Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children
Y Frishberg, C Rinat, O Megged… - Journal of the …, 2002 - journals.lww.com
Steroid-resistant nephrotic syndrome (SRNS) represents a heterogeneous group of kidney
disorders that are often resistant to other immunosuppressive agents and tend to progress to …
disorders that are often resistant to other immunosuppressive agents and tend to progress to …
NPHS2 mutations in Indian children with sporadic early steroid resistant nephrotic syndrome
A Vasudevan, A Siji, A Raghavendra, TS Sridhar… - Indian Pediatrics, 2012 - Springer
We examined the frequency and spectrum of podocin NPHS2 mutations in Indian children
with sporadic steroid resistant nephrotic syndrome (SRNS). Of 25 children screened, only …
with sporadic steroid resistant nephrotic syndrome (SRNS). Of 25 children screened, only …
[HTML][HTML] Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant
E Machuca, A Hummel, F Nevo, J Dantal, F Martinez… - Kidney international, 2009 - Elsevier
Mutations of NPHS2, encoding podocin, are the main cause of autosomal recessive steroid-
resistant nephrotic syndrome (NS) presenting in childhood. Adult-onset steroid-resistant NS …
resistant nephrotic syndrome (NS) presenting in childhood. Adult-onset steroid-resistant NS …
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin
Mutations of NPHS2, ie, the gene coding for podocin, are associated with nephrotic
syndrome (NS) in children, with a clinical phenotype characterized by variable age at onset …
syndrome (NS) in children, with a clinical phenotype characterized by variable age at onset …
NPHS2 mutation associated with recurrence of proteinuria after transplantation
H Billing, D Müller, R Ruf, A Lichtenberger… - Pediatric …, 2004 - Springer
Mutations in the NPHS2 gene encoding podocin are associated with steroid-resistant
nephrotic syndrome (SRNS) in childhood. Patients usually present with focal segmental …
nephrotic syndrome (SRNS) in childhood. Patients usually present with focal segmental …
NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children
K Maruyama, K Iijima, M Ikeda, A Kitamura… - Pediatric …, 2003 - Springer
Podocin is an integral membrane protein encoded by NPHS2, which is mapped to 1q25–31
and is exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for …
and is exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for …
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome
B Hinkes, C Vlangos, S Heeringa… - Journal of the …, 2008 - journals.lww.com
Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-
resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype …
resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype …
NPHS2 Mutations in Steroid‐Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum
K Bouchireb, O Boyer, O Gribouval, F Nevo… - Human …, 2014 - Wiley Online Library
Mutations in the NPHS 2 gene encoding podocin are implicated in an autosomal‐recessive
form of nonsyndromic steroid‐resistant nephrotic syndrome in both pediatric and adult …
form of nonsyndromic steroid‐resistant nephrotic syndrome in both pediatric and adult …
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome
RG Ruf, A Lichtenberger, SM Karle… - Journal of the …, 2004 - journals.lww.com
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia,
edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to …
edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to …
The heart of children with steroid-resistant nephrotic syndrome: is it all podocin?
Y Frishberg, S Feinstein, C Rinat… - Journal of the …, 2006 - journals.lww.com
Mutations in the gene NPHS2 encoding podocin are responsible for a recessive form of
steroid-resistant nephrotic syndrome (SRNS). The common phenotype is of massive …
steroid-resistant nephrotic syndrome (SRNS). The common phenotype is of massive …
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