Congenital Hyperinsulinism is a condition with a number of genetic causes, but for the majority of patients, the underlying aetiology is unknown. We present here a rational argument for the use of computational biology as a valuable resource for identifying new candidate genes which may cause disease and for understanding the complex mechanisms which define the pathophysiology of this rare disease.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599136 | PMC |
| http://dx.doi.org/10.1186/1750-1172-8-21 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Estimation of Central Aortic Pressure Waveforms by Combination of a Meta-Learning Neural Network and a Physics-Driven Method.
Int J Numer Method Biomed Eng
January 2025
College of Chemistry and Life Science, Beijing University of Technology, Beijing, China.
The accurate non-invasive detection and estimation of central aortic pressure waveforms (CAPW) are crucial for reliable treatments of cardiovascular system diseases. But the accuracy and practicality of current estimation methods need to be improved. Our study combines a meta-learning neural network and a physics-driven method to accurately estimate CAPW based on personalized physiological indicators.
View Article and Find Full Text PDFThe miRNA-mRNA Regulatory Network in Human Hepatocellular Carcinoma by Transcriptomic Analysis From GEO.
Cancer Rep (Hoboken)
January 2025
Department of Medical Biotechnology, School of Advanced Technologies, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Background: Bioinformatics analysis of hepatocellular carcinoma (HCC) expression profiles can aid in understanding its molecular mechanisms and identifying new targets for diagnosis and treatment.
Aim: In this study, we analyzed expression profile datasets and miRNA expression profiles related to HCC from the GEO using R software to detect differentially expressed genes (DEGs) and differentially expressed miRNAs (DEmiRs).
Methods And Results: Common DEGs were identified, and a PPI network was constructed using the STRING database and Cytoscape software to identify hub genes.
encodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic variants have been identified in congenital disorders of glycosylation and somatic variants have been linked to intractable epilepsy associated with malformations of cortical development. However, the functional consequences of these pathogenic variants on brain development and network integrity remain elusive.
View Article and Find Full Text PDFNew insights into roles of IL-7R gene as a diagnostic biomarker for post-stroke depression.
Front Immunol
January 2025
Department of Neurology, Affiliated Nanjing Brain Hospital, Nanjing Medical University, Nanjing, China.
Background: Post-stroke depression (PSD) is the most prevalent neuropsychiatric complication following a stroke. The inflammatory theory suggests that PSD may be associated with an overactive inflammatory response. However, research findings regarding inflammation-related indicators in PSD remain inconsistent and elusive.
View Article and Find Full Text PDFAn integrative taxonomic approach reveals two putatively novel species of phlebotomine sand fly (Diptera: Psychodidae) in Thailand.
Parasit Vectors
January 2025
Center of Excellence in Veterinary Parasitology, Department of Pathology, Faculty of Veterinary Science, Chulalongkorn University, Bangkok, 10330, Thailand.
Background: The subfamily Phlebotominae comprises 1028 species of sand fly, of which only 90 are recognized as vectors of pathogenic agents such as Trypanosoma, Leishmania, and Bartonella. In Thailand, leishmaniasis-a sand fly-borne disease-is currently endemic, with 36 documented sand fly species. However, many cryptic species likely remain unidentified.
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!