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Bart Broeckx on Muck Rack

Bart Broeckx

As seen in: Nature
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Articles

A homozygous hypomorphic FBN1 splice region variant in domestic cats with Marfan syndrome

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By Shawna R Cook, Jessica J. Hayward, Soon Hon Cheong, Ian Porter, Urs Giger, Philip Fox, Jacquelyn M. Evans, Bart Broeckx, Linda Impe, Brian Lamendola, Gavin R. Hitchener
| Nature Verified
Abstract Marfan syndrome (MFS) is an autosomal dominant connective tissue disease caused by variants in the fibrillin 1 (FBN1) gene. While common in humans, spontaneous animal models are rarely reported. We present the first phenotypic and molecular characterization of MFS in domestic cats. A pair of random-bred littermates exhibited bilateral lens luxation and aortic root dilation, the cardinal features of MFS, as well as long limbs.
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Lack of Ubiquitin Specific Protease 8 (USP8) Mutations in Canine Corticotroph Pituitary Adenomas

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By Silviu Sbiera, Marianna A. Tryfonidou, Isabel Weigand, Bart Broeckx
| PLOS
Cushing’s disease (CD), also known as pituitary-dependent hyperadrenocorticism, is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary tumours. Affected humans and dogs have similar clinical manifestations, however, the incidence of the canine disease is thousand-fold higher. This makes the dog an obvious model for studying the pathogenesis of pituitary-dependent hyperadrenocorticism.
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