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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Conference Paper
- C3
- open access
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Conference Paper
- C3
- open access
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41 -
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)
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- Book Chapter
- open access
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
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- Journal Article
- A1
- open access
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
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Exploring cutis laxa syndromes in vitro and in vivo through zebrafish modeling : lessons learnt from recently and newly discovered disease-causing genes
(2021) -
- Journal Article
- A1
- open access
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome
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Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis
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Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis.
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Transcriptome and protein analysis highlight the endosomal pathway in disease pathogenesis of metabolic CL syndrome
(2019) -
- Journal Article
- A1
- open access
Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature
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A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
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ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
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A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome