Affinage

NPHS1

Nephrin · UniProt O60500

Length
1241 aa
Mass
134.7 kDa
Annotated
2026-04-29
100 papers in source corpus 13 papers cited in narrative 13 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

NPHS1 encodes nephrin, a podocyte-expressed transmembrane protein that serves as the principal structural and signaling component of the glomerular slit diaphragm, essential for maintaining the kidney filtration barrier. Truncating mutations (e.g., Fin-major, Fin-minor) abolish nephrin protein expression and slit diaphragm formation, causing massive proteinuria characteristic of congenital nephrotic syndrome of the Finnish type, while most missense mutations cause endoplasmic reticulum retention and defective plasma membrane trafficking, with some extracellular domain mutations additionally impairing tyrosine phosphorylation and exerting dominant-negative effects on wild-type nephrin signaling (PMID:9915943, PMID:10972661, PMID:11726550, PMID:30212551). Nphs1 knockout mice confirm that nephrin is required for podocyte foot process architecture, filtration slit density, and prevention of proteinuria (PMID:38482553). Nephrin also functions as a signaling scaffold that suppresses TRPC6 calcium channel activity in podocytes, and after transplantation in nephrin-null patients, it acts as a neoantigen whose targeting by autoantibodies causes graft nephrotic syndrome (PMID:26147534, PMID:11549850).

Mechanistic history

Synthesis pass · year-by-year structured walk · 8 steps
  1. 1999 High

    Positional cloning of NPHS1 resolved the molecular identity of the gene mutated in congenital nephrotic syndrome of the Finnish type, establishing nephrin as a transmembrane protein and the first defined slit diaphragm component.

    Evidence Genomic structure analysis and direct exon sequencing of 35 CNF patients identifying Fin-major, Fin-minor, and 32 novel mutations

    PMID:9915943

    Open questions at the time
    • Nephrin protein localization and function at the slit diaphragm not yet demonstrated
    • Mechanism by which specific mutations cause disease not addressed
  2. 2000 High

    Protein-level analysis demonstrated that truncating NPHS1 mutations abolish nephrin expression and slit diaphragm formation, while a missense allele preserves both, establishing nephrin as the principal structural component of the slit diaphragm.

    Evidence Immunohistochemistry, Western blot, in situ hybridization, and electron microscopy on nephrectomized kidneys from 46 Finnish NPHS1 patients with defined genotypes

    PMID:10972661

    Open questions at the time
    • Mechanism of missense mutation pathogenicity unknown
    • Whether nephrin has signaling functions beyond structural role not tested
  3. 2001 High

    Systematic analysis of 21 missense mutants revealed that ER retention due to misfolding is the predominant pathomechanism, shifting understanding from simple loss of expression to a protein quality control defect.

    Evidence Immunostaining of stable cell lines, immunoelectron microscopy, and subcellular fractionation for 21 NPHS1 missense mutants

    PMID:11726550

    Open questions at the time
    • Whether ER-retained mutants can be pharmacologically rescued not tested
    • Whether some mutants reach the surface but are non-functional not fully resolved
  4. 2001 High

    The discovery that anti-nephrin autoantibodies cause post-transplant nephrotic syndrome recurrence in CNF patients established that nephrin is a functional neoantigen and that antibody-mediated targeting of nephrin directly impairs glomerular filtration.

    Evidence Indirect immunofluorescence, immunoblotting, and serial ELISA of serum samples in transplanted NPHS1 patients with temporal correlation to nephrotic episodes

    PMID:11549850

    Open questions at the time
    • Precise mechanism by which anti-nephrin antibodies disrupt filtration barrier not defined
    • Whether antibodies cause complement-mediated injury vs. direct functional blockade unclear
  5. 2002 Medium

    Demonstration of digenic inheritance between NPHS1 and NPHS2 (podocin) mutations revealed epistatic interaction between slit diaphragm components, modifying disease phenotype from CNS to FSGS.

    Evidence Mutational analysis of NPHS1 and NPHS2 with genotype-phenotype correlation in 50 patients

    PMID:11854170

    Open questions at the time
    • Biochemical basis of nephrin-podocin epistasis not characterized
    • Not independently replicated in a separate cohort
    • Whether other slit diaphragm genes contribute to oligogenic inheritance not tested
  6. 2015 Medium

    Electrophysiology demonstrated that nephrin suppresses TRPC6 channel currents, establishing a signaling function for nephrin in regulating podocyte calcium homeostasis beyond its structural role.

