Chandran Ka

Brest, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 32 publications

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.

Journal: HGG advances

Published: March 13, 2024

Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.

Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.

Journal: Kidney international

Published: February 28, 2024

The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.

The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.

Journal: Cells

Published: December 01, 2023

Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.

Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.

Journal: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]

Published: April 03, 2023

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).

Journal: Human mutation

Published: December 02, 2022

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.

Journal: Clinical genetics

Published: October 10, 2022

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: April 20, 2022

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

Journal: Journal of inherited metabolic disease

Published: March 17, 2022

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Journal: Human mutation

Published: January 04, 2022

Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.

Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.

Journal: International journal of molecular sciences

Published: May 19, 2021

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.

Journal: Transfusion

Published: October 26, 2020

Showing 1-12 of 32

Last Updated: 09/26/2026