Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12088375 | PMC |
| http://dx.doi.org/10.1016/j.jacc.2025.04.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay.
Int J Dev Neurosci
October 2025
Pediatric Health Research Center, Mardani Azari Children Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
Global developmental delay (GDD) and intellectual disability (ID) affect up to 3% of the paediatric population, with a multifactorial aetiology that complicates genetic identification. To date, over 400 genes have been implicated in GDD. Here, we report a novel homozygous splice acceptor variant, NC_000001.
View Article and Find Full Text PDFSubclassification of Phenotypic Homozygous Familial Hypercholesterolemia.
JACC Asia
September 2025
Cardiovascular Center, Osaka Medical and Pharmaceutical University, Takatsuki, Japan.
Homozygous familial hypercholesterolemia (HoFH) is a rare situation where biallelic genetic disturbance of low-density lipoprotein (LDL) metabolism leads to extreme elevation of LDL cholesterol. There is a great variety of severity in their phenotype, where some patients exhibit premature supravalvular aortic stenosis at their early childhood, whereas others experience myocardial infarction at their adolescence. In addition, there is a set of familial hypercholesterolemia (FH) patients whose phenotype fall into between heterozygous FH and HoFH.
View Article and Find Full Text PDFOne Shock, Not One Cure: Electroporation Reveals Disease-Specific Constraints in Hepatocyte Gene Editing Therapy.
Biology (Basel)
August 2025
Department of Bioengineering, Clemson University, Clemson, SC 29634, USA.
We previously demonstrated lipid nanoparticle-mediated CRISPR-Cas9 gene editing to disrupt the gene encoding cytochrome P450 oxidoreductase (Cypor), combined with transient administration of acetaminophen (APAP), to repopulate the liver with healthy hepatocytes and rescue a phenylketonuria mouse model. This study aimed to investigate electroporation-mediated delivery of -targeting CRISPR-Cas9 ribonucleoproteins into wild-type hepatocytes, combined with liver engraftment under APAP treatment, as an in vivo selection approach in a mouse model of homozygous familial hypercholesterolemia (). Electroporation provides higher delivery efficiency compared to lipid nanoparticles.
View Article and Find Full Text PDFExon 11 Mutations in Breast Cancer: A Study From Pakistan.
Genet Res (Camb)
September 2025
Department of Zoology, Hazara University, Mansehra, Khyber Pakhtunkhwa, Pakistan.
Breast cancer ranks among the top causes of cancer-related deaths in women around the globe, with genetic mutations in the gene being a frequent cause of breast or ovarian cancer. This study investigates hotspot mutations in exon 11 of the gene among Pakistani women diagnosed with breast cancer. Thirty clinically diagnosed breast cancer patients, all women, were enrolled in the current study, and high-quality DNA was extracted from peripheral blood samples.
View Article and Find Full Text PDFNon-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.
Semin Arthritis Rheum
August 2025
Rheumatology Unit, Sheba Medical Center, Tel Hashomer. Ramat Gan, 52621, Israel; Gray Faculty of Medical and Health Sciences, Tel Aviv University, P.O.B 39040. Ramat Aviv, Tel Aviv 69978, Israel; Department of Medicine F, Sheba Medical Center, Tel Hashomer. Ramat Gan, 52621, Israel. Electronic addre
Objectives: The homozygous M694V genotype is associated with the most severe form of familial Mediterranean fever (FMF). This study aims to explore whether this genotype is linked not only to classical FMF features, but also to additional, non-canonical manifestations.
Methods: A hypothesis-generating study was conducted using an automated algorithm to extract data from structured medical records of patients followed at the FMF clinic of Sheba Medical Center between 2010 and 2020.