Josseline Kaplan

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

Modeling the critical MCOR-causing deletion in mouse unveils aberrant Sox21 expression in developing and adult iris and ciliary body, and implicates Tgfb2 in MCOR-associated glaucoma and myopia.

The paper models a critical MCOR-causing deletion in mice, revealing aberrant Sox21 expression and implicating Tgfb2 in MCOR-associated glaucoma and myopia.

Pharmacological cAMP stimulation via prostaglandin receptors rescues ciliary defects in CEP290-deficient patient and mouse models

This study shows that Taprenepag, a PGE2 receptor agonist, improves cilia formation and light sensitivity in CEP290-deficient models by stimulating cAMP synthesis.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.

Dopachrome tautomerase variants in patients with oculocutaneous albinism.

The paper identifies DCT gene variants in two patients with oculocutaneous albinism, demonstrating their association with hypopigmentation and proposing a new subtype, OCA8.