Use of genomic and functional analysis to characterize patients with steroid-resistant nephrotic syndrome
TM Kitzler, N Kachurina, MM Bitzan, E Torban… - Pediatric …, 2018 - Springer
Background Children with genetic causes of steroid-resistant nephrotic syndrome (SRNS)
usually do well after renal transplantation, while some with idiopathic SRNS show …
usually do well after renal transplantation, while some with idiopathic SRNS show …
Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern
M Suvanto, J Patrakka, T Jahnukainen… - Clinical and …, 2017 - Springer
Background Steroid-resistant nephrotic syndrome (SRNS) is a common cause of end-stage
renal disease in children but also occurs as an adult-onset condition. In a subset of SRNS …
renal disease in children but also occurs as an adult-onset condition. In a subset of SRNS …
[HTML][HTML] The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis
MA Govender, J Fabian, E Gottlich, C Levy… - Communications …, 2019 - nature.com
In black African children with focal segmental glomerulosclerosis (FSGS) there are high
rates of steroid resistance. The aim was to determine genetic associations with …
rates of steroid resistance. The aim was to determine genetic associations with …
[PDF][PDF] Tratamiento eficaz de la arteriolopatía urémica calcificante con bifosfonatos
JV Torregrosa, CE Durán, X Barros, M Blasco… - Nefrología …, 2012 - SciELO Espana
TORREGROSA, José V. et al. Tratamiento eficaz de la arteriolopatía urémica calcificante
con bifosfonatos. Nefrología (Madr.)[online]. 2012, vol. 32, n. 3, pp. 329-334. ISSN 0211 …
con bifosfonatos. Nefrología (Madr.)[online]. 2012, vol. 32, n. 3, pp. 329-334. ISSN 0211 …
[HTML][HTML] CD80, suPAR and nephrotic syndrome in a case of NPHS2 mutation
G Cara-Fuentes, C Araya, C Wei… - Nefrología (English …, 2013 - revistanefrologia.com
Antecedentes: Las mutaciones de la podocina están caracterizadas por la progresión hacia
enfermedad renal terminal y por hallazgos histológicos de glomeruloesclerosis segmentaria …
enfermedad renal terminal y por hallazgos histológicos de glomeruloesclerosis segmentaria …
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis
L Lu, H Wan, Y Yin, WJ Feng, M Wang, YC Zou… - … urology and nephrology, 2014 - Springer
While many previous studies have reported an association between the p. R229Q variant of
the NPHS2 gene and focal segmental glomerulosclerosis (FSGS) or steroid-resistant …
the NPHS2 gene and focal segmental glomerulosclerosis (FSGS) or steroid-resistant …
[HTML][HTML] Association Between NPHS2 p.R229Q and Focal Segmental Glomerular Sclerosis/Steroid-Resistant Nephrotic Syndrome
Q Zhou, Q Weng, X Zhang, Y Liu, J Tong, X Hao… - Frontiers in …, 2022 - frontiersin.org
Aim NPHS2 is the coding gene of podocin. This study aims to investigate the association
between NPHS2 p. R229Q (rs61747728), the most frequently reported missense variant of …
between NPHS2 p. R229Q (rs61747728), the most frequently reported missense variant of …
[HTML][HTML] Treatment of idiopathic focal segmental glomerulosclerosis: options in the event of resistance to corticosteroids and calcineurin inhibitors
A Segarra Medrano… - Nefrología (English …, 2013 - revistanefrologia.com
La mitad de los enfermos con síndrome nefrótico causado por glomeruloesclerosis focal y
segmentaria (GFS) primaria presentan resistencia al tratamiento con esteroides. En caso de …
segmentaria (GFS) primaria presentan resistencia al tratamiento con esteroides. En caso de …
Molecular genetic analysis of Steroid Resistant Nephrotic Syndrome: Detection of a novel mutation
N Serajpour, B Karimi, N Hooman, R Hosseini… - bioRxiv, 2018 - biorxiv.org
Background: Nephrotic syndrome is one of the most common kidney diseases in childhood.
About 20% of children are steroid-resistant NS (SRNS) which progress to end-stage renal …
About 20% of children are steroid-resistant NS (SRNS) which progress to end-stage renal …
[HTML][HTML] Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS
Y Li, Y Wang, Q He, X Dang, Y Cao… - Molecular …, 2018 - spandidos-publications.com
Focal segmental glomerulosclerosis (FSGS) is a pathological lesion rather than a disease,
with a diverse etiology. FSGS may result from genetic and non‑genetic factors. FSGS is …
with a diverse etiology. FSGS may result from genetic and non‑genetic factors. FSGS is …