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In this paper the answer to O. B. Ptitsyn's question "What is the role of conserved non-functional residues in apomyoglobin" is presented, which is based on the research results of three laboratories. The role of conserved non-functional apomyoglobin residues in formation of native topology in the molten globule state of this protein is revealed. This fact allows suggesting that the conserved non-functional residues in this protein are indispensable for fixation and maintaining main elements of the correct topology of its secondary structure in the intermediate state. The correct topology is a native element in the intermediate state of the protein.
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http://dx.doi.org/10.1134/S0006297923110184 | DOI Listing |
Int J Ophthalmol
September 2025
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia.
Aim: To detect and segregate causative mutations in congenital families with optic nerve hypoplasia (ONH).
Methods: Two unrelated consanguineous Pakistani families with severe ONH, showing features of micropthalmia, nystagmus, corneal opacity, and keratopathy were included. Genetic analysis was carried out by Target Panel Sequencing, and the nucleotide variant was confirmed by Sanger sequencing.
Genes (Basel)
June 2025
Formerly at Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, Kolkata, West Bengal 700064, India.
The large portion of the eukaryotic genomes was considered non-functional and called the "dark matter" of the genome, now appearing as regulatory hubs coding for RNAs without the potential for making proteins, known as non-coding RNA. Long non-coding RNA (lncRNA) is defined as functional RNA molecules having lengths larger than 200 nucleotides without the potential for coding for proteins. Thousands of lncRNAs are identified in different plants and animals.
View Article and Find Full Text PDFTransl Pediatr
June 2025
Department of Pediatric Surgery, "V. Buzzi" Children's Hospital, Milan, Italy.
Background And Objective: Persistent urinary dribbling in girls with duplex renal systems and ectopic ureters originating from poorly functioning renal moieties represents a complex clinical problem in pediatric urology. The incontinence associated with these anomalies is socially distressing and often refractory to conservative management. Traditional surgical options, including upper pole heminephrectomy or ureteroureterostomy, are effective but may be associated with significant operative morbidity, particularly when renal function is negligible and surgical access is challenging.
View Article and Find Full Text PDFDev Comp Immunol
July 2025
Norwegian College of Fishery Science, Faculty of Bioscience, Fisheries and Economics, University of Tromsø - The Arctic University of Norway, Tromsø, Norway. Electronic address:
Non-classical MHC class I molecules, which are encoded by a diverse gene family, have a wide range of functions that can be immune- or non-immune related. From an evolutionary perspective, different non-classical MHC class I genes are typically specific to smaller phylogenetic groups and are often not well conserved among species within these groups rendering non-classical MHC phylogeny difficult to establish. Here we perform a comparative analysis spanning non-classical MHC class I L lineage gene content, organization, phylogeny and variability across divergent salmonid species, providing insight into L lineage immune system variation and species-specific adaptations.
View Article and Find Full Text PDFPLoS Biol
July 2025
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
Glycosphingolipids (GSL) are important bioactive membrane components. GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside GM2 is processed by β-hexosaminidase A and when non-functional GM2 accumulates causing Tay-Sachs and Sandhoff diseases.
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