Results 131 to 140 of about 22,244,058 (261)

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

open access: yesCytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith   +9 more
wiley   +1 more source

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples   +10 more
wiley   +1 more source

The role of Rho GTPases in facial morphogenesis

open access: yesDevelopmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Integrative Genomic and Functional Investigation of the Multi‐Layered Genetic Architecture Between Anorexia Nervosa and Bone Loss

open access: yesInternational Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Bone loss is a severe and often irreversible complication of anorexia nervosa (AN), yet the genetic mechanisms underlying this comorbidity remain underexplored. This study focuses on constructing a comprehensive genetic architecture between AN and estimated calcaneal bone mineral density (eBMD).
Tao Han   +14 more
wiley   +1 more source

Causal correlations between inflammatory proteins and heart failure: A two‐sample Mendelian randomization analysis

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1374-1385, April 2025.
Abstract Aims Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation‐related proteins and HF risk remains unclear.
Xian‐Guan Zhu   +9 more
wiley   +1 more source

Multivariate genetic analyses test for the presence of a general '<i>n</i>' factor underlying neurodevelopmental conditions. [PDF]

open access: yesJCPP Adv
Abstract Background Neurodevelopmental conditions often emerge early in life and have substantial genetic influences. There are significant genetic correlations between neurodevelopmental conditions, such as between autism spectrum disorder (Autism) and attention deficit‐hyperactivity disorder (ADHD), and they are listed together in diagnostic manuals.
Morgan MJ   +3 more
europepmc   +2 more sources

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n 
Sophie von Brauchitsch   +27 more
wiley   +1 more source

Screening tests for Disease Risk Haplotype Segments in Genome by Use of Permutation [PDF]

open access: yes, 2015
The haplotype association analysis has been proposed to capture the collective behavior of sets of variants by testing the association of each set instead of individual variants with the disease.
Ali, Fadhaa, Zhang, Jian
core  

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

open access: yesEpilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia   +4 more
wiley   +1 more source

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