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Estimating the Genetic Risk of First-Degree Relatives for Chronic Diseases Using the Short Tandem Repeat Score as Model of Polygenic Inheritance.
Biochem Genet
December 2024
College of Medical Laboratory, Dalian Medical University, Dalian, 116044, People's Republic of China.
This study aims to establish a genetic risk assessment model based on a score of short tandem repeats (STRs) of polygenic inheritance. A total of 396 children and their biological parents were collected for STR genotyping. The numbers of tandem repeats of two alleles in one STR locus were assumed to be a quantitative genetic strength for disease incidence.
View Article and Find Full Text PDFHyperreactive B cells instruct their elimination by T cells to curb autoinflammation and lymphomagenesis.
Immunity
December 2024
Institute of Experimental Hematology, School of Medicine, Technical University of Munich, 81675 Munich, Germany; Center for Translational Cancer Research (TranslaTUM), School of Medicine, Technical University of Munich, 81675 Munich, Germany; German Cancer Consortium (DKTK), 69120 Heidelberg, Germany; Max-Planck Institute of Biochemistry, 82152 Planegg, Germany. Electronic address:
B cell immunity carries the inherent risk of deviating into autoimmunity and malignancy, which are both strongly associated with genetic variants or alterations that increase immune signaling. Here, we investigated the interplay of autoimmunity and lymphoma risk factors centered around the archetypal negative immune regulator TNFAIP3/A20 in mice. Counterintuitively, B cells with moderately elevated sensitivity to stimulation caused fatal autoimmune pathology, while those with high sensitivity did not.
View Article and Find Full Text PDFThe Monogenic Landscape of Human Infectious Diseases.
J Allergy Clin Immunol
December 2024
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France; Paris Cité University, Imagine Institute, Paris, France. Electronic address:
The spectrum of known monogenic inborn errors of immunity is growing, with certain disorder underlying a specific and narrow range of infectious diseases. These disorders reveal the core mechanisms by which these infections occur in various settings, including inherited and acquired immunodeficiencies, thereby delineating the essential mechanisms of protective immunity to the corresponding pathogens. These findings also have medical implications, facilitating diagnosis and improving the management of individuals at risk of disease.
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 PDFDissection of RET p.M918T-driven progression of hereditary vs. sporadic medullary thyroid cancer.
Eur J Surg Oncol
December 2024
Medical Faculty, Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, D-06097, Halle (Saale), Germany; Department of General, Visceral and Transplantation Surgery, Division of Endocrine Surgery, University of Duisburg-Essen, D-45122, Essen, Germany.
Background: Whether inherited in the context of multiple endocrine neoplasia 2B at germline level or acquired in a lifetime, all RET p.M918T (RET c.2753T>C) mutations should activate the RET tyrosine kinase receptor alike, with similar degrees of medullary thyroid cancer (MTC) progression when disparities in disease onset and multifocal growth are accounted for.
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