Genetic variations in the COL1A1 and COL1A2 genes have been linked to bone mineral density (BMD) and metabolic disorders. This study analyzed the associations of COL1A1 (rs1107946, rs1800012) and COL1A2 (rs42524) polymorphisms with BMD, obesity, and...
Hemerocallis citrina Baroni (H. citrina) is an important specialty vegetable that is not only edible and medicinal but also has ornamental value. However, much remains unknown about the regulatory mechanisms associated with the growth, development, a...
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare autosomal inherited skin disorder caused by mutations in the COL7A1 gene that encodes type VII collagen (C7). The development of an efficient gene replacement strategy for RDEB is mainly hin...
Osteogenesis imperfecta (OI) is a genetic disease characterized by bone fragility and repeated fractures. The bone fragility associated with OI is caused by a defect in collagen formation due to mutation of COL1A1 or COL1A2. Current strategies for tr...
Background/Objectives: Aging leads to physiological changes influenced by lifestyle, environment, and genetics, increasing the risk of morbidity and mortality in older adults. COL1A1 gene encodes an essential protein in connective tissues, which is a...
Background: Dystrophic Epidermolysis bullosa (DEB) is a rare, severe subtype of epidermolysis bullosa (EB), characterized by blisters and miliary rashes of the skin. Dystrophic EB (DEB) includes variants inherited both in an autosomal-dominant or aut...
28 December 2022
Understanding the risk factors and etiology of ACL ruptures (anterior cruciate ligament) is crucial due to the injury’s high occurrence, significant financial cost to the healthcare sector, and clinical consequences. In this study, we investigated th...
Collagen VI is an extracellular matrix component encoded by COL6A1, COL6A2 and COL6A3 genes. Causative variants in these genes are associated with the following collagen VI-related myopathies: severe Ullrich congenital muscular dystrophy (UCMD), mild...
Background: COL4A1/2-related disorders are genetically driven multisystem diseases characterized by small vessel cerebrovascular pathology, including fetal and perinatal strokes, intracranial hemorrhage, and progressive white matter damage [...]
CONSTANS-like (COL) genes play important regulatory roles in flowering, tuber formation and the development of the potato (Solanum tuberosum L.). However, the COL gene family in S. tuberosum has not been systematically identified, restricting our kno...
Collagen, type III, alpha-1 (COL3A1) is essential for normal collagen I fibrillogenesis in many organs. There are differences in phenotypes of mutations in the COL3A1 gene in humans and mutations in mice. In order to investigate whether the regulatio...
Gould syndrome is caused by mutations in the genes encoding collagen IV alpha 1 (COL4A1) and 2 (COL4A2)—fundamental basement membrane components that form collagen α1α1α2(IV) heterotrimers [...]
The CONSTANS-like (COL) gene family plays critical roles in plant growth, development, stress responses, and light signal transduction. However, its functions in peanut (Arachis hypogaea) remain poorly understood. In this study, we identified 18 AhCO...
The carapace of the Chinese soft-shelled turtle (Pelodiscus sinensis) is rich in collagen and stands as a crucial economic trait for assessing its quality, as well as a key indicator for selective breeding. However, current studies on the mechanisms...
Background: Alport syndrome is a hereditary disorder caused by pathogenic variants in the COL4A gene, which can be inherited in an autosomal recessive, dominant, or X-linked pattern. In the Bukharian Jewish population, no founder pathogenic variant h...
Several studies have investigated the role of genetics in anterior cruciate ligament (ACL) rupture, often returning conflicting results. The present pilot study aimed to analyze the association between six Single Nucleotide Polymorphisms (SNPs) (rs18...
The recessive form of dystrophic epidermolysis bullosa (RDEB) is a debilitating disease caused by impairments in the junctions of the dermis and the basement membrane of the epidermis. Mutations in the COL7A1 gene induce multiple abnormalities, inclu...
This study highlights the importance of a combined diagnostic approach in the diagnosis of rare diseases, such as adult-onset genetic FSGS. We present three adult patient cases evaluated with kidney biopsy for proteinuria, chronic kidney disease, and...
In recent years, factors such as the postponement of childbearing and the relaxation of the childbearing policy have led to an increase in the proportion of cesarean sections and other intrauterine surgeries among pregnant women, further increasing t...
Zebrafish are now widely used to study skeletal development and bone-related diseases. To that end, understanding osteoblast differentiation and function, the expression of essential transcription factors, signaling molecules, and extracellular matri...
The pathophysiology of atopic dermatitis (AD) is complex, multifactorial, and not fully understood. Genes encoding collagens, the most abundant proteins in the extracellular matrix (ECM), may play a potential role in the pathogenesis of AD. Our study...
Plants are constantly exposed to microbes, for this reason they have evolved sophisticated strategies to perceive and identify biotic interactions. Thus, plants have large collections of so-called resistance (R) proteins that recognize specific micro...
The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding...
The COL1A1 and COL5A1 variants have been associated with the risk of musculoskeletal injuries. Therefore, the main aim of the study was to investigate the association between three polymorphisms within two genes (rs1800012 in COL1A1, as well as rs127...
Collagen hydrolysate (CH) has been reported to exhibit a positive effect on bone. In the present study, the in vitro effects of CH (<3 kDa) were examined and the in vivo experiments confirmed the positive effects of CH in ovariectomized (OVX) rats...
Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly caused by dominant-negative pathogenic variants in the genes encoding α chains of collagen...
Age-related macular degeneration (AMD) is a complex retinal disease influenced by genetic and metabolic factors. Genetic variants impact disease susceptibility, while alterations in amino acid and purine metabolism are involved in AMD development. Th...
This detailed review describes innovative strategies and current products for gene and cell therapy at different stages of research and development to treat recessive dystrophic epidermolysis bullosa (RDEB) which is associated with the functional def...
Mucopolysaccharidosis (MPS IVA) is caused by pathogenic variations in the GALNS gene, leading to the accumulation of glycosaminoglycans in tissues and causing progressive skeletal lesions. While conventional lentiviral vectors (LVs) provide long-term...
Ovarian cancer rates the highest mortality among all gynecological malignancies. The main reason for high mortality is the development of drug resistance. It can be related to increased expression of drug transporters and increased expression of extr...
Andrographis paniculata is an important medicinal herb known as a “natural antibiotic”, which has been used in Southeast Asia for thousands of years. The CONSTANS-like (COL) gene is an important regulatory factor for plant photoperiod flo...
The purpose of this study was to investigate the effect of dietary lecithin on skeletal muscle gene expression of collagen precursors and enzymes involved in collagen synthesis and degradation. Finisher gilts with an average start weight of 55.9 ± 2....
Collagen VI is a heterotrimeric protein expressed in several tissues and involved in the maintenance of cell integrity. It localizes at the cell surface, creating a microfilamentous network that links the cytoskeleton to the extracellular matrix. The...
CONSTANS (CO) is an important regulator of photoperiodic flowering and functions at a key position in the flowering regulatory network. Here, two CO homologs, MiCOL16A and MiCOL16B, were isolated from “SiJiMi” mango to elucidate the mecha...
A bioactivity-guided separation strategy was used to identify novel antistroke compounds from Gymnadenia conopsea (L.) R. Br., a medicinal plant. As a result, 4 undescribed compounds (1–2, 13, and 17) and 13 known compounds, including 1 new nat...
Body weight is the principal economic trait in snakehead aquaculture, yet the genetic architecture of growth in the northern snakehead (Channa argus) remains largely unexplored. We performed a genome-wide association study (GWAS) for body weight in 2...
CONSTANS (CO) and CONSTANS-like (COL) genes play important roles in coalescing signals from photoperiod and temperature pathways. However, the mechanism of CO and COLs involved in regulating the developmental stage transition and photoperiod/temperat...
Background: Anterior cruciate ligament (ACL) rupture, Achilles tendinopathy, and stress fracture are common sports injuries with significant long-term effects on performance and health. Despite similar exposure, injury susceptibility varies among ath...
Osteoarthritis (OA) is a degenerative disease of the joints which is associated with an impaired production of the cartilage matrix by the chondrocytes. Here, we investigated the role of Lysine-Specific Demethylase-1 (LSD1), a chromatin remodeling en...
The COL3A1 gene, encoding the pro-alpha chain of type III collagen, has been implicated in a range of collagen-mediated diseases such as Ehlers–Danlos syndrome and aortic aneurysms. In this report, we present evidence for the first time associa...
Meloidogyne enterolobii, a highly pathogenic root-knot nematode species, causes serious damage to agricultural production worldwide. Collagen is an important part of the nematode epidermis, which is crucial for nematode shape maintenance, motility, a...
The purpose of this study was to compare the frequency of COL1A1 rs1107946 polymorphism between sport climbers and controls from three ethnic groups (Japanese, Polish, and Russian) and investigate the effect of the COL1A1 rs1107946 polymorphism on th...
We report on a patient born to consanguineous parents, presenting with Growth Hormone Deficiency (GHD) and osteoporosis. SNP-array analysis and exome sequencing disclosed long contiguous stretches of homozygosity and two distinct homozygous variants...
The Hfq protein is a bacterial RNA chaperone, involved in many molecular interactions, including control of actions of various small RNA regulatory molecules. We found that the presence of Hfq was required for survival of plasmid-containing Escherich...
Kidney injury due to focal segmental glomerulosclerosis (FSGS) is the most common primary glomerular disorder causing end-stage renal disease. Homozygous mutations in either glomerular basement membrane or slit diaphragm genes cause early renal failu...
L-Sorbose induces hyperbranching of hyphae, which results in colonial growth in Neurospora crassa. The sor-4 gene, which encodes a glucose sensor that acts in carbon catabolite repression (CCR), has been identified as a sorbose resistance gene. In th...
The COL1A1 gene encodes the α1 chain of type I collagen, and the data reported so far demonstrate that its polymorphic variants may affect biomechanical properties of bones, muscles, and tendons, and contribute to musculoskeletal disorders. Giv...
The formation of the Chinese three-keeled pond turtle (Mauremys reevesii) carapace is a complex biological event involving developmental processes such as collagen deposition and ossification. As a key regulator of collagen deposition and ossificatio...
In recent years, genetic studies have brought new insights into psoriasis, a chronic inflammatory disease with multiple determining and favoring factors. Recent advances in the technology of genetic analysis have enabled the discovery of many loci wi...
Coronary artery disease (CAD) is a syndrome resulting from myocardial ischaemia of heterogeneous pathomechanism. Environmental and genetic factors contribute to its development. Atherosclerotic plaques that significantly narrow the lumen of coronary...
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