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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability.
Int Med Case Rep J
January 2025
Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.
Introduction: Levocarnitine is essential for brain functioning and fatty acid metabolism and stems largely from dietary sources. The Epsilon-Trimethyllysine Hydroxylase () gene encodes the enzyme N-Trimethyllysine hydroxylase (TMLH) which catalyses the first step in the biosynthesis of carnitine. Lack of TMLH enzyme activity is associated with developmental delay and autistic behaviours described as X-linked recessive autism, type 6 (OMIM#300872).
View Article and Find Full Text PDFNovel target and cofactor repertoire for the transcriptional regulator JTY_0672 from BCG.
Front Microbiol
January 2025
Weifang Key Laboratory of Respiratory Tract Pathogens and Drug Therapy, School of Life Sciences and Technology, Shandong Second Medical University, Weifang, China.
(Mtb) is the pathogenic agent of tuberculosis (TB). Intracellular survival plays a central role in the pathogenesis of Mtb in a manner that is dependent on an array of transcriptional regulators for Mtb. However, the functionality of JTY_0672, a member of the TetR family of transcriptional regulators, remains unknown.
View Article and Find Full Text PDFEculizumab treatment during pregnancy in a patient with AQP4-IgG-seropositive NMOSD: A case report.
Mult Scler
January 2025
Department of Translational Biomedicine and Neurosciences, University of Bari Aldo Moro, Bari, Italy.
Eculizumab proved a strong anti-inflammatory effect in neuromyelitis optica spectrum disorders (NMOSD), rare autoimmune diseases affecting the central nervous system in which aquaporin 4-immunoglobulin G (AQP4-IgG) is the main pathogenic antibody. Pregnancy in NMOSD patients is considered at high-risk for neurological and gynecological outcomes, requiring a careful consideration about treatment maintenance. In this case report, we describe a successful pregnancy, resulting in the birth of a healthy child, in a young woman with AQP4-IgG-seropositive NMOSD who was maintained on eculizumab during all pregnancy.
View Article and Find Full Text PDFThe mutational spectrum of NRAS gene discovers a novel frameshift mutation (E49R) in Saudi colorectal cancer patients.
Cancer Cell Int
January 2025
Institute of Genomic Medicine Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Colorectal cancer (CRC) is a major health problem the world face currently and one of the leading causes of death worldwide. CRC is genetically heterogeneous and multiple genetic aberrations may appear on course of the disease throughout patient's lifetime. Genetic biomarkers such as BRAF, KRAS, and NRAS may provide early precision treatment options that are crucial for patient survival and well-being.
View Article and Find Full Text PDFClinical and genetic spectrum of patients with IRF2BPL syndrome.
J Hum Genet
January 2025
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders.
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