    Evidence Patch-clamp recordings in HEK293 cells and podocytes co-transfected with TRPC6 and NPHS1 constructs

    PMID:26147534

    Open questions at the time
    • Whether nephrin-TRPC6 interaction is direct or mediated through adaptor proteins not determined
    • In vivo relevance of this channel regulation not tested
    • Mechanism by which the synonymous c.294C>T variant alters nephrin function unclear
  7. 2018 High

    CNS-associated extracellular domain missense mutations were shown to reduce surface expression, impair tyrosine phosphorylation, and exert dominant-negative effects on wild-type nephrin, demonstrating that nephrin functions as a tyrosine-phosphorylated signaling scaffold.

    Evidence Cell surface expression assays, phosphorylation assays, and dominant-negative co-transfection experiments for A419T and C623F mutants

    PMID:30212551

    Open questions at the time
    • Identity of the kinase(s) and downstream effectors of nephrin phosphorylation in this context not identified
    • Whether dominant-negative effects occur in vivo in heterozygous carriers unknown
  8. 2024 High

    Conditional Nphs1 knockout mice provided definitive in vivo proof that nephrin is essential for foot process architecture and filtration barrier integrity, quantifying the structural and functional consequences of nephrin loss.

    Evidence Conditional Nphs1 KO mice with quantitative EM foot process measurements, urine albumin-to-creatinine ratio, and serum biochemistry

    PMID:38482553

    Open questions at the time
    • Whether adult conditional deletion reproduces neonatal phenotype not reported
    • Signaling pathways downstream of nephrin loss in vivo not dissected

Open questions

Synthesis pass · forward-looking unresolved questions
  • The precise mechanism by which nephrin organizes the slit diaphragm at a structural level, its full signaling interactome downstream of tyrosine phosphorylation, and whether ER-retained mutants can be pharmacologically rescued remain unresolved.
  • No high-resolution structural model of the nephrin ectodomain trans-interaction at the slit diaphragm
  • Full phospho-signaling cascade downstream of nephrin remains unmapped
  • Pharmacological chaperone rescue of ER-retained nephrin mutants not demonstrated

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 2 GO:0098772 molecular function regulator activity 2
Localization
GO:0005886 plasma membrane 5 GO:0005783 endoplasmic reticulum 3
Pathway
R-HSA-162582 Signal Transduction 2
Partners
NPHS2TRPC6

