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Update on inborn errors of immunity.
J Allergy Clin Immunol
December 2024
Department of Immunology, School of Translational Medicine, Monash University, Melbourne, Victoria, Australia; Allergy, Asthma and Clinical Immunology, Alfred Health, Melbourne, Victoria, Australia; Jeffrey Modell Center, Melbourne, Victoria, Australia; Erasmus MC, University Medical Center, Department of Immunology, Rotterdam, the Netherlands. Electronic address:
Ever since the first description of an inherited immunodeficiency in 1952 in a boy with gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now referred to as inborn errors of immunity (IEI). In a field where fundamental molecular biology, genetics, immune signaling and clinical care are tightly intertwined, 2022-2024 saw a multitude of advances. Here we report a selection of research updates with a main focus on (1) diagnosis and screening, (2) new genetic defects, (3) susceptibility to severe COVID-19 infection and impact of vaccination, and (4) treatment.
View Article and Find Full Text PDFBREAST CANCER AND DIAGNOSTIC METHODS: UNDERSTANDING THE ROLE OF BRCA1 AND BRCA2.
Georgian Med News
October 2024
6Chitkara Centre for Research and Development, Chitkara University, Himachal Pradesh, India.
Breast cancer is a disease that has a 1 in 8 lifetime risk for women, making it an international burden. Although breast cancer mostly affects women, men have a lifetime risk of around 1 in 1000. The majority of breast cancer instances continue linked to breast cancers that have acquired somatic mutations during a person's lifespan.
View Article and Find Full Text PDFImpact of polygeNic risk score for glaucoma on psycHosocial ouTcomes (INSiGHT) study protocol.
PLoS One
December 2024
Department of Ophthalmology, Flinders Medical and Health Research Institute, Flinders University, Adelaide, SA, Australia.
Glaucoma is the leading cause of irreversible blindness with early detection and intervention critical to slowing disease progression. However, half of those affected are undiagnosed. This is largely due to the early stages of disease being asymptomatic; current population-based screening measures being unsupported; and a lack of current efficient prediction models.
View Article and Find Full Text PDFFaMMily Affairs: Dissecting inherited contributions to multiple myeloma risk.
Semin Hematol
November 2024
Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address:
Etiological links to multiple myeloma (MM) remain poorly understood, though emerging evidence suggests a significant hereditary component. This review integrates current literature on inherited factors contributing to MM risk, synthesizing both epidemiologic and genomic data. We examine familial clustering patterns, assess genome-wide association studies (GWAS) that reveal common genetic variants linked to MM, and explore rare, high-penetrance variants in key susceptibility genes.
View Article and Find Full Text PDFGenetic analysis of patients with low-frequency non-syndromic hearing loss.
Mol Genet Genomics
December 2024
ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
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