Many common diseases and disorders, such as hypertension, diabetes, arthritis, and epilepsy, have a genetic component with a complex genetic architecture. Evidence for a genetic influence on epilepsy emerged in twin studies that reported concordance rates consistently higher in monozygotic than in dizygotic twins (Lennox, 1951; Sillanpää et al., 1991; Berkovic et al., 1998). The causation of epilepsy is multifactorial (a combination of environmental and genetic risk factors), and the genetic part is very complex (polygenic). For example, mutations in different genes can cause the same syndromes in different families (Cossette et al., 2002; Suzuki et al., 2004). Equally concerning is the second complication of variable expressivity, in which mutations in a single gene can produce different epilepsy phenotypes in different individuals as a result of modifying genetic or environmental factors (Kanai et al., 2004; Mulley et al., 2005). Therefore, similar to many other complex diseases, it has been suggested that epilepsy is a polygenic syndrome, influenced by the effect of variation at several or multiple genes (reviewed in Ottman et al., 1996; Anderson et al., 2002).
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http://dx.doi.org/10.1111/j.1528-1167.2009.02372.x | DOI Listing |
Elife
January 2025
Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.
View Article and Find Full Text PDFPlant Cell Environ
January 2025
College of Resources and Environmental Sciences, Department of Plant Nutrition, China Agricultural University, Beijing, Haidian, China.
The occurrence of external L-glutamate at the Arabidopsis root tip triggers major changes in root architecture, but the mechanism of -L-Glu sensing is unknown. Members of the family of GLUTAMATE RECEPTOR-LIKE (GLR) proteins are known to act as amino acid-gated Ca-permeable channels and to have signalling roles in diverse plant processes. To investigate the possible role of GLRs in the root architectural response to L-Glu, we screened a collection of mutants with T-DNA insertions in each of the 20 AtGLR genes.
View Article and Find Full Text PDFHistol Histopathol
January 2025
Neuropharmacology Division, Department of Pharmacology, ISF College of Pharmacy, Moga, Punjab, India.
Autism spectrum disorder (ASD) is a globally recognized neurodevelopmental condition characterized by repetitive and restrictive behavior, persistent deficits in social interaction and communication, mental disturbances, etc., affecting approximately 1 in 100 children worldwide. A combination of genetic and environmental factors is involved in the etiopathogenesis of the disease, but specific biomarkers have not yet been identified.
View Article and Find Full Text PDFDevelopment
January 2025
Department of Organismic and Evolutionary Biology, Museum of Comparative Zoology, Harvard University, Cambridge, MA 02138, USA.
Developmental biologists can perform studies that describe a phenomenon (descriptive work) and/or explain how the phenomenon works (mechanistic work). There is a prevalent perception that molecular/genetic explanations achieved via perturbations of gene function are the primary means of advancing mechanistic knowledge. We believe this to be a limited perspective, one that does not effectively represent the breadth of work in our field.
View Article and Find Full Text PDFCurr Med Chem
January 2025
Shree S K Patel College of Pharmaceutical Education and Research, Ganpat University, Mahesana, Gujarat, 384012, India.
Therapeutic hurdles persist in the fight against lung cancer, although it is a leading cause of cancer-related deaths worldwide. Results are still not up to par, even with the best efforts of conventional medicine, thus new avenues of investigation are required. Examining how immunotherapy, precision medicine, and AI are being used to manage lung cancer, this review shows how these tools can change the game for patients and increase their chances of survival.
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