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Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2.
Hum Genomics
January 2025
Department of Biology, Tor Vergata University of Rome, Via della Ricerca Scientifica 1, 00133, Rome, Italy.
Background: The Immunoglobulin Heavy Chain (IGH) genomic region is responsible for the production of circulating antibodies and warrants careful investigation for its association with COVID-19 characteristics. Multiple allelic variants within and across different IGH gene segments form a limited set of haplotypes. Previous studies have shown associations between some of these haplotypes and clinical outcomes of COVID-19.
View Article and Find Full Text PDFMulti-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis.
J Transl Med
January 2025
Beijing Institute of Brain Disorders, Laboratory of Brain Disorders, Ministry of Science and Technology, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China.
Background: Psoriasis is a common chronic, recurrent, immune-mediated disease involved in the skin or joints or both. However, deeper insight into the genetic susceptibility of psoriasis is still unclear.
Methods: Here we performed the largest multi-ancestry meta-analysis of genome-wide association study including 28,869 psoriasis cases and 443,950 healthy controls.
Clinical integration of germline findings from a tumor testing precision medicine program.
BMC Cancer
January 2025
Department of Medicine, Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, ON, Canada.
Background: Integrating germline genetic testing (GGT) recommendations from tumor testing into hereditary cancer clinics and precision oncology trials presents challenges that require multidisciplinary expertise and infrastructure. While there have been advancements in standardizing molecular tumor boards, the implementation of tumor profiling for germline-focused assessments has only recently gained momentum. However, this progress remains inconsistent across institutions, largely owing to a lack of systematic approaches for managing these findings.
View Article and Find Full Text PDFIdentifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics
January 2025
Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Background: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.
Methods: A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies.
Distinct Circle of Willis anatomical configurations in healthy preterm born adults: a 3D time-of-flight magnetic resonance angiography study.
BMC Med Imaging
January 2025
Oxford Cardiovascular Clinical Research Facility, Division of Cardiovascular Medicine, Radcliffe Department of Medicine, Level 1, Oxford Heart Centre, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, UK.
Background: Preterm birth (< 37 weeks' gestation) alters cerebrovascular development due to the premature transition from a foetal to postnatal circulatory system, with potential implications for future cerebrovascular health. This study aims to explore potential differences in the Circle of Willis (CoW), a key arterial ring that perfuses the brain, of healthy adults born preterm.
Methods: A total of 255 participants (108 preterm, 147 full-term) were included in the analysis.
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