Molecular genetics of hereditary nephritis

Polycystin-L is a calcium-regulated cation channel permeable to calcium ions.

Nature·1999

Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects.

The Journal of biological chemistry·1998

Distribution and developmentally regulated expression of murine polycystin.

The American journal of physiology·1997

Identification and localization of polycystin, the PKD1 gene product.

The Journal of clinical investigation·1996

A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2.

Genomics·1996

Sera from patients with anti-GBM nephritis including goodpasture syndrome show heterogenous reactivity to recombinant NC1 domain of type IV collagen alpha chains.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·1996

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

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Frontiers in genetics·2026

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

Frontiers in pediatrics·2026

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Epilepsia·2026

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

Seizure·2026

Related Experiment Videos

Molecular genetics of hereditary nephritis

Related Concept Videos

Polycystin-L is a calcium-regulated cation channel permeable to calcium ions.

Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects.

Distribution and developmentally regulated expression of murine polycystin.

Identification and localization of polycystin, the PKD1 gene product.

A gene similar to PKD1 maps to chromosome 4q22: a candidate gene for PKD2.

Sera from patients with anti-GBM nephritis including goodpasture syndrome show heterogenous reactivity to recombinant NC1 domain of type IV collagen alpha chains.

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.

Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

Recognizing KBG syndrome in pediatric practice: a case series highlighting phenotypic variability and diagnostic clues.

[Association analysis between dystrophin gene polymorphism and non-syndromic cleft lip with or without cleft palate].

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families.

Related Experiment Videos

Molecular genetics of hereditary nephritis

Related Concept Videos

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