Elena Torban

1001 Boulevard Decarie, Room EM1.3248
Montreal, QC H4A3J1, Canada

Last Updated: 09/26/2026

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Found 28 publications

Translational readthrough therapy for ADPKD induces polycystin1 expression and partially rescues functional deficits in PKD1 mutant cells.

Translational readthrough therapy for ADPKD induces polycystin1 expression and partially rescues functional deficits in PKD1 mutant cells.

Journal: Scientific reports

Published: June 16, 2025

Emerging therapeutic strategies for cystinosis.

Emerging therapeutic strategies for cystinosis.

Journal: Frontiers in pediatrics

Published: March 27, 2025

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.

Journal: Human molecular genetics

Published: August 13, 2024

Wilms' tumor gene 1: lessons from the interface between kidney development and cancer.

Wilms' tumor gene 1: lessons from the interface between kidney development and cancer.

Journal: American journal of physiology. Renal physiology

Published: November 02, 2023

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.

Journal: European journal of human genetics : EJHG

Published: November 01, 2023

Primary cilia and actin regulatory pathways in renal ciliopathies.

Primary cilia and actin regulatory pathways in renal ciliopathies.

Journal: Frontiers in nephrology

Published: November 01, 2023

The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP.

The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP.

Journal: Development (Cambridge, England)

Published: September 04, 2023

Advancing Discovery Research in Nephrology in Canada: A Conference Report From the 2021 Molecules and Mechanisms Mediating Kidney Health and Disease (M3K) Scientific Meeting and Investigator Summit.

Advancing Discovery Research in Nephrology in Canada: A Conference Report From the 2021 Molecules and Mechanisms Mediating Kidney Health and Disease (M3K) Scientific Meeting and Investigator Summit.

Journal: Canadian journal of kidney health and disease

Published: July 14, 2022

Can Peer Review Be Kinder? Supportive Peer Review: A Re-Commitment to Kindness and a Call to Action.

Can Peer Review Be Kinder? Supportive Peer Review: A Re-Commitment to Kindness and a Call to Action.

Journal: Canadian journal of kidney health and disease

Published: January 23, 2022

Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways.

Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways.

Journal: Journal of developmental biology

Published: November 18, 2021

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.

Journal: European journal of human genetics : EJHG

Published: February 17, 2021

Planar cell polarity pathway in kidney development, function and disease.

Planar cell polarity pathway in kidney development, function and disease.

Journal: Nature reviews. Nephrology

Published: January 07, 2021

Showing 1-12 of 28

Last Updated: 09/26/2026