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Hereditary non-spherocytic hemolytic anemia with GPI mutations successfully treated with allogeneic hematopoietic stem cell transplantation: a first report of two cases.
J Mol Med (Berl)
January 2025
Department of Hematology and Oncology, Children's Hospital of Nanjing Medical University, 72 Guangzhou Road, Nanjing, 210008, Jiangsu Province, China.
Glucose phosphate isomerase (GPI) deficiency caused by GPI gene mutations is a rare heterogenous condition that causes hereditary non-spherocytic hemolytic anemia (HNSHA). Patients who suffer from severe anemia may need more effective treatment. Here, clinical data and genetic testing results of two cases of HNSHA with GPI mutations treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT) were retrospectively analyzed.
View Article and Find Full Text PDFClinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype-Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant.
Mol Genet Genomic Med
January 2025
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: X-linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID. This study aimed to identify novel variants associated with XLID and to investigate the clinical and genetic characteristics of XLID patients with mutations in the KDM5C gene.
View Article and Find Full Text PDFInsights into host-pathogen interaction based on the comparison of genomes of isolated from dogs, humans, and a rodent in the same epidemiological context: A one health approach.
Heliyon
January 2025
Bacterial Disease Laboratory, Postgraduate Program in Animal Science in Tropics - Federal University of Bahia, Salvador, Bahia, Brazil.
Leptospirosis is a zoonotic infectious disease that significantly impacts animal and public health. Comparative genomics can aid in understanding poorly understood aspects of leptospirosis pathogenesis, including infection mechanisms, antimicrobial resistance, and host interactions across different epidemiological scenarios. This study aimed to compare the genomes of serogroup Icterohaemorrhagiae strains isolated from three host species in a single epidemiological scenario.
View Article and Find Full Text PDFAn ensemble machine learning-based performance evaluation identifies top In-Silico pathogenicity prediction methods that best classify driver mutations in cancer.
BioData Min
January 2025
Biotechnology Research and Innovation Council-National Institute of Biomedical Genomics (BRIC-NIBMG), National Institute of Biomedical Genomics, Kalyani, West Bengal, India.
Background And Objective: Accurate identification and prioritization of driver-mutations in cancer is critical for effective patient management. Despite the presence of numerous bioinformatic algorithms for estimating mutation pathogenicity, there is significant variation in their assessments. This inconsistency is evident even for well-established cancer driver mutations.
View Article and Find Full Text PDFFirst case report of effective and safe application of cannabidiol to treat concurrent ALG3-CDG and Lennox-Gastaut Syndrome.
Neurol Sci
January 2025
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul, 135-720, Korea.
This study presents the first reported case of a Korean patient with Alpha-1,3-Mannosyltransferase-Congenital Disorder of Glycosylation (ALG3-CDG), characterized by a novel maternally inherited missense mutation and a previously reported paternally inherited nonsense mutation. The patient exhibited typical ALG3-CDG manifestations, including developmental delays, epilepsy, and multisystem involvement, alongside a diagnosis of Lennox-Gastaut Syndrome (LGS). Cannabidiol therapy, combined with dietary management, led to seizure freedom for over 13 months, significant EEG improvement, and enhanced developmental outcomes.
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