Affinage

NPHS1

Nephrin · UniProt O60500

Length
1241 aa
Mass
134.7 kDa
Annotated
2026-06-10
100 papers in source corpus 12 papers cited in narrative 12 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

NPHS1 encodes nephrin, a podocyte transmembrane protein that is the structural cornerstone of the glomerular slit diaphragm and is required for the integrity of the kidney filtration barrier (PMID:9915943, PMID:10972661). Loss-of-function mutations, including the Finnish Fin-major and Fin-minor alleles, abolish nephrin protein and slit diaphragm formation, causing congenital nephrotic syndrome of the Finnish type (PMID:9915943, PMID:10972661); conditional Nphs1 knockout in mice reproduces this with foot process effacement, reduced filtration slit density, early proteinuria, and neonatal lethality (PMID:38482553). The most common pathomechanism for missense mutations is misfolding-driven endoplasmic reticulum retention that prevents nephrin from reaching the cell surface (PMID:11726550, PMID:24142548), and certain extracellular-domain missense mutations additionally impair tyrosine phosphorylation of the nephrin cytoplasmic tail and act dominant-negatively on wild-type nephrin signaling (PMID:30212551). Beyond its structural role, surface nephrin functions as a signaling protein whose activity suppresses TRPC6 channel currents, linking NPHS1 variants to modulation of TRPC6-dependent channel activity (PMID:26147534). In NPHS1 patients lacking nephrin, transplantation of a nephrin-bearing graft elicits pathogenic circulating anti-nephrin autoantibodies that impair the filtration barrier and drive post-transplant nephrotic recurrence (PMID:11549850, PMID:17519780). Nephrin function is genetically interlinked with podocin (NPHS2), where combined NPHS1/NPHS2 mutations modify the disease phenotype (PMID:11854170).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1999 High

    Establishing that NPHS1 encodes a podocyte transmembrane protein and that defined loss-of-function alleles cause congenital nephrotic syndrome answered what gene underlies the Finnish-type disease.

    Evidence Genomic structure analysis and exon sequencing in 35 NPHS1 patients identifying Fin-major and Fin-minor mutations

    PMID:9915943

    Open questions at the time
    • Did not resolve the molecular/structural role of nephrin at the slit diaphragm
    • No mechanism for how individual mutations disrupt protein function
  2. 2000 High

    Demonstrating that disease-causing mutations abolish nephrin protein and slit diaphragms while ZO-1 staining is preserved established that nephrin is specifically required for slit diaphragm formation.

    Evidence IHC, Western blot, in situ hybridization, and EM on nephrectomized kidneys from 46 Finnish patients with genotype-phenotype correlation

    PMID:10972661

    Open questions at the time
    • Did not define how nephrin organizes the slit diaphragm molecularly
    • Did not address trafficking or signaling roles
  3. 2000 Medium

    Identification of a podocyte-specific Nphs1 promoter fragment provided a tool to drive podocyte-restricted transgene expression, defining the gene's tissue specificity at the regulatory level.

    Evidence Transgenic mice with an 8.3-kb Nphs1 5' promoter driving lacZ, with X-gal staining and developmental expression analysis

    PMID:11095653

    Open questions at the time
    • Did not characterize the transcription factors controlling podocyte-specific expression
    • Unexplained brain medulla expression
  4. 2001 High

    Showing that most missense mutants are retained in the ER and fail to reach the cell surface identified defective intracellular trafficking due to misfolding as the dominant pathomechanism of missense alleles.

    Evidence Stable transfection of 21 nephrin missense mutants with immunostaining, immunoelectron microscopy, and subcellular fractionation

    PMID:11726550

    Open questions at the time
    • Did not identify the ER quality-control machinery involved
    • Did not test whether residual surface protein retains signaling function
  5. 2001 Medium

    Linking post-transplant nephrotic recurrence to circulating anti-nephrin antibodies established an autoimmune neoantigen mechanism in nephrin-null patients.

    Evidence Indirect immunofluorescence, immunoblotting, and ELISA on serial sera from transplanted NPHS1 patients with titer-disease correlation

    PMID:11549850

    Open questions at the time
    • Single-lab correlative data without proof of direct pathogenic causation
    • Antibody epitopes on nephrin not mapped
  6. 2002 Medium

    Discovery of tri-allelic NPHS1/NPHS2 inheritance modifying the phenotype established a functional pathway-level interaction between nephrin and podocin.

