Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.ophtha.2011.04.018 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians.
Sci Rep
December 2024
Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, 11451, Saudi Arabia.
Focusing on the Yashkun population of Gilgit-Baltistan, an administrative territory in northern Pakistan, our study investigated mtDNA haplotypes as indicators of ancient gene flow and genetic diversity. Genomic DNA was extracted and evaluated for quality using agarose gel electrophoresis. The complete control region of mtDNA (nt 16024-576) was amplified via PCR, and sequencing was performed using the Big Dye Terminator Kit on an Applied Biosystems Genetic Analyzer.
View Article and Find Full Text PDFWorldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines.
View Article and Find Full Text PDFGenome-wide analysis of alternative splicing differences in hepatic ischemia reperfusion injury.
Sci Rep
December 2024
Department of Minimally Invasive Hepatic Surgery, Key Laboratory of Hepatosplenic Surgery, the First Affiliated Hospital of Harbin Medical University, Ministry of Education, Harbin, Heilongjiang, China.
Alternative splicing (AS) contributes to transcript and protein diversity, affecting their structure and function. However, the specific transcriptional regulatory mechanisms underlying AS in the context of hepatic ischemia reperfusion (IR) injury in mice have not been extensively characterized. In this study, we investigated differentially alternatively spliced (DAS) genes and differentially expressed transcripts (DETs) in a mouse model of hepatic IR injury using the high throughput RNA sequencing (RNA-seq) analysis and replicate multivariate analysis of transcript splicing (rMATS) analysis.
View Article and Find Full Text PDFDetection and phylogenetic analysis of blood-associated pathogens from spleen samples of wild raccoons (Procyon lotor) in Germany.
Sci Rep
December 2024
Department of Zoology, Musée National d'Histoire Naturelle, Luxembourg, Luxembourg.
Raccoons (Procyon lotor) originated in North America and have been introduced to Europe. Due to their close contact with human settlements, they are important reservoirs for zoonotic pathogens, such as Baylisascaris procyonis. The relevance and prevalence of vector-borne pathogens have not yet been fully elucidated.
View Article and Find Full Text PDFIdentification of RN7SK LncRNA as a novel biomarker in Alzheimer's disease using bioinformatics and expression analysis.
Sci Rep
December 2024
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Alzheimer's disease (AD) is a degenerative illness that accounts for the common type of dementia among adults over the age of 65. Despite extensive studies on the pathogenesis of the disease, early diagnosis of AD is still debatable. In this research, we performed bioinformatics approaches on the AD-related E-MTAB 6094 dataset to uncover new potential biomarkers for AD diagnosis.
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!