Fransiska Malfait

Gent, VLG, Belgium

Last Updated: 09/26/2026

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Found 130 publications

Next-Generation Sequencing and Variant Analysis of Fibrillar (Pro)Collagens.

Next-Generation Sequencing and Variant Analysis of Fibrillar (Pro)Collagens.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: September 02, 2026

Correction: The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.

Correction: The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.

Journal: Cell death discovery

Published: May 23, 2025

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

Journal: Scientific reports

Published: February 27, 2025

ADAMTS2: More than a procollagen N-proteinase.

ADAMTS2: More than a procollagen N-proteinase.

Journal: Genes & diseases

Published: August 02, 2024

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.

Journal: Cell death discovery

Published: July 02, 2024

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.

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.

Journal: Molecular pain

Published: May 16, 2024

Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes.

Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes.

Journal: Trends in molecular medicine

Published: February 14, 2024

B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.

B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.

Journal: JCI insight

Published: January 22, 2024

Flemish network on rare connective tissue diseases (CTD): patient pathways in systemic sclerosis. First steps taken.

Flemish network on rare connective tissue diseases (CTD): patient pathways in systemic sclerosis. First steps taken.

Journal: Acta clinica Belgica

Published: December 18, 2023

Impaired muscle parameters in adults with mild to severe types of osteogenesis imperfecta: a cross-sectional study.

Impaired muscle parameters in adults with mild to severe types of osteogenesis imperfecta: a cross-sectional study.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: August 07, 2023

Microvascular status and skin thickness in adults with hypermobile Ehlers-Danlos syndrome: a pilot investigation.

Microvascular status and skin thickness in adults with hypermobile Ehlers-Danlos syndrome: a pilot investigation.

Journal: Clinical and experimental rheumatology

Published: June 13, 2023

Analysis of matrisome expression patterns in murine and human dorsal root ganglia.

Analysis of matrisome expression patterns in murine and human dorsal root ganglia.

Journal: Frontiers in molecular neuroscience

Published: May 31, 2023

Showing 1-12 of 130

Last Updated: 09/26/2026