NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele - Wikidata - thesis-toulmin - TriplyDB

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

http://www.wikidata.org/entity/Q24554305

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Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins Disruption of PTPRO causes childhood-onset nephrotic syndrome Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin.Large-scale identification of genes implicated in kidney glomerulus development and function.NPHS2 variation in focal and segmental glomerulosclerosis.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.NPHS2 variation in sporadic focal segmental glomerulosclerosis Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.Etiopathology of chronic tubular, glomerular and renovascular nephropathies: clinical implications Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.Long-term outcome of biopsy-proven, frequently relapsing minimal-change nephrotic syndrome in children.Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation.Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.NPHS2 mutations account for only 15% of nephrotic syndrome cases.The pediatric nephrotic syndrome spectrum: clinical homogeneity and molecular heterogeneity.Regulation of COX-2 mediated signaling by alpha3 type IV noncollagenous domain in tumor angiogenesis.Early glomerular filtration defect and severe renal disease in podocin-deficient mice Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.Genetics of focal segmental glomerulosclerosis The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults.The Genetics of Nephrotic Syndrome.Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.Podocin and beta dystroglycan expression to study podocyte-podocyte and basement membrane matrix connections in adult protienuric states.Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Familial FSGS.Molecular and genetic basis of inherited nephrotic syndrome Human genetics of nephrotic syndrome and the quest for precision medicine.What is the risk that I will transmit nephrotic syndrome to my children, Doctor?Genetic susceptibility to HIV-associated nephropathy.Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation An overview of molecular mechanism of nephrotic syndrome.R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.Hereditary Podocytopathies in Adults: The Next Generation.

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NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

http://www.wikidata.org/entity/Q24554305

description

2002 nî lūn-bûn

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2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

NPHS2 mutations in late-onset ...... mmon disease-associated allele

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NPHS2 mutations in late-onset ...... mmon disease-associated allele

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NPHS2 mutations in late-onset ...... mmon disease-associated allele

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type

label

NPHS2 mutations in late-onset ...... mmon disease-associated allele

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NPHS2 mutations in late-onset ...... mmon disease-associated allele

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NPHS2 mutations in late-onset ...... mmon disease-associated allele

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prefLabel

NPHS2 mutations in late-onset ...... mmon disease-associated allele

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NPHS2 mutations in late-onset ...... mmon disease-associated allele

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NPHS2 mutations in late-onset ...... mmon disease-associated allele

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Journal of Clinical Investigation

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NPHS2 mutations in late-onset ...... mmon disease-associated allele

@en

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Akulapalli Sudhakar

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

Aparecido B Pereira

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

Asher D Schachter

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

Esteban Poch

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Gerald B Appel

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Hiroyasu Tsukaguchi

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Joshua A Schwimmer

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Jun Yao

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

Martin R Pollak

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

Patricia F Abreu

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P2860

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

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

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin

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

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

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

Interaction with podocin facilitates nephrin signaling

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

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1659-66

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scholarly article

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10.1172/JCI16242

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P433

11

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P478

110

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2002-12-01T00:00:00Z

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12464671

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151634

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