    Evidence Genetic epistasis analysis and sequencing of NPHS1 and NPHS2 in non-Finnish CNF and FSGS patients

    PMID:11854170

    Open questions at the time
    • Did not demonstrate physical or biochemical interaction between nephrin and podocin
    • Mechanism of phenotype modification unresolved
  7. 2007 Medium

    Correlating anti-nephrin antibody titers with graft filtration impairment and treatment response reinforced the pathogenic role of the autoantibodies and informed therapeutic intervention.

    Evidence ELISA antibody quantification with biopsy IHC and clinical outcomes in 65 patients across 77 transplants, including plasma exchange and cyclophosphamide

    PMID:17519780

    Open questions at the time
    • Correlative clinical data rather than direct mechanistic proof
    • Did not define how antibody binding disrupts barrier function molecularly
  8. 2013 Medium

    Replication of impaired plasma-membrane trafficking in a Japanese cohort confirmed ER retention as a conserved pathomechanism across populations.

    Evidence Transient transfection with permeabilized/non-permeabilized immunostaining and automated counting

    PMID:24142548

    Open questions at the time
    • Simplified assay without quantitative surface trafficking measures
    • No downstream functional consequence assessed
  9. 2015 Medium

    Demonstrating that nephrin suppresses TRPC6 channel currents and that synonymous NPHS1 polymorphisms abolish this effect revealed a signaling/channel-regulatory function for nephrin beyond its structural role.

    Evidence Patch-clamp electrophysiology in HEK293 cells and podocytes co-expressing TRPC6 and NPHS1 constructs

    PMID:26147534

    Open questions at the time
    • Single-lab study; molecular mechanism of TRPC6 suppression not defined
    • In vivo relevance of polymorphism effects not established
  10. 2018 Medium

    Showing that extracellular-domain missense mutations reduce surface expression, impair cytoplasmic-tail phosphorylation, and act dominant-negatively connected trafficking defects to disrupted nephrin signaling.

    Evidence Biopsy immunolocalization, stable transfection, flow cytometry surface assays, phosphorylation and dominant-negative signaling assays

    PMID:30212551

    Open questions at the time
    • Downstream signaling effectors of the phosphorylated tail not identified
    • Single-lab analysis of two mutations
  11. 2019 Low

    Identification of an intronic mutation causing aberrant splicing extended the mutational spectrum of NPHS1 to splicing defects.

    Evidence RT-PCR/splicing analysis of patient-derived samples

    PMID:31443662

    Open questions at the time
    • Single patient, single lab without functional characterization of downstream protein consequences
    • Transcript fate and residual protein not quantified
  12. 2024 Medium

    Conditional Nphs1 knockout mice with foot process effacement, proteinuria, and early lethality provided direct in vivo confirmation that nephrin is required for filtration barrier integrity and glomerular function.

    Evidence Conditional knockout phenotyping with EM ultrastructure, urine albumin-to-creatinine ratio, and serum markers

    PMID:38482553

    Open questions at the time
    • Did not dissect structural versus signaling contributions in vivo
    • Mechanism connecting nephrin loss to foot process effacement not resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • The intracellular effectors recruited by phosphorylated nephrin and the precise molecular mechanism by which nephrin organizes the slit diaphragm and regulates TRPC6 remain undefined.
  • No identified downstream signaling partners of the nephrin cytoplasmic tail in the corpus
  • No structural model of the nephrin-based slit diaphragm
  • Molecular basis of TRPC6 suppression unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098631 cell adhesion mediator activity 3 GO:0098772 molecular function regulator activity 1
Localization
GO:0005886 plasma membrane 3 GO:0005783 endoplasmic reticulum 2
Pathway
R-HSA-1643685 Disease 3 R-HSA-162582 Signal Transduction 2
Partners
NPHS2TRPC6
Complex memberships
slit diaphragm

