Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. - Wikidata - awgldk - TriplyDB

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

http://www.wikidata.org/entity/Q36677399

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A systematic approach to mapping recessive disease genes in individuals from outbred populations Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice Genetic testing in steroid-resistant nephrotic syndrome: when and how?alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association Genetic kidney diseases.Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.Genetic testing in nephrotic syndrome--challenges and opportunities.The Genetics of Nephrotic Syndrome.Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.Focal segmental glomerulosclerosis and chronic kidney disease in pediatric patients.NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.Steroid-resistant nephrotic syndrome: impact of genetic testing.Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Familial FSGS.The etiology of congenital nephrotic syndrome: current status and challenges.A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.What is the risk that I will transmit nephrotic syndrome to my children, Doctor?The amino acid mutations of the podocin in proteinuria: a meta-analysis.NPHS2 Mutations: A Closer Look to Latin American Countries.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.An inducible mouse model of podocin-mutation-related nephrotic syndrome.NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.Hereditary Podocytopathies in Adults: The Next Generation.Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children.Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.Nephrin Signaling in the Podocyte: An Updated View of Signal Regulation at the Slit Diaphragm and Beyond.Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome Proteinuric Kidney Diseases: A Podocyte's Slit Diaphragm and Cytoskeleton Approach

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P2860

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.

http://www.wikidata.org/entity/Q36677399

description

2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Specific podocin mutations cor ...... -resistant nephrotic syndrome.

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Specific podocin mutations cor ...... -resistant nephrotic syndrome.

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Specific podocin mutations cor ...... -resistant nephrotic syndrome.

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Specific podocin mutations cor ...... -resistant nephrotic syndrome.

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Specific podocin mutations cor ...... -resistant nephrotic syndrome.

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Specific podocin mutations cor ...... -resistant nephrotic syndrome.

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Journal of the American Society of Nephrology

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Specific podocin mutations cor ...... d-resistant nephrotic syndrome

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P2093

APN Study Group

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Bernward Hinkes

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Christopher Vlangos

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Fatih Ozaltin

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Friedhelm Hildebrandt

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Jinhong Liu

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Katrin Hasselbacher

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Rasheed Gbadegesin

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Saskia Heeringa

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P2860

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

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

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

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

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

Intracellular mislocalization of mutant podocin and correction by chemical chaperones.

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365-371

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10.1681/ASN.2007040452

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2

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19

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2008-01-23T00:00:00Z

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18216321

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2396749

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