Søren T. Christensen

This study identifies INPP5E interactors involved in growth factor signaling, revealing its role in regulating ciliary pathways in fibroblasts.

The paper identifies glucagon receptor localization in brain cilia and tanycytes in rats, suggesting a role in integrating metabolic signals with central homeostasis.

The paper identifies TAK1's role in heart development through genetic analysis and shows its activation at the primary cilium via TGFB/BMP signaling.

This study identifies a U-box-like domain in IFT172 that mediates ciliary signaling and protein stability, linking it to ciliopathy pathogenesis.

This study evaluates an mRNA therapy for DNAI1-related PCD using patient-derived nasal spheroids, showing increased ciliary function and spheroid motility after treatment.

This study shows that BBS1 and BBS4 deficiencies disrupt receptor endocytosis and alter TGF-β signaling, leading to EMT and affecting autophagy in retinal epithelial cells.

The paper identifies rare homozygous variants in cilia genes associated with congenital heart defects in consanguineous Pakistani patients.

This study shows DLG1 regulates ciliary protein trafficking in kidney cells, with loss of DLG1 causing ciliary elongation and cysts, and a specific DLG1 variant linked to kidney disease.

This study investigates genetic variants in hydrocephalus patients and finds associations with ciliopathies and autism spectrum disorder using the iPSYCH cohort.

The paper identifies a loss-of-function GFAP variant causing retinal dysplasia and vision impairment in a family, revealing a novel role for GFAP in eye development.

This study identifies a mutation in RRP7A linked to primary microcephaly, showing its role in neurogenesis, ribosomal biogenesis, and ciliary resorption in neural stem cells.