Evidence

Reading pass · 12 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1999 The NPHS1 gene encodes nephrin, a transmembrane protein expressed on podocytes. The gene consists of 29 exons spanning 26 kb on chromosome 19q13.1. Loss-of-function mutations (including the Finnish Fin-major 2-bp deletion in exon 2 and Fin-minor nonsense mutation in exon 26) cause congenital nephrotic syndrome of the Finnish type. Genomic structure analysis, direct exon sequencing, mutation characterization in 35 NPHS1 patients American journal of human genetics High 9915943
2000 Fin-major and Fin-minor mutations in NPHS1 both lead to complete absence of nephrin protein in podocytes and loss of podocyte slit diaphragms, while ZO-1 (another slit diaphragm-associated protein) stains normally. A patient with Fin-major/R743C genotype expressed nephrin, had normal slit diaphragms, and responded to therapy, establishing that nephrin is required for slit diaphragm formation. Immunohistochemistry, Western blotting, in situ hybridization, electron microscopy of nephrectomized kidneys from 46 Finnish NPHS1 patients Kidney international High 10972661
2001 Missense mutations in NPHS1 result in nephrin protein being retained in the endoplasmic reticulum (ER) and failing to reach the cell surface, indicating that defective intracellular nephrin transport (most likely due to misfolding) is the most common pathomechanism of missense mutations in NPHS1. Stable transfection of cells expressing 21 nephrin missense mutants, immunostaining, immunoelectron microscopy, subcellular fractionation Human molecular genetics High 11726550
2001 Recurrence of nephrotic syndrome after kidney transplantation in NPHS1 patients is caused by circulating autoantibodies against nephrin. Serial serum samples showed increased anti-nephrin antibody titers prior to nephrotic syndrome episodes and subsequent drops after successful treatment, with high-titer sera reacting with glomeruli in indirect immunofluorescence. Indirect immunofluorescence microscopy, immunoblotting, ELISA using serial serum samples from transplanted NPHS1 patients Experimental nephrology Medium 11549850
2000 An 8.3-kb fragment of the murine Nphs1 5' flanking region (promoter) drives podocyte-specific expression of a lacZ reporter transgene in kidneys, with additional expression in a discrete area of the brain medulla, establishing the Nphs1 promoter as a tool for podocyte-specific transgene expression. BAC clone identification, transgenic mouse generation with LacZ reporter, chemiluminescence assay, X-gal staining of tissue sections, developmental expression analysis Journal of the American Society of Nephrology : JASN Medium 11095653
2007 Anti-nephrin antibodies in NPHS1 patients homozygous for Fin-major mutation effectively impair glomerular filtration barrier function in kidney grafts, and plasma exchange alongside cyclophosphamide treatment reduces proteinuric episodes, further supporting the pathogenic role of anti-nephrin autoantibodies. ELISA for anti-nephrin antibodies, light microscopy and immunohistochemistry of kidney biopsies, clinical outcomes analysis of 65 NPHS1 patients with 77 transplants Transplantation Medium 17519780
2002 Genetic evidence for a functional inter-relationship between NPHS1 (nephrin) and NPHS2 (podocin) was established through identification of a unique di-genic inheritance pattern where compound mutations in both NPHS1 and NPHS2 ('tri-allelic hit') modify the disease phenotype from congenital nephrotic syndrome to congenital focal segmental glomerulosclerosis. Genetic epistasis analysis, direct sequencing of NPHS1 and NPHS2 in 41 non-Finnish CNF patients and additional patients with FSGS Human molecular genetics Medium 11854170
2015 Wild-type nephrin suppresses TRPC6 channel currents in HEK293 cells and podocytes, and synonymous NPHS1 polymorphisms (rs2285450, rs437168) abolish this suppressive effect, suggesting that nephrin normally limits TRPC6 activity and that NPHS1 variants can modify the penetrance of TRPC6 mutations. Patch-clamp electrophysiology in HEK293 cells and podocytes transfected with wild-type or variant TRPC6 and NPHS1 constructs American journal of transplantation Medium 26147534
2018 CNS-associated NPHS1 missense mutations A419T and C623F reduce nephrin surface expression, cause ER retention, impair nephrin tyrosine phosphorylation on its cytoplasmic tail, and exert dominant negative effects on wild-type nephrin signaling, revealing that extracellular domain missense mutations can disrupt intracellular nephrin signaling. Kidney biopsy immunolocalization, stable cell transfection, immunofluorescence, flow cytometry for surface expression, phosphorylation assays, dominant-negative signaling assays PloS one Medium 30212551
2013 Pathogenic NPHS1 mutations in Japanese patients impair trafficking of nephrin to the plasma membrane, confirmed by transient transfection assays comparing staining with and without detergent permeabilization (Triton X), consistent with the previously established ER-retention mechanism. Transient transfection, immunostaining with and without Triton X permeabilization, automated counting software Histology and histopathology Medium 24142548
2024 Nphs1 knockout mice (conditional) exhibit effacement of foot processes (mean FP density 1.0 vs. 2.0 FP/µm in controls), reduced filtration slit density, proteinuria within the first week of life, and median survival of 18 days, directly demonstrating that nephrin is required for structural integrity of the podocyte filtration barrier and normal glomerular function in vivo. Conditional Nphs1 knockout mouse model phenotyping: electron microscopy for foot process density and filtration slit density, urine albumin-to-creatinine ratio, serum albumin, BUN, creatinine American journal of physiology. Renal physiology Medium 38482553
2019 A novel intronic NPHS1 mutation (c.3286+5G>A) causes aberrant alternative splicing of NPHS1, establishing a splicing defect as a pathomechanism for congenital nephrotic syndrome in this patient. RT-PCR/splicing analysis of patient-derived samples to confirm aberrant splicing caused by the intronic mutation Italian journal of pediatrics Low 31443662

