Articles with "rbg" as a keyword



How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study

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Published in 2024 at "Journal of Community Genetics"

DOI: 10.1007/s12687-024-00733-8

Abstract: Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call for defined best practices for disclosure… read more here.

Keywords: study; approach; recall genotype; research ... See more keywords

The RBG-1–RBG-2 complex modulates autophagy activity by regulating lysosomal biogenesis and function in C. elegans

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Published in 2019 at "Journal of Cell Science"

DOI: 10.1242/jcs.234195

Abstract: ABSTRACT Vici syndrome is a severe and progressive multisystem disease caused by mutations in the EPG5 gene. In patient tissues and animal models, loss of EPG5 function is associated with defective autophagy caused by accumulation… read more here.

Keywords: rbg; rbg rbg; rbg complex; function ... See more keywords

Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.936131

Abstract: Recall-by-genotype (RbG) studies conducted with population-based biobank data remain urgently needed, and follow-up RbG studies, which add substance to this research approach, remain solitary. In such studies, potentially disease-related genotypes are identified and individuals with… read more here.

Keywords: long term; research; rbg; term follow ... See more keywords