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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Am J Hum Genet
January 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFUnraveling the Mysteries of Sleep: Exploring Phylogenomic Sleep Signals in the Recently Characterized Archaeal Phylum Lokiarchaeota near Loki's Castle.
Int J Mol Sci
December 2024
Department of Pharmacology, JSS College of Pharmacy, JSS Academy of Higher Education & Research, Mysuru 570015, Karnataka, India.
Sleep is a universally conserved behavior whose origin and evolutionary purpose are uncertain. Using phylogenomics, this article investigates the evolutionary foundations of sleep from a never before used perspective. More specifically, it identifies orthologs of human sleep-related genes in the Lokiarchaeota of the Asgard superphylum and examines their functional role.
View Article and Find Full Text PDFVaccination prior to SARS-CoV-2 infection does not affect the neurologic manifestations of long COVID.
Brain Commun
January 2025
Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Persistent symptoms after COVID-19 constitute the long COVID syndrome, also called post-acute sequelae of SARS-CoV-2 infection (PASC). COVID-19 vaccines reduce the gravity of ensuing SARS-CoV-2 infections. However, whether vaccines also have an impact on PASC remain unknown.
View Article and Find Full Text PDFThe promises and perils of circulating tumor DNA for monitoring immunotherapy response in non-small cell lung cancer.
Explor Target Antitumor Ther
November 2024
Division of Pulmonary, Critical Care, and Sleep Disorders Medicine, Department of Medicine, University of Louisville School of Medicine, Louisville, KY 40202, USA.
There has been a rapid expansion of immunotherapy options for non-small cell lung cancer (NSCLC) over the past two decades, particularly with the advent of immune checkpoint inhibitors. Despite the emerging role of immunotherapy in adjuvant and neoadjuvant settings though, relatively few patients will respond to immunotherapy which can be problematic due to expense and toxicity; thus, the development of biomarkers capable of predicting immunotherapeutic response is imperative. Due to the promise of a noninvasive, personalized approach capable of providing comprehensive, real-time monitoring of tumor heterogeneity and evolution, there has been wide interest in the concept of using circulating tumor DNA (ctDNA) to predict treatment response.
View Article and Find Full Text PDFArtificial intelligence in respiratory care.
Front Digit Health
December 2024
Faculty of Engineering and Computing, Liwa College, Abu Dhabi, United Arab Emirates.
The evolution of artificial intelligence (AI) has revolutionised numerous aspects of our daily lives, with profound implications across various sectors, including healthcare. Although the concept of AI in healthcare was introduced in the early 1970s, the integration of this technology in healthcare is still in the evolution phase. Despite barriers, the current decade is witnessing an increased utility of AI into diverse specialities of the medical field to enhance precision medicine, predict diagnosis, therapeutic results, and prognosis; this includes respiratory medicine, critical care, and in their allied specialties.
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