| Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children. | Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children.
Horinouchi T, Nagano C, Watts AJB. | 01/4/2024 |
| Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKCdelta Activation. | Loss of S1P Lyase Expression in Human Podocytes Causes a Reduction in Nephrin Expression That Involves PKCδ Activation.
Imeri F, Stepanovska Tanturovska B, Manaila R, Pavenstädt H, Pfeilschifter J, Huwiler A., Free PMC Article | 03/1/2023 |
| Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome. | Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome.
El-Refaey AM, Elsamanoudy AZ, Elmorsy Z, Gaber E, Sarhan A, Hammad A, Zedan MM, Bakr A. | 08/20/2022 |
| Nephrin expression in human epidermal keratinocytes and its implication in poor wound closure. | Nephrin expression in human epidermal keratinocytes and its implication in poor wound closure.
Kim JY, Lee EJ, Seo J, Lee Y, Ahn Y, Park S, Bae YJ, Lee J, Lim BJ, Kim D, Cho JW, Oh SH. | 07/2/2022 |
| Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. | Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.
Thomas MM, Ahmed HM, El-Dessouky SH, Ramadan A, Botrous OE, Abdel-Hamid MS. | 06/11/2022 |
| Urinary Matrix Metalloproteinase-9 and Nephrin in Idiopathic Membranous Nephropathy: A Cross-Sectional Study. | Urinary Matrix Metalloproteinase-9 and Nephrin in Idiopathic Membranous Nephropathy: A Cross-Sectional Study.
Gilbert A, Changjuan A, Guixue C, Jianhua L, Xiaosong Q., Free PMC Article | 02/5/2022 |
| The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia. | The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia.
Khaliq OP, Konoshita T, Moodley J, Naicker T. | 12/18/2021 |
| Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function. | Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.
Yoshida S, Wei X, Zhang G, O'Connor CL, Torres M, Zhou Z, Lin L, Menon R, Xu X, Zheng W, Xiong Y, Otto E, Tang CA, Hua R, Verma R, Mori H, Zhang Y, Hu CA, Liu M, Garg P, Hodgin JB, Sun S, Bitzer M, Qi L., Free PMC Article | 10/2/2021 |
| Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. | Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Jia X, Yamamura T, Gbadegesin R, McNulty MT, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor SS, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y, Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan, Baek J, Kang HG, Ha IS, Han KH, Yang EM, Korean Consortium of Hereditary Renal Diseases in Children, Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A, Midwest Pediatric Nephrology Consortium (Genetics of Nephrotic Syndrome Study Group), Dossier C, Deschênes G, NEPHROVIR, Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong HI, Sampson MG, Tokunaga K, Iijima K., Free PMC Article | 08/7/2021 |
| [Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene]. | [Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene].
Liu Z, Wang W, Zhang X, Fan S, Liu Y, Liu Y. | 01/9/2021 |
| Urinary podocyte mRNA is a potent biomarker of anti-neutrophil cytoplasmic antibody-associated glomerulonephritis. | Urinary podocyte mRNA is a potent biomarker of anti-neutrophil cytoplasmic antibody-associated glomerulonephritis.
Minakawa A, Fukuda A, Kikuchi M, Sato Y, Sato Y, Kitamura K, Fujimoto S. | 12/12/2020 |
| The importance of nephrin Y(1139)RSL for healthy podocyte development was supported by population-level analyses of genetic variations at this motif, revealing that such variations are very rare, suggesting that mutations in this motif have autosomal-recessive negative effects on kidney health. | The human nephrin Y(1139)RSL motif is essential for podocyte foot process organization and slit diaphragm formation during glomerular development.
Espiritu EB, Jiang H, Moreau-Marquis S, Sullivan M, Yan K, Beer Stolz D, Sampson MG, Hukriede NA, Swiatecka-Urban A., Free PMC Article | 02/29/2020 |
| Focal segmental glomerulosclerosis (FSGS) is still one of the common causes of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene, participated in the pathogenesis of FSGS. Thirty-two genetic mutations of NPHS1 gene were identified in FSGS patients, including 12 synonymous mutations, 17 missense mutations, 1 splicing mutation, and 2 intron mutations. | A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.
Zhuo L, Huang L, Yang Z, Li G, Wang L., Free PMC Article | 12/7/2019 |
| The aim of the study was to evaluate NPHS1 mutations, its susceptibility to the disease, and their association in children with steroid-resistant NS; mutation frequency of 9% was observed in patients with steroid-resistant nephrotic syndrome, of which, six mutations and two single-nucleotide polymorphisms observed in the study population were found to be novel | Novel variations in NPHS1 gene in children of South Indian population and its association with primary nephrotic syndrome.
Mohanapriya CD, Vettriselvi V, Nammalwar BR, Gowrishankar K, Ekambaram S, Sengutavan P, Venkatachalam P. | 11/30/2019 |
| This study demonstrates that the majority of CNS cases (67%, 8/12 patients) are caused by genetic defects, and the NPHS1 mutation is the most common cause of CNS in Chinese patients. | Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome.
