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| http://dx.doi.org/10.1038/cr.2016.97 | DOI Listing |
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Local cortical structure pattern and genetic links in schizophrenia: An MRI and CRISPR/Cas9 study.
Prog Neuropsychopharmacol Biol Psychiatry
January 2025
Institute of Brain Science, National Yang-Ming Chiao Tung University, Taipei 11221, Taiwan; Brain Research Center, National Yang-Ming Chiao Tung University, Taipei 11221, Taiwan; Digital Medicine and Smart Healthcare Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:
While the etiology of schizophrenia (SZ) remains elusive, its diverse phenotypes suggest the involvement of distinct functional cortical areas, and the heritability of SZ implies the underlying genetic factors. This study aimed to integrate imaging and molecular analyses to elucidate the genetic underpinnings of SZ. We investigated the local cortical structural pattern changes in Brodmann areas (BAs) by calculating the cortical structural pattern index (SPI) using magnetic resonance imaging analysis from 194 individuals with SZ and 330 controls.
View Article and Find Full Text PDFDeep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis.
Brain
January 2025
State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, Clinical Center for Brain and Spinal Cord Research, School of Medicine, Tongji University, 200331, Shanghai, China.
Amyotrophic lateral sclerosis (ALS) is a severe motor neuron disease, with most sporadic cases lacking clear genetic causes. Abnormal pre-mRNA splicing is a fundamental mechanism in neurodegenerative diseases. For example, TAR DNA-binding protein 43 (TDP-43) loss-of-function (LOF) causes widespread RNA mis-splicing events in ALS.
View Article and Find Full Text PDFGenetic insights into CRP levels in Indian adolescents: confirming adult genetic associations.
Mol Genet Genomics
January 2025
Systems Genomics Laboratory, School of Biotechnology, Jawaharlal Nehru University, New Delhi, 110067, India.
CRP is a biomarker of acute inflammation linked to metabolic complications. Given the rising prevalence of these conditions in India, we investigated the genetic basis of CRP levels in Indian adolescents, an underrepresented group in genetic studies, to identify early markers of metabolic risk. We performed a two-phased genome-wide association study (GWAS; N = 5052) and an independent Exome-wide association study (ExWAS; N = 4547), to identify both common and rare genetic variants associated with CRP levels.
View Article and Find Full Text PDFGenome-Wide Screening in Haploid Stem Cells Reveals Synthetic Lethality Targeting MLH1 and TP53 Deficient Tumours.
Cell Prolif
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NewStem LTD, Jerusalem, Israel.
Synthetic lethality is defined as a type of genetic interaction where the combination of two genetic events results in cell death, whereas each of them separately does not. Synthetic lethality can be a useful tool in personalised oncology. MLH1 is a cancer-related gene that has a central role in DNA mismatch-repair and TP53 is the most frequently mutated gene in cancer.
View Article and Find Full Text PDFGenetic Predisposition to Low-Density Lipoprotein Cholesterol and Incident Type 2 Diabetes.
JAMA Cardiol
January 2025
Program of Medical and Population Genetics, Broad Institute of MIT (Massachusetts Institute of Technology) and Harvard, Cambridge, Massachusetts.
Importance: Treatment to lower high levels of low-density lipoprotein cholesterol (LDL-C) reduces incident coronary artery disease (CAD) risk but modestly increases the risk for incident type 2 diabetes (T2D). The extent to which genetic factors across the cholesterol spectrum are associated with incident T2D is not well understood.
Objective: To investigate the association of genetic predisposition to increased LDL-C levels with incident T2D risk.
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