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 316 17371932
1999 Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. American journal of human genetics 303 9915943
2000 Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney international 213 10972661
2002 Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Human molecular genetics 200 11854170
2003 Constitutive activation of Rho proteins by CNF-1 influences tight junction structure and epithelial barrier function. Journal of cell science 172 12538773
2001 Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Human mutation 138 11317351
2001 Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Human molecular genetics 124 11726550
2001 Mutation of the gene encoding cytotoxic necrotizing factor type 1 (cnf(1)) attenuates the virulence of uropathogenic Escherichia coli. Infection and immunity 113 11349064
1990 Virulence factors of bacteraemic Escherichia coli with particular reference to production of cytotoxic necrotising factor (CNF) by P-fimbriate strains. Journal of medical microbiology 70 1968978
2010 Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 63 20172850
2005 Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney international 63 15780077
2000 Evaluation of a new tool for exploring podocyte biology: mouse Nphs1 5' flanking region drives LacZ expression in podocytes. Journal of the American Society of Nephrology : JASN 63 11095653
2008 Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 60 18503012
2020 Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney international 48 32554042
1998 Podocyte phenotypes as defined by expression and distribution of GLEPP1 in the developing glomerulus and in nephrotic glomeruli from MCD, CNF, and FSGS. A dedifferentiation hypothesis for the nephrotic syndrome. Experimental nephrology 46 9639039
2004 Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney international 45 15086927
2014 A review: potential usage of cellulose nanofibers (CNF) for enzyme immobilization via covalent interactions. Applied biochemistry and biotechnology 42 25427594
2004 No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatric nephrology (Berlin, Germany) 39 15338398
2012 A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. Gene 36 22565185
2009 Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. Clinical journal of the American Society of Nephrology : CJASN 34 19406966
2006 Glomerular sclerosis in kidneys with congenital nephrotic syndrome (NPHS1). Kidney international 33 16941028
2004 CNF and DNT. Reviews of physiology, biochemistry and pharmacology 33 15549605
2001 Recurrence of nephrotic syndrome after transplantation in CNF is due to autoantibodies to nephrin. Experimental nephrology 32 11549850
2019 Influence of Cellulose Charge on Bacteria Adhesion and Viability to PVAm/CNF/PVAm-Modified Cellulose Model Surfaces. Biomacromolecules 31 30901196
2019 Prevalence and pathologic effects of colibactin and cytotoxic necrotizing factor-1 (Cnf 1) in Escherichia coli: experimental and bioinformatics analyses. Gut pathogens 30 31139264
2020 Facile synthesis of a Co/Fe bi-MOFs/CNF membrane nanocomposite and its application in the degradation of tetrabromobisphenol A. Carbohydrate polymers 29 32829853
2007 Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1). Transplantation 29 17519780
2007 NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome. Pediatric research 28 17211152
2012 Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron. Clinical practice 25 22584503
2019 Effect of Cellulose Nanofiber (CNF) Surface Treatment on Cellular Structures and Mechanical Properties of Polypropylene/CNF Nanocomposite Foams via Core-Back Foam Injection Molding. Polymers 24 30960233
2017 Cytotoxic Escherichia coli strains encoding colibactin and cytotoxic necrotizing factor (CNF) colonize laboratory macaques. Gut pathogens 24 29225701
1993 Congenital nephrosis of the Finnish type (CNF): matrix components of the glomerular basement membranes and of cultured mesangial cells. The Histochemical journal 24 7693621
2015 Genetic Interactions Between TRPC6 and NPHS1 Variants Affect Posttransplant Risk of Recurrent Focal Segmental Glomerulosclerosis. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 22 26147534
1985 A randomized multicenter trial of cyclophosphamide, Novantrone and 5-fluorouracil (CNF) versus cyclophosphamide, Adriamycin and 5-fluorouracil (CAF) in patients with metastatic breast cancer. Investigational new drugs 19 3894279
2014 Lower prevalence of hlyD, papC and cnf-1 genes in ciprofloxacin-resistant uropathogenic Escherichia coli than their susceptible counterparts isolated from southern India. Journal of infection and public health 18 24861644