Li GM, Cao Q, Shen Q, Sun L, Zhai YH, Liu HM, An Y, Xu H., Free PMC Article | 10/12/2019 |
| We confirmed the interaction of endogenous SHROOM3 with FYN in podocytes via a critical Src homology 3-binding domain, distinct from its ROCK-binding domain. Shroom3-Fyn interaction was required in vitro and in vivo for activation of Fyn kinase and downstream nephrin phosphorylation in podocytes. | SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts.
Wei C, Banu K, Garzon F, Basgen JM, Philippe N, Yi Z, Liu R, Choudhuri J, Fribourg M, Liu T, Cumpelik A, Wong J, Khan M, Das B, Keung K, Salem F, Campbell KN, Kaufman L, Cravedi P, Zhang W, O'Connell PJ, He JC, Murphy B, Menon MC., Free PMC Article | 09/28/2019 |
| This study established human induced pluripotent stem cells (iPSCs) from a patient with an NPHS1 missense mutation, and reproduced the slit diaphragm formation in kidney podocytes using iPSC-derived kidney organoids. | Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney Podocytes.
Tanigawa S, Islam M, Sharmin S, Naganuma H, Yoshimura Y, Haque F, Era T, Nakazato H, Nakanishi K, Sakuma T, Yamamoto T, Kurihara H, Taguchi A, Nishinakamura R., Free PMC Article | 09/21/2019 |
| Urine markers of podocyte dysfunction: a review of podocalyxin and nephrin in selected glomerular diseases. | Urine markers of podocyte dysfunction: a review of podocalyxin and nephrin in selected glomerular diseases.
Akankwasa G, Jianhua L, Guixue C, Changjuan A, Xiaosong Q. | 07/27/2019 |
| Study observed significant increase in C1-Ten level in diabetic kidney and in high glucose-induced damaged podocytes. C1-Ten acts as a protein tyrosine phosphatase (PTPase) at the nephrin-PI3K binding site and renders PI3K for IRS-1, thereby activating mTORC1. These findings demonstrate the relationship between nephrin dephosphorylation and the mTORC1 pathway, mediated by C1-Ten PTPase activity. | C1-Ten is a PTPase of nephrin, regulating podocyte hypertrophy through mTORC1 activation.
Lee J, Koh A, Jeong H, Kim E, Ha TS, Saleem MA, Ryu SH., Free PMC Article | 07/6/2019 |
| Results found that in addition to mutations in COL4A5 type IV collagen gene, nephrin and podocin polymorphisms aggravated kidney damage, leading to focal segmental glomerulosclerosis (FSGS) with ruptures of the basement membrane and early renal failure. This study suggests a synergistic role for genes encoding basement membrane and slit diaphragm proteins as a cause of kidney injury due to FSGS. | Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis.
Frese J, Kettwig M, Zappel H, Hofer J, Gröne HJ, Nagel M, Sunder-Plassmann G, Kain R, Neuweiler J, Gross O., Free PMC Article | 06/8/2019 |
| Pathogenic and likely pathogenic mutations in NPHS1, NPHS2, PLCE1 genes were identified by genetic testing of South Indian children with steroid resistant nephrotic syndrome. | Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.
Siji A, Karthik KN, Pardeshi VC, Hari PS, Vasudevan A., Free PMC Article | 05/25/2019 |
| Mutation analysis showed that each patient carried a compound heterozygous mutation of NPHS1 gene. Patient 1 carried IVS 24 + 5 G > A and c2663G > A (p.R888K) mutations (Figs. 1 and 2). Patient 2 carried IVS6-1G > C and c1760T > G (p.L587R) mutations (Figs. 3 and 4). Each mutation was inherited from paternal and maternal DNA respectively. | Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome.
Li P. | 09/8/2018 |
| Angiotensin II has a role in increasing glomerular permeability by beta-arrestin mediated nephrin endocytosis | Angiotensin II increases glomerular permeability by β-arrestin mediated nephrin endocytosis.
Königshausen E, Zierhut UM, Ruetze M, Potthoff SA, Stegbauer J, Woznowski M, Quack I, Rump LC, Sellin L., Free PMC Article | 08/11/2018 |
| This prospective observational study compare urine nephrin:creatinine ratio (NCR, ng/mg) with serum soluble fms-like tyrosine kinase-1:placental growth factor ratio (FPR, pg/pg) for preeclampsia (PE) prediction among unselected asymptomatic pregnant women in 2(nd) trimester. | Second-trimester urine nephrin:creatinine ratio versus soluble fms-like tyrosine kinase-1:placental growth factor ratio for prediction of preeclampsia among asymptomatic women.
Zhai T, Furuta I, Nakagawa K, Kojima T, Umazume T, Ishikawa S, Yamada T, Morikawa M, Minakami H., Free PMC Article | 05/26/2018 |
| Outcomes of renal replacement therapy in NPHS1 patients in Europe were analysed using data from the ESPN/ERA-EDTA Registry | Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry.
Hölttä T, Bonthuis M, Van Stralen KJ, Bjerre A, Topaloglu R, Ozaltin F, Holmberg C, Harambat J, Jager KJ, Schaefer F, Groothoff JW. | 03/3/2018 |