Mary Elizabeth Mathyer
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View article: A human mitofusin 2 mutation can cause mitophagic cardiomyopathy
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy Open
Cardiac muscle has the highest mitochondrial density of any human tissue, but mitochondrial dysfunction is not a recognized cause of isolated cardiomyopathy. Here, we determined that the rare mitofusin (MFN) 2 R400Q mutation is 15–20× over…
View article: Author response: A human mitofusin 2 mutation can cause mitophagic cardiomyopathy
Author response: A human mitofusin 2 mutation can cause mitophagic cardiomyopathy Open
Full text Figures and data Side by side Abstract Editor's evaluation eLife digest Introduction Results Discussion Materials and methods Data availability References Decision letter Author response Article and author information Abstract Ca…
View article: Involucrin Modulates Vitamin D Receptor Activity in the Epidermis
Involucrin Modulates Vitamin D Receptor Activity in the Epidermis Open
Terminally differentiated keratinocytes are critical for epidermal function and are surrounded by involucrin (IVL). Increased IVL expression is associated with a near-selective sweep in European populations compared with those in Africa. T…
View article: A human mitofusin 2 mutation causes mitophagic cardiomyopathy
A human mitofusin 2 mutation causes mitophagic cardiomyopathy Open
Cardiac muscle has the highest mitochondrial density of any human tissue, but mitochondrial dysfunction is not a recognized cause of isolated cardiomyopathy. Here, we determined that the rare mitofusin (MFN) 2 R400Q mutation is ~20x over-r…
View article: Elucidating Enhancer Function in Epidermal Development and Filaggrin Loss-of-Function Variants in African American Atopic Dermatitis
Elucidating Enhancer Function in Epidermal Development and Filaggrin Loss-of-Function Variants in African American Atopic Dermatitis Open
The epidermis is the outermost tissue of the skin and provides the body’s first line of defense against external assaults. The epidermis is primarily composed of keratinocytes that terminally differentiate and rise apically toward the surf…
View article: An enhancer:involucrin regulatory module impacts human skin barrier adaptation out-of-Africa and modifies atopic dermatitis risk
An enhancer:involucrin regulatory module impacts human skin barrier adaptation out-of-Africa and modifies atopic dermatitis risk Open
The genetic modules that contribute to human evolution are poorly understood. We identified positive selection for two independent involucrin ( IVL ) haplotypes in European (CEU) and Asian (JPT/CHB) populations for skin epidermis. CEU IVL …
View article: Major role of nitrite-oxidizing bacteria in dark ocean carbon fixation
Major role of nitrite-oxidizing bacteria in dark ocean carbon fixation Open
Dissolved inorganic carbon fixers revealed Most of the ocean is dark. Yet it is in this darkness, away from photosynthesizing sunlight, that most planetary carbon cycling occurs. Pachiadaki et al. show that nitrite-oxidizing bacteria in on…