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Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.
Indian J Med Res
November 2024
Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
Background & objectives Alkaptonuria (AKU) is an autosomal recessive disease wherein biallelic pathogenic variants in the homogentisate 1,2- dioxygenase (HGD) gene encoding the enzyme homogentisate 1,2 dioxygenase cause high levels of homogentisic acid (HGA) to circulate within the body leading to its deposition in connective tissues and excretion in urine. A homozygous splice donor variant (c.87+1G>A) has been identified to be the founder variant causing alkaptonuria among Narikuravars, a group of gypsies settled in Tamil Nadu.
View Article and Find Full Text PDFDual-Amplification Single-Particle ICP-MS Strategy Based on Strand Displacement Amplification-CRISPR/Cas12a Amplification for Homogeneous Detection of miRNA.
Anal Chem
January 2025
Department of Chemistry, Wuhan University, Wuhan 430072, China.
MicroRNAs (miRNAs) regulate a myriad of biological processes and thus have been regarded as useful biomarkers in biomedical research and clinical diagnosis. The specific and highly sensitive detection of miRNAs is of significant importance. Herein, a sensitive and rapid dual-amplification elemental labeling single-particle inductively coupled plasma-mass spectrometry (spICP-MS) analytical method based on strand displacement amplification (SDA) and CRISPR/Cas12a was developed for miRNA-21 detection.
View Article and Find Full Text PDFImproved characterization of 3' single-cell RNA-seq libraries with paired-end avidity sequencing.
NAR Genom Bioinform
December 2024
Department of Biomedical Informatics, University of Utah School of Medicine, 421 Wakara Way #140, Salt Lake City, UT 84112, USA.
Prevailing poly(dT)-primed 3' single-cell RNA-seq protocols generate barcoded cDNA fragments containing the reverse transcriptase priming site or in principle the polyadenylation site. Direct sequencing across this site was historically difficult because of DNA sequencing errors induced by the homopolymeric primer at the 'barcode' end. Here, we evaluate the capability of 'avidity base chemistry' DNA sequencing from Element Biosciences to sequence through the primer and enable accurate paired-end read alignment and precise quantification of polyadenylation sites.
View Article and Find Full Text PDFComparison of Biomarkers Playing a Role in Pterygium Development in Pterygium and Recurrent Pterygium Tissues.
Diagnostics (Basel)
November 2024
Department of Medical Laboratory Techniques, Ataturk Vocational School of Health Services, Afyonkarahisar Health Sciences University, 03030 Afyonkarahisar, Turkey.
Pterygium is a nonneoplastic elastotic degeneration characterized by subepithelial growth. It manifests as an ocular lesion originating from the bulbar conjunctiva, extending to the corneal surface, and reaching the visual axis in some cases. Although the exact cause is unknown, prolonged exposure to ultraviolet radiation is considered the most significant contributing factor.
View Article and Find Full Text PDFAn Upconversion Fluorescent Resonant Energy Transfer Biosensor for the Detection of microRNA through DNA Hybridization.
ACS Omega
November 2024
Department of Presbyatrics, The 900th Hospital of the People's Liberation Army Joint Service Support Force, Fuzhou 350007, China.
MicroRNAs (miRNAs), a class of small molecules with important regulatory functions, have been widely used in biosensing as biomarkers for the early diagnosis of various diseases (such as osteoporosis). Therefore, it is necessary to develop a miRNA detection platform with high sensitivity and specificity. Herein, an upconversion biosensor based on fluorescent resonant energy transfer (FRET) for the detection of miRNAs was developed.
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