Sima Babayeva

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 13 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

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

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

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

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

Differential role of planar cell polarity gene Vangl2 in embryonic and adult mammalian kidneys.

Differential role of planar cell polarity gene Vangl2 in embryonic and adult mammalian kidneys.

Journal: PloS one

Published: November 13, 2019

Intrinsic tumor necrosis factor-α pathway is activated in a subset of patients with focal segmental glomerulosclerosis.

Intrinsic tumor necrosis factor-α pathway is activated in a subset of patients with focal segmental glomerulosclerosis.

Journal: PloS one

Published: January 14, 2019

Novel unbiased assay for circulating podocyte-toxic factors associated with recurrent focal segmental glomerulosclerosis.

Novel unbiased assay for circulating podocyte-toxic factors associated with recurrent focal segmental glomerulosclerosis.

Journal: American journal of physiology. Renal physiology

Published: August 04, 2015

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

Journal: Human molecular genetics

Published: May 09, 2015

Deficiency of the planar cell polarity protein Vangl2 in podocytes affects glomerular morphogenesis and increases susceptibility to injury.

Deficiency of the planar cell polarity protein Vangl2 in podocytes affects glomerular morphogenesis and increases susceptibility to injury.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 23, 2014

Planar cell polarity pathway regulates nephrin endocytosis in developing podocytes.

Planar cell polarity pathway regulates nephrin endocytosis in developing podocytes.

Journal: The Journal of biological chemistry

Published: July 05, 2013

The PCP effector Fuzzy controls cilial assembly and signaling by recruiting Rab8 and Dishevelled to the primary cilium.

The PCP effector Fuzzy controls cilial assembly and signaling by recruiting Rab8 and Dishevelled to the primary cilium.

Journal: Molecular biology of the cell

Published: January 11, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026