A molecular approach to inherited kidney disorders

Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine content.

Scientific reports·2023

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Scientific reports·2021

Current anti-myeloma therapies in renal manifestations of monoclonal light chain-associated Fanconi syndrome: a retrospective series of 49 patients.

Leukemia·2016

A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

Endocrinology·2015

Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2014

Therapeutic mTOR inhibition in autosomal dominant polycystic kidney disease: What is the appropriate serum level?

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2010

Heme-induced kallikrein-kinin system activation in hemolytic uremic syndrome.

Kidney international·2026

International Society of Nephrology International Expert Forum: exploring the nexus of cardiovascular-kidney-metabolic health.

Kidney international·2026

Better Guidelines, Better Patient Lives: A Sustainable Partnership Model for Integrating Lived Experience into Clinical Guideline Development.

Kidney international·2026

New insights from DAPA-CKD indicate dapagliflozin modulates key pathways related to kidney outcomes.

Kidney international·2026

A multi-national study examined the response sustainability to calcineurin inhibitors and long-term kidney survivals in children with genetic podocytopathies.

Kidney international·2026

Early acute T cell-mediated rejection and kidney allograft outcomes.

Kidney international·2026

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Annals of human genetics·2026

Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Cureus·2026

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Frontiers in neurology·2026

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

HLA·2026

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Neuroscience·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

Related Experiment Videos

A molecular approach to inherited kidney disorders

Related Concept Videos

Dietary supplementation of cystinotic mice by lysine inhibits the megalin pathway and decreases kidney cystine content.

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Current anti-myeloma therapies in renal manifestations of monoclonal light chain-associated Fanconi syndrome: a retrospective series of 49 patients.

A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.

Therapeutic mTOR inhibition in autosomal dominant polycystic kidney disease: What is the appropriate serum level?

Heme-induced kallikrein-kinin system activation in hemolytic uremic syndrome.

International Society of Nephrology International Expert Forum: exploring the nexus of cardiovascular-kidney-metabolic health.

Better Guidelines, Better Patient Lives: A Sustainable Partnership Model for Integrating Lived Experience into Clinical Guideline Development.

New insights from DAPA-CKD indicate dapagliflozin modulates key pathways related to kidney outcomes.

A multi-national study examined the response sustainability to calcineurin inhibitors and long-term kidney survivals in children with genetic podocytopathies.

Early acute T cell-mediated rejection and kidney allograft outcomes.

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Related Experiment Videos

A molecular approach to inherited kidney disorders

Related Concept Videos

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