Project: An integrated translational platform to improve the management and outcome of rare heritable connective tissue disease
2021-01-01 – 2025-12-31
- Abstract
This interdisciplinary project aims to improve the outcome of heritable connective tissue disease. Using deep phenotyping techniques in combination with advanced genetic analysis, both in the clinic and in animal models, we expect to uncover molecular mechanisms which will inform better disease management strategies. In parallel, we aim to identify novel therapeutic targets using unbiased phenotypic screening in zebrafish models.
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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease
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Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish
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- Journal Article
- A1
- open access
Modeling thoracic aortic genetic variants in the zebrafish : useful for predicting clinical pathogenicity?
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- Journal Article
- A1
- open access
Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review
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Rapidly progressive peripheral artery disease : importance of oligogenic inheritance and functional validation
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Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
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- Journal Article
- A1
- open access
Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes
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- Journal Article
- A1
- open access
Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model
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- Journal Article
- A1
- open access
A systematic review and cross-database analysis of single nucleotide polymorphisms underlying hip morphology and osteoarthritis reveals shared mechanisms
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- Journal Article
- A1
- open access
Reduced capsaicin-induced mechanical allodynia and neuronal responses in the dorsal root ganglion in the presence of protein tyrosine phosphatase non-receptor type 6 overexpression