Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Podocin related mutations are not too much associated with SRNS in adults, but we should consider the possibility of TRPC6 gene mutation in this population.
|
31529341 |
2019 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NPHS2 gene, which encodes the podocyte slit diaphragm protein podocin, cause autosomal recessive steroid-resistant nephrotic syndrome (Online Mendelian Inheritance in Man [OMIM] #600995).
|
30241959 |
2019 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to screen for podocin mutations in SRNS Egyptian children and their parents.
|
28385484 |
2018 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
Biomarker
|
disease |
BEFREE |
NPHS2, encoding podocin, is the major gene implicated in steroid-resistant nephrotic syndrome.
|
30260545 |
2018 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene <i>NPHS2</i> are a common cause of hereditary steroid-resistant nephrotic syndrome.
|
29382718 |
2018 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
|
27885584 |
2017 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.
|
27573339 |
2017 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis was carried out by direct sequencing of the entire NPHS2 gene (eight exons) using specific primers in 200 INS (100 SRNS and 100 steroid sensitive) children and 100 healthy controls.
|
26820844 |
2017 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common mutated genes were ADCK4 (6.67%), NPHS1 (5.83%), WT1 (5.83%), and NPHS2 (3.33%), and the difference in the frequencies of ADCK4 and NPHS2 mutations between this study and a study on monogenic causes of SRNS in the largest international cohort of 1,783 different families was significant.
|
28204945 |
2017 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
Biomarker
|
disease |
BEFREE |
The overall mutation detection rate was high at 57% (97% in CNS and 41% in SRNS); 85% of all mutations were identified by the analysis of three single genes only (NPHS1, NPHS2, and WT1), accounting for 92% of all mutations in patients with CNS and 79% of all mutations in patients with SRNS.
|
26668027 |
2016 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS.
|
25349199 |
2015 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
|
24509478 |
2014 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
NPHS2 gene analysis showed R229Q polymorphism in six SRNS (30%), four SSNS (4.4%) and 13 controls (26%).
|
24519673 |
2014 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NPHS2 gene are a major cause of steroid-resistant nephrotic syndrome, a severe human kidney disorder.
|
24596097 |
2014 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.
|
24715228 |
2014 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in NPHS2, which encodes for podocin, an integral membrane protein of the glomerular epithelial cells (podocytes), represent a frequent cause of steroid-resistant nephrotic syndrome worldwide.
|
24674236 |
2014 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by late SRNS in Chinese southern infants.
|
25112471 |
2014 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS).
|
25501161 |
2014 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Results indicate possible clustering of causative NPHS2 mutations in FSGS-proven SRNS with onset before age one year old, and provide additional evidence that patients with childhood steroid-resistant nephrotic syndrome due to focal segmental glomerulosclerosis should first undergo analysis of NPHS2 coding sequence and WT1 exons 8 and 9 and surrounding exon/intron boundary sequences, followed by gender genotyping.
|
24856380 |
2014 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
|
24227627 |
2014 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
Biomarker
|
disease |
BEFREE |
Podocin is a key protein involved in the pathogenesis of steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis (FSGS) and is characterized by a high rate of early recurrence after renal transplantation (RTx) in children and adults.
|
23982418 |
2013 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Current guidelines propose the sequencing of all NPHS2 exons only in childhood-onset SRNS.
|
23242530 |
2013 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome.
|
23913389 |
2013 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of NPHS2 gene are frequent among Iranian children with SRNS.
|
24072147 |
2013 |
Steroid resistant nephrotic syndrome of childhood
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gene R229Q polymorphism (p.R229Q) of NPHS2 is associated with adolescent- or adult-onset SRNS in European and South American populations.
|
24072153 |
2013 |