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Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population.
Eye Vis (Lond)
January 2025
National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Background: Keratoconus (KC) is a prevalent corneal condition with a modest genetic basis. Recent studies have reported significant genetic associations in multi-ethnic cohorts. However, the situation in the Chinese population remains unknown.
View Article and Find Full Text PDFNew Approaches to Lipoproteins for the Prevention of Cardiovascular Events.
J Atheroscler Thromb
December 2024
Victorian Heart Institute, Monash University.
Atherosclerotic cardiovascular disease (ASCVD) is a leading global cause of mortality, and recent research has underscored the critical role of lipoproteins in modulating cardiovascular (CV) risk. Elevated low-density lipoprotein cholesterol (LDL-C) levels have been linked to increased CV events, and while numerous trials have confirmed the efficacy of lipid-lowering therapies (LLT), significant gaps remain between recommended LDL-C targets and real-world clinical practice. This review addresses care gaps in LLT, emphasizing the necessity for innovative approaches that extend beyond LDL-C management.
View Article and Find Full Text PDFCorrelation between polygenic risk scores of depression and cortical morphology networks.
J Psychiatry Neurosci
January 2025
From the Department of Psychiatry, Renmin Hospital of Wuhan University, Wuhan, China (Gong, Wang, Nie, Ma, Zhou, Deng, Xie, Lyu, Chen, Kang, Liu); the Taikang Center for Life and Medical Sciences, Wuhan University, Wuhan, China (Liu)
Background: Cortical morphometry is an intermediate phenotype that is closely related to the genetics and onset of major depressive disorder (MDD), and cortical morphometric networks are considered more relevant to disease mechanisms than brain regions. We sought to investigate changes in cortical morphometric networks in MDD and their relationship with genetic risk in healthy controls.
Methods: We recruited healthy controls and patients with MDD of Han Chinese descent.
Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens.
Hum Genomics
December 2024
Department of Clinical Neurosciences, 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania.
Neurodegenerative diseases present complex genetic architectures, reflecting a continuum from monogenic to oligogenic and polygenic models. Recent advances in multi-omics data, coupled with systems genetics, have significantly refined our understanding of how these data impact neurodegenerative disease mechanisms. To contextualize these genetic discoveries, we provide a comprehensive critical overview of genetic architecture concepts, from Mendelian inheritance to the latest insights from oligogenic and omnigenic models.
View Article and Find Full Text PDFGenetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.
Ann Rehabil Med
December 2024
Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Cerebral palsy (CP) is the most common motor disability in children, characterized by diverse clinical manifestations and often uncertain etiology, which has spurred increasing interest in genetic diagnostics. This review synthesizes findings from various studies to enhance understanding of CP's genetic underpinnings. The discussion is structured around five key areas: monogenic causes and copy number variants directly linked to CP, differential genetic disorders including atypical CP and mimics, ambiguous genetic influences, co-occurrence with other neurodevelopmental disorders, and polygenic risk factors.
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