Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.bcmd.2012.05.006 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Comprehensive Non-invasive Versus Invasive Approach to Evaluate Cardiac Allograft Vasculopathy in Heart Transplantation: The CCTA-HTx Study.
Circ Cardiovasc Imaging
January 2025
Cardiovascular Center Aalst, Onze-Lieve-Vrouwziekenhuis (OLV) Clinic, Aalst, Belgium (M. Belmonte, P.P., M.M.V., M. Beles, H.O., R.S., G.E., M.S., R.D., W.H., J.V.K., J.B., M.V.).
Background: Coronary computed tomography angiography (CCTA) is emerging as a valuable tool for noninvasive surveillance of cardiac allograft vasculopathy (CAV) in patients with heart transplant (HTx). We assessed the diagnostic performance of a comprehensive CCTA-based approach compared with the invasive reference, which includes invasive coronary angiography, intravascular ultrasound, and fractional flow reserve, for detecting CAV.
Methods: This was a multicenter prospective study including 37 patients with HTx who underwent CCTA, invasive coronary angiography, intravascular ultrasound, and fractional flow reserve.
Effects of miRNAs in inborn error of metabolism and treatment strategies.
Postgrad Med J
January 2025
Department of Pediatric Metabolic Diseases, University of Health Sciences, Ankara Etlik City Hospital, Ankara 06170, Turkey.
Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, ⁓19-25 nucleotides long, hairpin-shaped, produced from DNA.
View Article and Find Full Text PDFBlood plasma proteomic markers of Alzheimer's disease, current status and application prospects.
Expert Rev Proteomics
January 2025
Skolkovo Institute of Science and Technology, Moscow, Russian Federation.
Introduction: Identifying early risks of developing Alzheimer's disease (AD) is a major challenge as the number of patients with AD steadily increases and requires innovative solutions. Current molecular diagnostic modalities, such as cerebrospinal fluid (CSF) testing and positron emission tomography (PET) imaging, exhibit limitations in their applicability for large-scale screening. In recent years, there has been a marked shift toward the development of blood plasma-based diagnostic tests, which offer a more accessible and clinically viable alternative for widespread use.
View Article and Find Full Text PDFBuilding a teaching method for "clinical molecular biology testing technology" guided by the cultivation of thinking skills.
Biochem Mol Biol Educ
January 2025
College of Clinical Medicine, Hunan University of Chinese Medicine, Changsha, China.
The knowledge of "clinical molecular biology testing technology" is complex, conceptual expressions are abstract and difficult to understand, and the student's interest in learning is low. This study aimed to evaluate the effectiveness of a cyclic teaching method based on case analysis combined with an exploratory teaching method using mind mapping as an assignment. Students from the 2019 cohort of medical laboratory technology at Hunan University of Chinese Medicine served as the control group and received conventional lecture-based teaching methods.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!