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Genetic variations underlying aminoglycoside resistance in antibiotic-induced Mycobacterium intracellulare mutants.
Infect Genet Evol
January 2025
Department of Microbiology, College of Medicine, Gyeongsang National University, Jinju, Republic of Korea; Department of Convergence of Medical Science, Gyeongsang National University, Jinju, Republic of Korea. Electronic address:
Mycobacterium avium complex (MAC) is an emerging pathogen leading to public health concerns in developing and developed countries, particularly among immunocompromised individuals and patients with structural lung diseases. Current clinical guidelines recommend combination antibiotic therapy for treating MAC pulmonary disease (MAC-PD). However, the rising prevalence of antibiotic resistance poses significant challenges, including treatment failure and clinical recurrence.
View Article and Find Full Text PDF-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.
J Med Genet
January 2025
Department of Pediatrics, NHO Beppu Medical Center, Beppu, Oita, Japan
Introduction: Genotype-phenotype correlations in -related neurodevelopmental disorders (-NDDs) remain unclear. This systematic review aimed to clarify these correlations.
Methods: Searches of PubMed and Embase were conducted on 8 August 2024 to identify studies that had investigated genetically diagnosed NDDs (5q31.
A novel in-frame deletion flanking exon 54 of the FBN1 gene in a Japanese girl with Marfan syndrome.
Pediatr Int
January 2025
Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.
A first-in-human clinical study of an allogenic iPSC-derived corneal endothelial cell substitute transplantation for bullous keratopathy.
Cell Rep Med
December 2024
Department of Ophthalmology, Keio University School of Medicine, Shinjuku-ku 160-8582, Tokyo, Japan; Department of Clinical Regenerative Medicine, Fujita Medical Innovation Center, Fujita Health University, Ota-ku, Tokyo 144-0041, Japan. Electronic address:
A first-in-human investigator-initiated clinical study of a corneal endothelial cell substitute (CLS001) derived from a clinical-grade induced pluripotent stem cell (iPSC) line shows improvement of visual acuity and corneal stromal edema, with no adverse events for up to 1 year after surgery for the treatment of bullous keratopathy. While preclinical tests, including multiple whole-genome analysis and tumorigenicity tests adhering to the Food and Drug Administration (FDA) draft guidelines, are negative, an additional whole-genome analysis conducted on transplanted CLS001 cells reveals a de novo in-frame deletion of exon22 in the EP300 gene. No adverse events related to the mutation are observed.
View Article and Find Full Text PDFTranscription factor FOXD1 and miRNA-204-5p play a major role in B4GALNT2 downregulation in colon cancer.
Sci Rep
January 2025
Department of Medical and Surgical Sciences (DIMEC), General Pathology Building, University of Bologna, Bologna, Italy.
The β1,4-N-acetylgalactosaminyltransferase 2 (B4GALNT2) which synthesizes the histo-blood group antigen Sd is highly expressed by normal colon, but it is dramatically down-regulated in colorectal cancer (CRC). High B4GALNT2 expression in CRC tissues is a marker of longer survival. The molecular bases of B4GALNT2 inhibition in CRC are largely obscure.
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