Evidence

Reading pass · 13 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 podocyte cell surfaces; the two common Finnish mutations (Fin-major: 2-bp deletion in exon 2; Fin-minor: nonsense mutation in exon 26) and 32 additional novel mutations were identified in the nephrin gene, establishing nephrin as the structural protein mutated in congenital nephrotic syndrome of the Finnish type. Genomic structure analysis, direct exon sequencing, mutation screening of 35 NPHS1 patients American journal of human genetics High 9915943
2000 The Fin-major and Fin-minor mutations in NPHS1 both result in complete absence of nephrin protein and absence of podocyte slit diaphragms, whereas a patient with the Fin-major/R743C genotype expressed nephrin and had normal slit diaphragms, establishing that nephrin is the principal structural component of the slit diaphragm required for its formation. Immunohistochemistry, Western blotting, in situ hybridization, electron microscopy of nephrectomized kidneys from 46 Finnish NPHS1 patients Kidney international High 10972661
2001 Most missense mutations in NPHS1 cause nephrin to be retained in the endoplasmic reticulum and prevent cell surface localization, indicating that ER retention due to protein misfolding is the predominant pathomechanism of missense mutations. Immunostaining of stable transfected cell lines expressing 21 different nephrin missense mutants, immunoelectron microscopy, subcellular fractionation Human molecular genetics High 11726550
2001 Recurrence of nephrotic syndrome after renal transplantation in CNF/NPHS1 patients is caused by autoantibodies against nephrin; increased serum anti-nephrin antibody titers precede nephrotic episodes and drop after successful treatment, demonstrating that nephrin functions as a neoantigen post-transplant and that anti-nephrin antibodies impair glomerular filtration. Indirect immunofluorescence microscopy, immunoblotting, ELISA assay of serial serum samples before and after recurrence of nephrotic syndrome Experimental nephrology High 11549850
2002 NPHS1 (nephrin) and NPHS2 (podocin) have a functional inter-relationship in glomerular filtration; digenic inheritance of mutations in both genes results in a 'tri-allelic hit' that modifies the disease phenotype from congenital nephrotic syndrome to congenital focal segmental glomerulosclerosis, demonstrating epistatic interaction between these two slit diaphragm proteins. Mutational analysis of NPHS1 and NPHS2 in 50 patients with genotype/phenotype correlation analysis Human molecular genetics Medium 11854170
2000 The mouse Nphs1 5' flanking region (8.3-kb and 5.4-kb fragments) drives podocyte-specific transgene expression in vivo, with beta-galactosidase activity confined to podocyte nuclei in kidneys and a discrete brain region, establishing these sequences as functional podocyte-specific promoter/enhancer elements. BAC clone characterization, transgenic mouse lacZ reporter assay, X-gal staining of kidney sections, chemiluminescence assay Journal of the American Society of Nephrology : JASN High 11095653
2004 An endogenous antisense transcript (Nphs1as) originating from the nephrin-encoding locus spans Nphs1 exons 7-12 in reverse orientation and is expressed in brain, thymus, and peripheral lymph nodes but not in kidney or pancreas (major nephrin expression sites), suggesting a role for Nphs1as in tissue-specific regulation of nephrin expression. Molecular cloning of antisense transcript, RT-PCR, immunoblotting, analysis of nephrin-deficient mouse line generated by insertional mutagenesis Genomics Medium 15177566
2007 Anti-nephrin antibodies in NPHS1 patients homozygous for Fin-major mutation (who lack endogenous nephrin expression) effectively impair glomerular function in kidney grafts; plasma exchange alongside cyclophosphamide is effective in treating these antibody-mediated recurrences, confirming nephrin as a functional target of these autoantibodies. ELISA for serum anti-nephrin antibodies, kidney biopsy immunohistochemistry, clinical outcomes analysis in 65 NPHS1 transplant patients Transplantation Medium 17519780
2015 Wild-type nephrin suppresses TRPC6 channel current amplitudes in HEK293 cells and podocytes, but this suppression is lost with the NPHS1 c.294C>T synonymous polymorphism, demonstrating that nephrin physically or functionally interacts with TRPC6 to regulate calcium channel activity in podocytes. Patch-clamp electrophysiology in HEK293 cells and podocytes transfected with TRPC6 and NPHS1 constructs with different genotypes American journal of transplantation Medium 26147534
2018 CNS-associated NPHS1 missense mutations (A419T and C623F) in the nephrin extracellular region reduce surface expression, cause ER retention, impair nephrin tyrosine phosphorylation, and exert dominant negative effects on wild-type nephrin signaling, revealing that extracellular domain mutations can disrupt nephrin's function as a signaling scaffold. Kidney biopsy localization analysis, cell surface expression assays in cultured cells, phosphorylation assays, dominant negative co-transfection experiments PloS one High 30212551
2013 All pathogenic NPHS1 mutations identified in Japanese patients impaired nephrin trafficking to the plasma membrane, confirmed using transient transfection with immunostaining with and without detergent permeabilization to distinguish membrane from intracellular protein. Transient transfection, immunostaining with/without Triton X permeabilization, automated cell counting Histology and histopathology Medium 24142548
2024 Nphs1 knockout mice exhibit foot process effacement (average FP density 1.0 vs 2.0 FP/µm in controls), reduced filtration slit density (2.64 vs 4.36 µm/µm²), proximal tubular microcysts, proteinuria within the first week of life, and hypoalbuminemia, confirming nephrin is essential for normal podocyte foot process architecture and glomerular filtration barrier integrity. Conditional Nphs1 knockout mouse model, electron microscopy foot process density measurement, urine albumin-to-creatinine ratio, serum albumin/BUN/creatinine levels American journal of physiology. Renal physiology High 38482553
2019 An intronic NPHS1 mutation (c.3286+5G>A) causes defective alternative splicing of NPHS1, identifying a splice-site dependent mechanism of disease in congenital nephrotic syndrome. Functional splicing analysis of the intronic mutation in patient-derived samples Italian journal of pediatrics Medium 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 313 17371932
1999 Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. American journal of human genetics 302 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 137 11317351
2001 Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Human molecular genetics 123 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 62 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 46 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 33 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
2019 Influence of Cellulose Charge on Bacteria Adhesion and Viability to PVAm/CNF/PVAm-Modified Cellulose Model Surfaces. Biomacromolecules 30 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
2001 Recurrence of nephrotic syndrome after transplantation in CNF is due to autoantibodies to nephrin. Experimental nephrology 30 11549850
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
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
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 17 18048423
2019 A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis. BMC medical genetics 16 31216994
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
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
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 12 24856380
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
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
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
2019 Fe3 SnC@CNF: A 3 D Antiperovskite Intermetallic Carbide System as a New Robust High-Capacity Lithium-Ion Battery Anode. ChemSusChem 5 31549796
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
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) 4 39451425
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
2012 Durability test with fuel starvation using a Pt/CNF catalyst in PEMFC. Nanoscale research letters 4 22221426
2010 Investigation into Photoconductivity in Single CNF/TiO(2)-Dye Core-Shell Nanowire Devices. Nanoscale research letters 4 20802786
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
2021 The association of NPHS1 and ACNT4 gene polymorphisms with pre-eclampsia. European journal of obstetrics, gynecology, and reproductive biology 2 34555552
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
2021 Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a NPHS1 variant: A case report. Biomedical reports 1 34900253
2013 Functional analysis of NPHS1 mutations in Japanese patients. Histology and histopathology 1 24142548