2007 Glomerular endothelium in kidneys with congenital nephrotic syndrome of the Finnish type (NPHS1). Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 18 18048423
2019 A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis. BMC medical genetics 17 31216994
2011 Messenger RNA expression of B7-1 and NPHS1 in urinary sediment could be useful to differentiate between minimal-change disease and focal segmental glomerulosclerosis in adult patients. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 17 21414970
2013 Glomerulopathy and mutations in NPHS1 and KIRREL2 in soft-coated Wheaten Terrier dogs. Mammalian genome : official journal of the International Mammalian Genome Society 16 23325127
2021 Crystal structure of bacterial cytotoxic necrotizing factor CNFY reveals molecular building blocks for intoxication. The EMBO journal 14 33410511
2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. Bosnian journal of basic medical sciences 13 24856380
2010 Association between genetic polymorphisms of the NPHS1 gene and membranous glomerulonephritis in the Taiwanese population. Clinica chimica acta; international journal of clinical chemistry 13 20138859
2007 Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community. Genetics in medicine : official journal of the American College of Medical Genetics 13 17413422
2005 Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). Pediatric nephrology (Berlin, Germany) 13 16362719
1996 Assembly of a 1-Mb restriction-mapped cosmid contig spanning the candidate region for Finnish congenital nephrosis (NPHS1) in 19q13.1. Genomics 13 8661053
2005 [NPHS1 mutations in a Chinese family with congenital nephrotic syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics 12 16316524
2003 Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy. Laboratory investigation; a journal of technical methods and pathology 12 12920248
1999 Effects on blood coagulation of adjuvant CNF (cyclophosphamide, novantrone, 5-fluorouracil) chemotherapy in stage II breast cancer patients. Anticancer research 12 10629646
2016 NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. Nephrology (Carlton, Vic.) 11 26560236
2024 Hydrophobic corn zein-modified cellulose nanofibril (CNF) films with antioxidant properties. Food chemistry 10 38943949
2019 Cellulose nanofiber (CNF)-sakacin-A active material: production, characterization and application in storage trials of smoked salmon. Journal of the science of food and agriculture 10 30924936
2018 Modular domain swapping among the bacterial cytotoxic necrotizing factor (CNF) family for efficient cargo delivery into mammalian cells. The Journal of biological chemistry 10 29371399
2016 Synthesis of Polyaniline (PANI) in Nano-Reaction Field of Cellulose Nanofiber (CNF), and Carbonization. Polymers 10 30979135
2011 Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. Genetics and molecular research : GMR 10 22009864
2023 Self-Assembled CNF/rGO/Tannin Composite: Study of the Physicochemical and Wound Healing Properties. Polymers 9 37376399
2018 Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. Frontiers in genetics 9 30013592
2009 NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 9 19321760
1992 [Virulence factors and phenotypes of sixty-one strains of Escherichia coli of bovine origin, producing cytotoxic necrotising toxin type 1 (CNF 1)]. Annales de recherches veterinaires. Annals of veterinary research 9 1510341
1990 Detection of cytotoxic necrotising factor (CNF) in extracts of Escherichia coli strains by enzyme-linked immunosorbent assay. Journal of medical microbiology 9 2192065
2022 Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. Molecular genetics and genomics : MGG 8 35278126
2020 Electrospun CNF Supported Ceramics as Electrochemical Catalysts for Water Splitting and Fuel Cell: A Review. Polymers 8 31963805
2018 Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling. PloS one 8 30212551
2015 Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome. Genetics and molecular research : GMR 8 25729976
2009 Prevalence of urovirulence genes cnf, hlyD, sfa/foc, and papGIII in fecal Escherichia coli from healthy dogs and their owners. American journal of veterinary research 8 19878023
2004 Molecular cloning and characterization of an endogenous antisense transcript of Nphs1. Genomics 8 15177566
2012 Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome. Genetics and molecular research : GMR 7 22653594
1993 Prenatal diagnosis of congenital nephrosis of the Finnish type (CNF) in the second trimester. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 7 7684711
2020 Spatio-temporal patterning of different connexins in developing and postnatal human kidneys and in nephrotic syndrome of the Finnish type (CNF). Scientific reports 6 32471989
