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Pitfalls and perils from FDA-approved germ-line cancer predisposition tests.
Oncotarget
December 2024
The FDA approval on September 29, 2023, for "class III " blood tests to assess hereditary cancer risk make widely available tests that may be obtained through a Direct to Consumer (DTC) path. There is concern that germ-line predisposition tests may not be reimbursed by insurance adding financial burdens to individuals and families. It is generally agreed in the fields of oncology and genetics that germ-line testing for disease susceptibility including cancer is best performed under care of a healthcare provider with genetic counseling.
View Article and Find Full Text PDFDietary Modulation of the Immune System.
Nutrients
December 2024
Universidad Autónoma de Nuevo León, Facultad de Salud Pública y Nutrición, Centro de Investigación en Nutrición y Salud Pública, Monterrey 64460, México.
Recent insights into the influence of nutrition on immune system components have driven the development of dietary strategies targeting the prevention and management of major metabolic-inflammatory diseases. This review summarizes the bidirectional relationship between nutrition and immunocompetence, beginning with an overview of immune system components and their functions. It examines the effects of nutritional status, dietary patterns, and food bioactives on systemic inflammation, immune cell populations, and lymphoid tissues, as well as their associations with infectious and chronic disease pathogenesis.
View Article and Find Full Text PDFTwo novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.
J Neurol
December 2024
Department of Neurology and Alzheimer Centre, Erasmus MC University Medical Centre (Erasmus MC), Dr. Molenwaterplein 40, 3015 CE, Rotterdam, The Netherlands.
Background: Frontotemporal lobar degeneration (FTLD) is one of the leading causes of early onset dementia. Pathogenic variants in GRN have been reported to cause 5-25% of familial and 5% of sporadic FTLD. Here, we present two novel, likely pathogenic variants in GRN.
View Article and Find Full Text PDFA comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.
Hum Reprod Open
November 2024
Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.
Study Question: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?
Summary Answer: Our findings revealed a significant association between SPGF and the gene and identified three novel genes (, , and ) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.
What Is Known Already: SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial causes, including both common genetic variants in multiple genes and environmental factors, or highly damaging rare variants.
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