Esther M. Verheyen

The abnormal C-terminus in DVL1 impacts Robinow Syndrome phenotypes

This study shows that a truncated C-terminus in DVL1 causes Robinow Syndrome by disrupting WNT signaling and morphogenesis in animal models.

Uncovering functional insights into human pathogenic variants in CDK19 using Drosophila models

The paper evaluates two CDK19 variants in Drosophila models to determine their functional impact and therapeutic potential.

A Novel Drosophila Model of Cancer Cachexia Reveals Conserved Jak/Stat Dependent Glucagon-like Akh Activation as a Driver of Metabolic Reprogramming and Systemic Wasting

This study establishes a Drosophila model of cancer cachexia and identifies a conserved Jak/Stat-Akh signaling pathway driving metabolic reprogramming and systemic wasting.

Robinow Syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

This study investigates the effects of a DVL1 variant in a Drosophila model of Robinow Syndrome, showing disrupted morphogenesis and appendage formation with increased cell death and basement membrane changes.

DVL1 variants and C-terminal deletions have differential effects on craniofacial development and WNT signaling

The paper investigates the functional effects of DVL1 variants on craniofacial development and WNT signaling in chicken embryos, showing that C-terminal deletions cause developmental defects and impair both canonical and non-canonical WNT pathways.

Craniofacial studies in chicken embryos confirm the pathogenicity of Frizzled2 variants associated with Robinow syndrome

The paper tests two FZD2 variants linked to Robinow syndrome in chicken embryos, showing increased facial width and altered WNT signaling.

Functional characterization of human Homeodomain-interacting protein kinases (HIPKs) in Drosophila melanogaster reveal both conserved functions and differential induction of HOX gene expression

The paper uses Drosophila to study human HIPKs, finding that hHIPK1 and hHIPK2 can rescue lethality, while hHIPK3 and hHIPK4 only rescue minor defects, and that HIPKs inhibit Polycomb-group complex activity.

Homeodomain-interacting protein kinase (Hipk) is required for nervous system and muscle structure and function

This study investigates the role of Hipk in Drosophila nervous system and muscle function, showing its critical impact on neuronal and glial cell function, neuromuscular junction structure, and motor neuron health.

The Protein Phosphatase 4 complex promotes the Notchpathway and wingless transcription

The paper identifies PP4's role in promoting Notch signaling and Wingless ligand transcription during Drosophila wing development.