Carolina R. Jost
Leiden, ZH, Netherlands
Last Updated: 09/26/2026
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Found 20 publications
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 18, 2023
CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
Journal: Stem cell reports
Published: December 22, 2021
High-impact FN1 mutation decreases chondrogenic potential and affects cartilage deposition via decreased binding to collagen type II.
Journal: Science advances
Published: November 05, 2021
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Journal: Neuropathology and applied neurobiology
Published: April 20, 2021
Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb1.
Journal: International journal of molecular sciences
Published: February 25, 2021
Doublecortin-like expressing astrocytes of the suprachiasmatic nucleus are implicated in the biosynthesis of vasopressin and influences circadian rhythms.
Journal: Glia
Published: January 28, 2021
Sec22b determines Weibel-Palade body length by controlling anterograde ER-Golgi transport.
Journal: Haematologica
Published: April 28, 2020
Human-iPSC-Derived Cardiac Stromal Cells Enhance Maturation in 3D Cardiac Microtissues and Reveal Non-cardiomyocyte Contributions to Heart Disease.
Journal: Cell stem cell
Published: February 03, 2020
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Journal: Human molecular genetics
Published: September 27, 2019
CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity.
CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity.
Journal: International journal of molecular sciences
Published: July 19, 2019
In vitro modelling of alveolar repair at the air-liquid interface using alveolar epithelial cells derived from human induced pluripotent stem cells.
Journal: Scientific reports
Published: May 08, 2019
Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice.
Journal: Translational stroke research
Published: March 19, 2019
Last Updated: 09/26/2026