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Digenic inheritance of severe insulin resistance in a human pedigree

David B. Savage
Maura Agostini
Alan J. Schafer
Research15 Jul 2002
Nature Genetics

Volume: 31, P: 379-384
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

Aortic aneurysms have a heritable basis. Here, the authors report that a selenoprotein deficiency disorder due to mutations in SECISBP2, causes oxidative stress-mediated aortic cell death, predisposing to thoracic aortic aneurysm formation.

Erik Schoenmakers
Federica Marelli
Krishna Chatterjee
ResearchOpen Access02 Dec 2023
Nature Communications

Volume: 14, P: 1-14
Prospective functional classification of all possible missense variants in PPARG

Amit Majithia and colleagues employ a pooled assay in human macrophages to assess the functional effects of all possible missense variants in PPARG. Their study shows the value of saturation mutagenesis and prospective experimental characterization to support diagnostic interpretation of newly discovered missense variants in disease-related genes.

Amit R Majithia
Ben Tsuda
David Altshuler
Research17 Oct 2016
Nature Genetics

Volume: 48, P: 1570-1575
Lives versus Livelihoods? Perceived economic risk has a stronger association with support for COVID-19 preventive measures than perceived health risk

Claudia F. Nisa
Jocelyn J. Bélanger
N. Pontus Leander
ResearchOpen Access06 May 2021
Scientific Reports

Volume: 11, P: 1-12
Harnessing the reverse cholesterol transport pathway to favor differentiation of monocyte-derived APCs and antitumor responses

Laura Raccosta
Maura Marinozzi
Vincenzo Russo
ResearchOpen Access15 Feb 2023
Cell Death & Disease

Volume: 14, P: 1-21

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Digenic inheritance of severe insulin resistance in a human pedigree

Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

Prospective functional classification of all possible missense variants in PPARG

Lives versus Livelihoods? Perceived economic risk has a stronger association with support for COVID-19 preventive measures than perceived health risk

Harnessing the reverse cholesterol transport pathway to favor differentiation of monocyte-derived APCs and antitumor responses

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