastatic niche shaped by host factors influences disseminated cancer cell fate

open access: yesFEBS Letters, EarlyView.
Metastasis is shaped not only by cancer cells but also by the environments they encounter. This review explores how factors such as aging, diet, the microbiome, lifestyle, and environmental exposures remodel organ‐specific niches in the lung, liver, bone, and brain, influencing where metastatic cells survive, remain dormant, or grow, and ultimately ...
Gwennan Delyth Ward   +2 more
wiley   +1 more source

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

open access: yesBMC Neurology, 2020
Background A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these
Filipa Bastos   +9 more
doaj   +1 more source

A phenotypic analysis of GP-evolved team behaviours [PDF]

open access: yesProceedings of the 9th annual conference on Genetic and evolutionary computation, 2007
This paper presents an approach to analyse the behaviours of teams of autonomous agents who work together to achieve a common goal. The agents in a team are evolved together using a genetic programming (GP) [8] approach where each team of agents is represented as a single GP tree or chromosome.
Darren Doherty, Colm O'Riordan
openaire   +2 more sources

Lysyl oxidase (LOX)‐mediated remodeling of the extracellular matrix

open access: yesFEBS Letters, EarlyView.
The lysyl oxidase (LOX) family of enzymes drives extracellular matrix remodeling by oxidizing collagen, elastin, and fibronectin, promoting covalent cross‐link formation. This activity regulates tissue architecture and mechanical properties, while its dysregulation contributes to fibrosis, cardiovascular disease, glaucoma, connective tissue disorders ...
Fernando Rodríguez‐Pascual   +3 more
wiley   +1 more source

Behavioural phenotyping assays for mouse models of autism [PDF]

open access: yesNature Reviews Neuroscience, 2010
Autism is a heterogeneous neurodevelopmental disorder of unknown aetiology that affects 1 in 100-150 individuals. Diagnosis is based on three categories of behavioural criteria: abnormal social interactions, communication deficits and repetitive behaviours.
Jill L, Silverman   +3 more
openaire   +2 more sources

Comparing the paths of Hedgehog release in artificial and natural settings

open access: yesFEBS Letters, EarlyView.
Hh morphogens require solubilization factors to overcome their tight association with the plasma membrane and signal to distant cells, but the precise functions of these factors are controversial. Here, we use published in vivo observations as the most relevant evidence to test their suggested functions and discuss contradictions and gaps between in ...
Janna Puschmann, Kay Grobe
wiley   +1 more source

Mania in Cornelia de Lange Syndrome: Diagnostic Challenges and the Role of Multidisciplinary Care – A Case Report [PDF]

open access: yesEurasian Journal of Family Medicine
Cornelia de Lange syndrome is a rare cohesinopathy characterized by multisystem involvement, intellectual disability, and a distinct behavioural phenotype. Psychiatric comorbidities remain underrecognised.
Alvin J Joseph, John Abraham
doaj   +1 more source

Behavioural Phenotyping of APPswe/PS1δE9 Mice: Age-Rrelated Changes and Effect of Long-Term Paroxetine Treatment. [PDF]

open access: yesPLoS ONE, 2016
Alzheimer's disease (AD) is a devastating illness characterized by a progressive loss of cognitive, social, and emotional functions, including memory impairments and more global cognitive deficits.
Louise Ørum Olesen   +6 more
doaj   +1 more source

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