Zeineb Bakey

Distinct effects of hypomorphic IFT and dynein-2 skeletal ciliopathy disease alleles on chondrogenic differentiation, ECM composition and wnt signalling in ATDC5 derived cartilage-like organoids

This study examines how hypomorphic IFT and dynein-2 mutations affect chondrogenic differentiation, ECM composition, and Wnt signaling in ATDC5 organoids, revealing genotype-dependent changes in signaling pathways and ECM.

A homozygous human WNT11 loss-of-function variant associated with laterality, heart and renal defects

The paper identifies a homozygous WNT11 variant causing laterality, heart, and renal defects in an infant and shows its loss-of-function in Xenopus embryos.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transport

Mutations in C11ORF70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defects