Results 221 to 230 of about 1,028,023 (313)

Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern. [PDF]

open access: yesFront Genet, 2021
Simonetti L   +8 more
europepmc   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev   +14 more
wiley   +1 more source

Urinary Metabolic Biomarkers of Attentional Control in Children With Attention‐Deficit/Hyperactivity Disorder: A Dimensional Approach Through 1H NMR‐Based Metabolomics

open access: yesNMR in Biomedicine, Volume 38, Issue 8, August 2025.
This study identified five attentional control subgroups in school‐aged children, with and without ADHD, using VR‐based behavioral tests. NMR metabolomics revealed subgroup‐specific urinary metabolic profiles linked to energy and amino acid metabolism.
Ana del Mar Salmerón   +6 more
wiley   +1 more source

The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism

open access: yesBiological Reviews, Volume 100, Issue 4, Page 1484-1511, August 2025.
ABSTRACT Evolutionary explanations of mental disorders are a longstanding aim of evolutionary psychiatry, but have suffered from complexities including within‐disorder heterogeneity and environmental effects of contemporary societies obscuring possible ancestral functions.
Adam D. Hunt, Adrian V. Jaeggi
wiley   +1 more source

Evaluating the associations between intelligence quotient and multi-tissue proteome from the brain, CSF and plasma. [PDF]

open access: yesBrain Commun
Shi S   +13 more
europepmc   +1 more source

Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study

open access: yesAnnals of Neurology, Volume 98, Issue 1, Page 48-61, July 2025.
Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano   +13 more
wiley   +1 more source

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