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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDF"High specificity of PCR in diagnosing mucocutaneous leshminiasis: a systematic review and meta analysis".
BMC Infect Dis
December 2024
Department of Community Health Sciences, Aga Khan University, Karachi, Pakistan.
Background: Mucocutaneous leishmaniasis (MCL) is a severe form of leishmaniasis causing chronic and destructive lesions. Accurate diagnosis is crucial for effective treatment. Traditional methods, such as the Montenegro skin test is delayed hypersensitivity test.
View Article and Find Full Text PDFMicrosatellites markers fostering the understanding of malaria parasite biology, epidemiology and population genetics.
Diagn Microbiol Infect Dis
December 2024
Department of Molecular Epidemiology, National Institute of Malaria Research, Sector-8, Dwarka, Delhi 110077, India. Electronic address:
Microsatellites, or simple sequence repeats (SSRs), are short tandemly repeated DNA sequences widely dispersed throughout the genome. Their high variability, co-dominant inheritance, and ease of detection make them valuable genetic markers, frequently used to study genetic diversity, population structure, and evolutionary processes. In the context of malaria research, particularly with Plasmodium falciparum (P.
View Article and Find Full Text PDFLocation of polyglutamine track affects pathogenic threshold of polyglutamine expansion diseases - Importance of association with the proteasome.
Biochem Biophys Res Commun
December 2024
Laboratory of Molecular Neurodegeneration, Peter the Great St Petersburg State Polytechnical University, St Petersburg, 195251, Russian Federation. Electronic address:
The expansion of glutamine residue track (polyQ) within soluble proteins (Q proteins) is responsible for nine autosomal-dominant genetic neurodegenerative disorders. These disorders develop when polyQ expansion exceeds a specific pathogenic threshold (Q) which is unique for each disease. However, the pathogenic mechanisms associated with the variability of Q within the family of Q proteins are poorly understood.
View Article and Find Full Text PDFUsing uniparental genetic profiles to unravel the complexity of Argentine admixed populations.
Forensic Sci Int Genet
December 2024
DNA Diagnostic Laboratory, Institute of Biology Roberto Alcantara Gomes, State University of Rio de, Rio de Janeiro 20550-900, Brazil.
Latin American countries are distinguished by their highly admixed populations, characterized by a significant preservation of Native American matrilineal ancestry. This contrasts with the paternal lineages, which exhibit different patterns due to pronounced sex-biased mating practices during the colonial period. Uniparental genetic markers have been instrumental in population genetics, facilitating the reconstruction of human settlement histories and serving forensic identification purposes.
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