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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Sci Immunol
January 2025
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.
View Article and Find Full Text PDFCIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Am J Hum Genet
December 2024
Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A(∗)STAR, Singapore, Singapore; Laboratory of Human Genetics & Therapeutics, BESE, KAUST, Thuwal, Saudi Arabia; Department of Physiology, Cardiovascular Disease Translational Research Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. Electronic address:
Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.
View Article and Find Full Text PDFThe anticancer activity of fucoidan coated selenium nanoparticles and curcumin nanoparticles against colorectal cancer lines.
Sci Rep
January 2025
Department of Fish Processing and Biotechnology, Faculty of Aquatic and Fisheries Sciences, Kafrelsheikh University, Kafrelsheikh, 33516, Egypt.
Cancers still globally endanger millions of people yearly; the incidences/mortalities of colorectal cancers are particularly increasing. The natural nanoparticles (NPs) and marine biopolymers were anticipated to provide effectual safe significances for managing cancers. The transformation of curcumin to nano-curcumin (NCur) was conducted with gum Arabic.
View Article and Find Full Text PDFMedial Meniscus Ramp Tears: State of the Art.
J ISAKOS
December 2024
Twin Cities Orthopedics, Edina, Minnesota, USA. Electronic address:
Medial meniscus ramp tears are tears of the posteromedial capsule or peripheral rim of the posteromedial meniscus that frequently occur with anterior cruciate ligament (ACL) tears. The incidence and prevalence of medial meniscus ramp tears has been increasing in the recent literature due to the increased understanding of the anatomy and diagnosis of these tears. When a patient presents with an ACL tear, a medial meniscus ramp tear should be suspected if the patient has a grade 3+ Lachman or pivot shift exam, a vertical line of increased signal intensity in the posterior capsule or peripheral meniscus on magnetic resonance imagining (MRI), or posteromedial tibial plateau bone bruising on MRI.
View Article and Find Full Text PDFActivity Space Mapping and Pre-Exposure Prophylaxis Uptake Among Gay, Bisexual, and Other Sexual Minority Men in Small Cities and Towns in the United States.
AIDS Behav
January 2025
Department of Social and Behavioral Sciences, Yale School of Public Health, 60 College Street, New Haven, CT, 06510, USA.
In the US, gay, bisexual, and other sexual minoritized men (GBSMM) remain disproportionately impacted by HIV, and continue to experience unmet needs for pre-exposure prophylaxis (PrEP). A growing body of literature has underscored the need to consider the geographic factors of HIV prevention, particularly beyond administrative boundaries and towards localized spaces that influence the accessibility and utilization of health-promoting resources. Therefore, the purpose of this study is to examine the associations of driving times from activity spaces to PrEP offering facilities and individual PrEP uptake.
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