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Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?
BMC Pregnancy Childbirth
November 2024
The Genetics Laboratory, Longgang District maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong, China.
Article Synopsis
- The study aimed to analyze ultrasound findings, SNP-array results, and pregnancy outcomes in fetuses with 7q11.23 deletions and duplications during the second and third trimesters, gathering comprehensive data from a Chinese medical center over several years.
- Seven fetuses with 7q11.23 deletions and six with duplications were diagnosed, revealing significant clinical abnormalities such as intrauterine growth restriction and various cardiovascular issues; the deletions were associated with more serious ultrasound findings.
- Most pregnancies (seven deletions and three duplications) were terminated due to the severe abnormalities discovered, indicating a high risk linked to these genetic conditions.
Associations between Disc Hemorrhage and Primary Open-Angle Glaucoma Based on Genome-Wide Association and Mendelian Randomization Analyses.
Biomedicines
October 2024
Department of Ophthalmology, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
Article Synopsis
- - The study investigated genetic factors related to disc hemorrhage (DH) and its potential link to primary open-angle glaucoma (POAG) using data from 8,488 Koreans.
- - Significant single-nucleotide polymorphisms (SNPs) associated with DH were identified, with heritability estimated at 6.7%, but no genetic correlation with POAG was found.
- - Mendelian randomization analysis indicated there is no causal relationship between DH and POAG, suggesting that while DH is a risk factor, it may not directly cause POAG.
Cardiovascular Disease May Be Triggered by Gut Microbiota, Microbial Metabolites, Gut Wall Reactions, and Inflammation.
Int J Mol Sci
October 2024
Department of Microbiology, Stellenbosch University, Stellenbosch 7600, South Africa.
Cardiovascular disease (CVD) may be inherited, as recently shown with the identification of single nucleotide polymorphisms (SNPs or "snips") on a 250 kb DNA fragment that encodes 92 proteins associated with CVD. CVD is also triggered by microbial dysbiosis, microbial metabolites, metabolic disorders, and inflammatory intestinal epithelial cells (IECs). The epithelial cellular adhesion molecule (Ep-CAM) and trefoil factor 3 (TFF3) peptide keeps the gut wall intact and healthy.
View Article and Find Full Text PDFAltered Elastin Turnover, Immune Response, and Age-Related Retinal Thinning in a Transgenic Mouse Model With RPE-Specific HTRA1 Overexpression.
Invest Ophthalmol Vis Sci
July 2024
Department of Ophthalmology, Medical University of South Carolina, Charleston, South Carolina, United States.
Purpose: A single-nucleotide polymorphism in HTRA1 has been linked to age-related macular degeneration (AMD). Here we investigated the potential links between age-related retinal changes, elastin turnover, elastin autoantibody production, and complement C3 deposition in a mouse model with RPE-specific human HTRA1 overexpression.
Methods: HTRA1 transgenic mice and age-matched CD1 wild-type mice were analyzed at 6 weeks and 4, 6, and 12 to 14 months of age using in vivo retinal imaging by optical coherence tomography (OCT) and fundus photography, as well as molecular readouts, focusing on elastin and elastin-derived peptide quantification, antielastin autoantibody, and total Ig antibody measurements and immunohistochemistry to examine elastin, IgG, and C3 protein levels in retinal sections.
Treatment outcome and germline predictive factors of ropeginterferon alpha-2b in myeloproliferative neoplasm patients.
Cancer Med
April 2024
College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Background: Studies have shown that some single nucleotide polymorphisms (SNPs) could serve as excellent markers in foretelling the treatment outcome of interferon (IFN) in myeloproliferative neoplasms (MPN). However, most work originated from western countries, and data from different ethnic populations have been lacking.
Methods: To gain insights, targeted sequencing was performed to detect myeloid-associated mutations and SNPs in eight loci across three genes (IFNL4, IFN-γ, and inosine triphosphate pyrophosphatase [ITPA]) to explore their predictive roles in our cohort of 21 ropeginterferon alpha-2b (ROPEG)-treated MPN patients, among whom real-time quantitative PCR was also performed periodically to monitor the JAK2V617F allele burden in 19 JAK2V617F-mutated cases.
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