# First person – Eleanor McKay

PMC · DOI: 10.1242/dmm.050839 · Disease Models & Mechanisms · 2024-06-28

## TL;DR

Eleanor McKay discusses her research on Alms1-deficient mice and their relevance to Alström syndrome cardiomyopathy.

## Contribution

The study identifies specific cardiomyopathy features in female Alms1-deficient mice resembling adult Alström syndrome.

## Key findings

- Female Alms1-deficient mice show echocardiographic features of adult Alström syndrome cardiomyopathy.
- The mice do not exhibit features of infantile Alström syndrome cardiomyopathy.
- Eleanor's work contributes to understanding the disease's progression and sex-specific differences.

## Abstract

First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping researchers promote themselves alongside their papers. Eleanor McKay is first author on ‘
Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy’, published in DMM. Eleanor conducted the research described in this article while a PhD Student in Robert Semple's lab at the Centre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh, Edinburgh, UK. She is now a Postdoctoral Researcher in the lab of Stephan Kellenberger at University of Lausanne, Lausanne, Switzerland, investigating metabolism and related human diseases.

## Linked entities

- **Genes:** ALMS1 (ALMS1 centrosome and basal body associated protein) [NCBI Gene 7840]
- **Diseases:** Alström syndrome (MONDO:0008763), cardiomyopathy (MONDO:0004994)
- **Species:** Mus musculus (taxon 10090)

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC11225582/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11225582/full.md

## References

1 references — full list in the complete paper: https://tomesphere.com/paper/PMC11225582/full.md

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Source: https://tomesphere.com/paper/PMC11225582