2019 Fe3 SnC@CNF: A 3 D Antiperovskite Intermetallic Carbide System as a New Robust High-Capacity Lithium-Ion Battery Anode. ChemSusChem 6 31549796
2018 Enzyme treated CNF biofilms: Characterization. International journal of biological macromolecules 6 29859279
2006 Neonatal nephrotic presentation of a child with heterozygous NPHS1 mutation. Pediatric nephrology (Berlin, Germany) 6 16703378
2024 Characterization of MSC Growth, Differentiation, and EV Production in CNF Hydrogels Under Static and Dynamic Cultures in Hypoxic and Normoxic Conditions. Bioengineering (Basel, Switzerland) 5 39451425
2022 Design of a chimeric protein composed of FimH, FyuA and CNF-1 virulence factors from uropathogenic Escherichia coli and evaluation its biological activity and immunogenicity in vitro and in vivo. Microbial pathogenesis 5 36460143
2020 AuNPs/CNF-modified DNA biosensor for early and quick detection of O. tsutsugamushi in patients suffering from scrub typhus. 3 Biotech 5 33014689
2016 Congenital nephrotic syndrome with a novel NPHS1 mutation. Pediatrics international : official journal of the Japan Pediatric Society 5 27882743
2015 Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation. Pediatrics international : official journal of the Japan Pediatric Society 5 25711261
2012 Durability test with fuel starvation using a Pt/CNF catalyst in PEMFC. Nanoscale research letters 5 22221426
2022 The Distribution of Cytotoxic Necrotizing Factors (CNF-1, CNF-2, CNF-3) and Cytolethal Distending Toxins (CDT-1, CDT-2, CDT-3, CDT-4) in Escherichia coli Isolates Isolated from Extraintestinal Infections and the Determination of their Phylogenetic Relationship by PFGE. International journal of clinical practice 4 36474550
2015 Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. Iranian journal of kidney diseases 4 25599733
2010 Investigation into Photoconductivity in Single CNF/TiO(2)-Dye Core-Shell Nanowire Devices. Nanoscale research letters 4 20802786
2021 The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia. European journal of obstetrics, gynecology, and reproductive biology 3 34555552
2019 Enhanced photovoltaic properties of dye-sensitized solar cells using three-component CNF/TiO2/Au heterostructure. Journal of colloid and interface science 3 30738309
2018 Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. Pediatric nephrology (Berlin, Germany) 3 29663071
2018 Novel variations in NPHS1 gene in children of South Indian population and its association with primary nephrotic syndrome. Journal of cellular biochemistry 3 30171708
2009 Expanding the spectrum of NPHS1-associated disease. Kidney international 3 19946311
2025 The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases? Pediatric nephrology (Berlin, Germany) 2 40266336
2024 A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants. Case reports in nephrology 2 38444459
2024 Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies. American journal of physiology. Renal physiology 2 38482553
2024 Synthesis and Fabrication of Metal Cation Intercalation in Multilayered Ti3C2T Composite CNF Electrode for Asymmetric Coin Cell Supercapacitors. Langmuir : the ACS journal of surfaces and colloids 2 39365269
2023 A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report. Medicine 2 36800604
2023 Integrated enzyme hydrolysis assisted cellulose nanofibril (CNF) fabrication: A sustainable approach to paper mill sludge (PMS) management. Chemosphere 2 37220796
2021 A case report of congenital nephrotic syndrome caused by new mutations of NPHS1. The Journal of international medical research 2 34396835
2019 The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic? Medicina (Kaunas, Lithuania) 2 31013750
2019 Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation. Italian journal of pediatrics 2 31443662
2017 Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome. Case reports in genetics 2 28392951
2013 Hsf-1 affects podocyte markers NPHS1, NPHS2 and WT1 in a transgenic mouse model of TTRVal30Met-related amyloidosis. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2 23829269
2013 Does NPHS1 polymorphism modulate P118l mutation in NPHS2? Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2 24231487
2013 NPHS1 gene mutations in children with Nephrotic Syndrome in northwest Iran. Pakistan journal of biological sciences : PJBS 2 24498843
2023 Three Novel Heterozygous Mutations of NPHS1 Gene Causing Infants with Congenital Nephrotic Syndrome: Two Chinese (Han) Cases. Clinical laboratory 1 37560858
2013 Functional analysis of NPHS1 mutations in Japanese patients. Histology and histopathology 1 24142548

Missed literature

Know a paper Affinage missed for NPHS1? Flag it for the maintainers and the community.

No submissions yet.