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http://dx.doi.org/10.30699/ijp.2024.2025376.3278 | DOI Listing |
Circ Rep
March 2025
Department of Vascular Physiology, National Cerebral and Cardiovascular Center Research Institute Osaka Japan.
Background: Because Regnase-1, encoded by , suppresses the development of pulmonary arterial hypertension (PAH) by controlling pro-inflammatory cytokines, we aimed to identify variants in patients with PAH.
Methods And Results: We analyzed whole-genome sequence data of patients with PAH to search for disease-associated variants. The Regnase-1 p.
J Pharm Bioallied Sci
December 2024
Department of Pediatric, Children Hospital, Taif, Saudi Arabia.
Manganese-induced neurological disorder (HMNDYT1) is a rare condition characterized by the accumulation of manganese in the brain, leading to neurological symptoms such as difficulties in walking. This disorder arises due to genetic mutations affecting manganese transport and metabolism. Presented is the case of a 5-year-9-month-old female from the south region, evaluated for walking difficulties.
View Article and Find Full Text PDFIran J Pathol
January 2025
Molecular Genetic Pathology Lab, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
J Hum Genet
March 2025
Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
AKT3, a key component of the PI3K-AKT-MTOR pathway, is highly expressed in the brain, and its activating variants cause megalencephaly and cortical malformations. In this study, we functionally verified a novel missense AKT3 variant (p.Q78R) identified in a patient with extreme megalencephaly and intractable epilepsy.
View Article and Find Full Text PDFEur J Med Res
March 2025
Department of Neurology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, 450003, Henan, China.
Background/purpose: GRN mutations act as causative factors in patients with FTD clinical phenotype or FTD pathology and exhibit high clinical heterogeneity. The discovery of these mutations and the analysis of their associations with resembling Alzheimer's disease should be critical to understand the pathogenesis of FTD.
Methods: Clinical analysis, neuroimaging, target region capture and high-throughput sequencing were performed in a family of 3 generations.
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