Article

A truncating mutation of <i>Magel2</i> in the rat modelled for the study of Schaaf-Yang and Prader-Willi syndromes alters select behavioral and physiological outcomes

2022-08-10

Abstract excerpt

<h4>ABSTRACT</h4> Truncating mutations of the maternally imprinted, paternally expressed MAGEL2 gene are the predicted genetic cause of several rare neurodevelopmental disorders including Schaaf-Yang (SYS), Chitayat-Hall and Opitz Trigonocephaly C syndromes. MAGEL2 is also deleted or inactivated in Prader-Willi syndrome (PWS). Previous studies in mice have utilized Magel2 gene deletion models to examine the co...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a6b0535b-c7ff-58f7-a87b-9724fb1d1dc7
DOI: 10.1101/2022.08.09.503377

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A truncating mutation of <i>Magel2</i> in the rat modelled for the study of Schaaf-Yang and Prader-Willi syndromes alters select behavioral and physiological outcomesDOI 10.1101/2022.08.09.503377Read

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.Semantic proximity Read

In-depth behavioral characterization of a rat model of Schaaf-Yang syndromeSemantic proximity Read

Hormonal Imbalances in Prader–Willi and Schaaf–Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in MammalsSemantic proximity Read

Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.Semantic proximity Read

Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty.Semantic proximity Read

MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Semantic proximity Read

<i>Magel2</i> in hypothalamic POMC neurons influences the impact of stress on anxiety-like behavior and spatial learning associated with a food reward in male miceSemantic proximity Read

Prader Willi syndrome: advances in genetics.Semantic proximity Read

Schaaf‐Yang syndrome overview: Report of 78 individualsSemantic proximity Read

Muscle dysfunction caused by loss of<i>Magel2</i>in a mouse model of Prader-Willi and Schaaf-Yang syndromesSemantic proximity Read

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.Semantic proximity Read

Magel2 deficiency promotes cardiac remodeling and increases arrhythmogenic susceptibility in a mouse model relevant to Prader-Willi and Schaaf-Yang syndromes.Semantic proximity Read