Isavella Savva

1, University Avenue
Nicosia, 2109, Cyprus

Last Updated: 09/26/2026

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Found 10 publications

A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome.

A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome.

Journal: Matrix biology plus

Published: July 30, 2020

Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy.

Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: December 04, 2018

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Journal: BMC nephrology

Published: May 04, 2017

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: February 13, 2016

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.

Journal: Case reports in genetics

Published: December 29, 2015

RAAS inhibition and the course of Alport syndrome.

RAAS inhibition and the course of Alport syndrome.

Journal: Pharmacological research

Published: November 18, 2015

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

Journal: Nephron

Published: March 17, 2015

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

Journal: Nephron

Published: March 06, 2015

Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

Journal: PloS one

Published: August 06, 2014

Evidence for activation of the unfolded protein response in collagen IV nephropathies.

Evidence for activation of the unfolded protein response in collagen IV nephropathies.

Journal: Journal of the American Society of Nephrology : JASN

Published: November 23, 2013

Showing 1-10 of 10

Last Updated: 09/26/2026