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The Effect of Genotype Differences on Cardiac Involvement in Cases Diagnosed with Duchenne Muscular Dystrophy.
Neuropediatrics
January 2025
Department of Pediatric Cardiology, University of Health Sciences, Tepecik Training and Research Hospital, Izmir, Turkey.
Aim: Duchenne muscular dystrophy (DMD) is the most frequently seen muscular disease in childhood. Cardiac involvement is extremely important in terms of morbidity and mortality in these patients. Different studies have shown that mutations occurring in various exons are cardioprotective or increase cardiac involvement in DMD cases.
View Article and Find Full Text PDFA Humanized Monoclonal Antibody Against CD300A Ameliorates Acute Ischemic Stroke in Humanized Mice.
Monoclon Antib Immunodiagn Immunother
January 2025
Department of Immunology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.
CD300a and CD300A, among the CD300 immunoglobulin (Ig)-like receptor family members in mice and humans, respectively, are expressed on myeloid cell lineage. The interaction of CD300a and CD300A with their ligands phosphatidylserine and phosphatidylethanolamine, respectively, exposed on the plasma membrane of dead cells mediate an inhibitory signal in myeloid cells. We previously reported that a neutralizing antimouse CD300a monoclonal antibody (mAb) enhanced efferocytosis by macrophages and ameliorated acute ischemic stroke (AIS) in mice.
View Article and Find Full Text PDFUbiquitin-Associated Protein 1 (UBAP1) Gene Mutation in a 36-Year-Old Filipino Male With Spastic Paraplegia: A Case Report.
Cureus
January 2025
Department of Internal Medicine, Section of Neurology, Chong Hua Hospital, Cebu, PHL.
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease caused by retrograde degeneration of the corticospinal tract and posterior columns, which presents with progressive bilateral leg weakness and spasticity. HSP is inherited in an autosomal dominant pattern involving over 80 causative genes. The recently identified causative gene is the ubiquitin-associated protein 1 ()gene, which is associated with juvenile-onset pure spastic paraplegia-80 (SPG80).
View Article and Find Full Text PDFKNG1 mutations (c.618 T > G and c.1165C > T) cause disruption of the Cys206-Cys218 disulfide bond and truncation of the D5 domain leading to hereditary high molecular weight kininogen deficiency.
Clin Biochem
January 2025
Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi, China; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China; Key Laboratory of Hematology, Guangxi Medical University, Education Department of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China. Electronic address:
Background: High molecular weight kininogen (HMWK), encoded by the kininogen-1 (KNG1) gene, is a multifunctional glycoprotein closely associated with the initiation of blood coagulation, tumor growth, and other pathological processes.
Objective: We conducted a study on the clinical phenotype, genetic mutations, and molecular pathogenesis of a female patient with uterine leiomyosarcoma, who presented with HMWK deficiency and an isolated prolonged activated partial thromboplastin time (APTT).
Methods: Clinical phenotyping was conducted through APTT mixing studies, quantitative assessments of intrinsic coagulation factor activities, antigen levels of HMWK, and thromboelastography.
Comparative genomics analysis of the reason for C heavy-ion irradiation in improving FeO nanoparticle yield of Acidithiobacillus ferrooxidans.
Ecotoxicol Environ Saf
January 2025
Heilongjiang Provincial Key Laboratory of Environmental Microbiology and Recycling of Argo-Waste in Cold Region, College of Life Science and Biotechnology, Heilongjiang Bayi Agricultural University, Daqing, Heilongjiang 163319, China; Key Laboratory of Low‑carbon Green Agriculture in Northeastern China, Ministry of Agriculture and Rural Affairs P. R. China, College of Life Science and Biotechnology, Heilongjiang Bayi Agricultural University, Daqing, Heilongjiang 163319, China; Engineering Research Center of Processing and Utilization of Grain By-products, Ministry of Education, Heilongjiang Bayi Agricultural University, Daqing, Heilongjiang 163319, China. Electronic address:
The FeO nanoparticle synthesized by Acidithiobacillus ferrooxidans have a broad practical value, while the low yield limits their commercial application. Herein, we employed a C heavy-ion beam to induce mutagenesis of A. ferrooxidans BYM and successfully screened a mutant BYMT-200 with a 1.
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