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A unique case report on campylobacter rectus infection leading to acute motor axonal neuropathy in a pediatric patient.
Radiol Case Rep
March 2025
Department of Radiology, Imo State University, Imo State, Nigeria.
A unique case report on campylobacter rectus infection leading to acute motor axonal neuropathy in a pediatric patient. Campylobacter rectus is an anaerobic bacterium found in the oral cavity. While it has been linked to periodontal disease, its association with acute motor axonal neuropathy (AMAN), a variant of Guillain-Barre Syndrome, remains unverified.
View Article and Find Full Text PDFGenomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Am J Hum Genet
January 2025
Division of Biostatistics, Data Science Institute, Medical College of Wisconsin, Milwaukee, WI, USA; Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address:
Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer disease, solid tumors, and other age-related diseases. We sought to gain a better understanding of genetic drivers and associated phenotypes of mLOY through analyses of whole-genome sequencing (WGS) of a large set of genetically diverse males from the Trans-Omics for Precision Medicine (TOPMed) program.
View Article and Find Full Text PDFAssociation of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.
Int J Mol Sci
January 2025
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.
View Article and Find Full Text PDFDe novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports.
Medicine (Baltimore)
January 2025
Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, China.
Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.
View Article and Find Full Text PDFPrecise and Accurate DNA-3'/5-Ends Polishing with Phage vb_Tt72 DNA Polymerase.
Int J Mol Sci
December 2024
Laboratory of Extremophiles Biology, Department of Microbiology, Faculty of Biology, University of Gdansk, 80-308 Gdansk, Poland.
Tt72 DNA polymerase is a newly characterized PolA-type thermostable enzyme derived from the phage vB_Tt72. The enzyme demonstrates strong 3'→5' exonucleolytic proofreading activity, even in the presence of 1 mM dNTPs. In this study, we examined how the exonucleolytic activity of Tt72 DNA polymerase affects the fidelity of DNA synthesis.
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