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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.
Sci Rep
January 2025
Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China.
Autosomal dominant deafness-15 which is caused by mutation in the POU4F3 gene, has been reported with a wide degree of clinical heterogeneity, even between intrafamilial members. However, the reason is still elusive. In this study, A four-generation Chinese family with 11 patients manifesting late-onset progressive non-syndromic hearing loss was recruited.
View Article and Find Full Text PDFComparative diversification analyses of Hydrangeaceae and Loasaceae reveal complex evolutionary history as species disperse out of Mesoamerica.
Am J Bot
January 2025
School of Biological Sciences, Washington State University, Pullman, 99164, Washington, USA.
Article Synopsis
- The study explores how intercontinental movements of certain plant lineages (Hydrangeaceae and Loasaceae) may promote ecological opportunities and species diversity.
- Researchers reconstructed a phylogeny using molecular data and analyzed speciation rates, finding that while some clades showed increased diversification, it wasn't linked to new continental colonization.
- The findings suggest that climate change in the Miocene played a more significant role in species diversification rather than dispersal across continents, indicating that changes in habitats drove evolutionary changes instead of location shifts.
Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.
Diagnostics (Basel)
January 2025
Departamento de Medicina Genómica, Instituto Nacional de Rehabilitación, Calzada México-Xochimilco 289, Col. Arenal de Guadalupe, Ciudad de México 14389, Mexico.
Background/objectives: X-linked hypophosphataemic rickets (XLH) represents the most frequent type of rickets from genetic origin, it is caused by mutations on the gene. The main clinical manifestations are short stature and bone deformities. Phenotype variation is observed at the intrafamily and interfamily level.
View Article and Find Full Text PDFAicardi-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 PDFInternal consistency of the Mental Health Professional Culture Inventory: A pilot study in Romanian population.
Transl Neurosci
January 2024
Agency for Europe-Africa Scientific Cooperation, Luxembourg, Luxembourg.
The objective of this study (registered under number 2020 006) was to assess the internal consistency of the revised Mental Health Professional Culture Inventory (MHPCI) scale, which comprises 15 items, among mental health service workers in Romania. To examine the psychometric properties of the MHPCI questionnaire within the Romanian population, we employed two main methods: The partial credit model (PCM) and Exploratory factor analysis (EFA). A total of 94 individuals were interviewed, and among them, 71 provided complete responses to the questionnaire.
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