Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. - Wikidata - wikimedia - TriplyDB

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

http://www.wikidata.org/entity/Q34514814

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Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome Interaction with podocin facilitates nephrin signaling beta-Arrestin2 mediates nephrin endocytosis and impairs slit diaphragm integrity.Cannabinoid receptor 1 blockade ameliorates albuminuria in experimental diabetic nephropathy.Coding variants in nephrin (NPHS1) and susceptibility to nephropathy in African Americans.Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.Genetic kidney diseases disclose the pathogenesis of proteinuria.Long-term outcome of biopsy-proven, frequently relapsing minimal-change nephrotic syndrome in children.Genetic causes of proteinuria and nephrotic syndrome: impact on podocyte pathobiology.Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1).Phenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases.New insights into the pathogenesis and the therapy of recurrent focal glomerulosclerosis.Molecular basis of the glomerular filtration: nephrin and the emerging protein complex at the podocyte slit diaphragm.Genetics of focal segmental glomerulosclerosis Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.Nephrin missense mutations: induction of endoplasmic reticulum stress and cell surface rescue by reduction in chaperone interactions.Podocytes: the Weakest Link in Diabetic Kidney Disease?Nephrin and Podocin functions are highly conserved between the zebrafish pronephros and mammalian metanephros.Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome Glomerular diseases: genetic causes and future therapeutics.Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.Molecular and genetic basis of inherited nephrotic syndrome Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.Diagnosis of congenital and infantile nephrotic syndromes in renal biopsies in Minas Gerais, Brazil: Six case reports.Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.Assessment of urinary osteopontin in association with podocyte for early predication of nephropathy in diabetic patients.NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.Vascular endothelial growth factor and nephrin interact and reduce apoptosis in human podocytes.A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?ARF6 mediates nephrin tyrosine phosphorylation-induced podocyte cellular dynamics Stretch reduces nephrin expression via an angiotensin II-AT(1)-dependent mechanism in human podocytes: effect of rosiglitazone.Tissue expression of nephrin in human and pig.Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.

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P2860

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

http://www.wikidata.org/entity/Q34514814

description

2001 nî lūn-bûn

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2001 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2001 թվականի մայիսին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

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Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

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Mutation spectrum in the nephrin gene

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type

label

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

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Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

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Mutation spectrum in the nephrin gene

@nl

prefLabel

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

@ast

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

@en

Mutation spectrum in the nephrin gene

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Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

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Beltcheva O

http://www.w3.org/2001/XMLSchema#string

Lenkkeri U

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Martin P

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Tryggvason K

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P2860

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

Disease gene mapping in isolated human populations: the example of Finland

Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

Nephrin is specifically located at the slit diaphragm of glomerular podocytes

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

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10.1002/HUMU.1111

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5

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