Affinage

NPHP1

Nephrocystin-1 · UniProt O15259

Length
732 aa
Mass
83.3 kDa
Annotated
2026-06-10
63 papers in source corpus 17 papers cited in narrative 17 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

NPHP1 (nephrocystin-1) is a modular ciliary adaptor protein that localizes to the transition zone of primary and sensory cilia, where it acts as a gatekeeper of ciliary membrane composition and a hub coupling ciliary integrity to growth- and stress-signalling pathways (PMID:33961633, PMID:15817158). Its N-terminal coiled-coil folds into a monomeric antiparallel three-stranded coiled coil structurally akin to the BAG domain family and confers resistance to apoptotic stimuli in the full-length protein, providing a structural basis for its protein-interaction and pro-survival functions (PMID:31345020). At the photoreceptor transition zone NPHP1 prevents inner-segment plasma-membrane proteins (STX3, SNAP25, IMPG2) from infiltrating the outer segment, a barrier function that genetically interacts with Cep290, whose dosage governs the severity of retinal degeneration and the normal distribution of NPHP1 within the connecting cilium (PMID:33961633). Loss of NPHP1 disrupts ciliogenesis and ciliary phosphoinositide identity and unleashes a coordinated set of pro-cystic, pro-fibrotic programs: physical engagement of the Hippo kinases LATS1/2 normally restrains the pathway, and NPHP1 loss aberrantly activates Kibra-driven Hippo signalling (elevated p-MST1/2, p-LATS, p-YAP) to promote renal cyst formation and fibrosis, with Kibra knockdown reversing these phenotypes (PMID:40968381, PMID:39995111). In parallel, NPHP1 deficiency activates TGF-β/Smad signalling and epithelial-mesenchymal transition (PMID:34689106) and elevates the transcription factor ZONAB and its proliferative targets CCND1 and PCNA, driving tubular proliferation and cyst expansion (PMID:41354125). NPHP1 is also required in vivo for spermatid elongation and Sertoli-spermatid junction integrity, and a near-complete knockout mouse recapitulates renal cyst, retinal degeneration, and spermatogenesis defects that are partially rescued by Nphp1 re-expression, establishing loss-of-function causality across its multi-organ ciliopathy phenotype (PMID:18684731, PMID:34415307).

Mechanistic history

Synthesis pass · year-by-year structured walk · 9 steps
  1. 2005 Medium

    Established that NPHP1 is a transition-zone/ciliary-base protein acting redundantly with NPHP4 in ciliary sensory signal transduction, framing it as a ciliary functional module rather than a structural ciliary requirement.

    Evidence GFP-tagged localization and single/double-mutant behavioral genetics in C. elegans sensory neurons

    PMID:15817158

    Open questions at the time
    • Redundancy obscures NPHP1's specific molecular role
    • Did not identify the signal transduced or downstream effectors
    • Mammalian relevance inferred from orthology
  2. 2008 Medium

    Defined an unexpected non-renal requirement for NPHP1 in male fertility, showing its junction/adaptor function operates beyond cilia.

    Evidence Homologous-recombination Nphp1 knockout mouse with seminiferous tubule histology and sperm EM

    PMID:18684731

    Open questions at the time
    • Molecular basis of Sertoli-spermatid junction defect not resolved
    • No interacting partners identified at the junction
  3. 2019 High

    Provided the first structural insight, showing the N-terminal coiled coil is a monomeric BAG-domain-like fold required for anti-apoptotic activity, rationalizing NPHP1 as a protein-interaction adaptor with a survival function.

    Evidence NMR structure determination, solution biophysics, and anti-apoptosis functional assay with full-length protein

    PMID:31345020

    Open questions at the time
    • Binding partners of the coiled coil not mapped structurally
    • Mechanism linking the fold to apoptosis resistance unknown
  4. 2021 Medium

    Demonstrated NPHP1's transition-zone barrier function in photoreceptors and its genetic dependence on Cep290, explaining the retinal component of the ciliopathy.

    Evidence Nphp1 hypomorph gene-trap mouse, immunofluorescence for mislocalized membrane proteins, and Nphp1×Cep290 genetic epistasis

    PMID:33961633

    Open questions at the time
    • Molecular mechanism of the membrane-protein gate not defined
    • How CEP290 controls NPHP1 distribution unresolved
  5. 2021 Medium

    Linked NPHP1 loss to two pro-fibrotic/pro-cystic transcriptional programs (TGF-β/Smad-driven EMT) and confirmed multi-organ loss-of-function causality with in vivo rescue.

    Evidence shRNA/CRISPR knockout MDCK cells with Smad7 rescue; near-complete knockout mouse with AAV9 re-expression rescue

    PMID:34415307 PMID:34689106

    Open questions at the time
    • Direct molecular link between NPHP1 and TGF-β receptor/Smad machinery not established
    • Whether EMT is cilium-dependent unclear
  6. 2025 Medium

    Identified physical NPHP1-LATS1/2 binding and showed NPHP1 loss aberrantly activates Kibra-driven Hippo signalling to cause cyst and fibrosis, providing a direct signalling mechanism downstream of NPHP1 loss.

    Evidence Co-IP in iPSC kidney organoids and knockout cells/mice, siRNA epistasis, AAV9 Kibra knockdown rescue in vivo

    PMID:39995111 PMID:40968381

    Open questions at the time
    • Reciprocal validation and structural basis of the NPHP1-LATS interaction limited
    • How ciliary NPHP1 normally restrains Kibra/Hippo at the molecular level unknown
  7. 2025 Medium

    Showed NPHP1 loss elevates ZONAB and its proliferative targets CCND1/PCNA in cyst cells, defining a proliferative axis whose suppression blocks cystogenesis.

    Evidence nphp1 knockout mice and MDCK cells with ZONAB knockdown rescue, Western blotting and histology

    PMID:41354125

    Open questions at the time
    • Mechanism by which NPHP1 normally restrains ZONAB not defined
    • Relationship to Hippo and TGF-β axes not integrated
  8. 2025 Medium

    Extended NPHP1 function to a TMEM237-bridged Pyk2/ERK signalling axis in a cancer context, indicating NPHP1 can scaffold growth signalling beyond the kidney.

    Evidence Reciprocal Co-IP, IP-MS, reporter/ChIP, and gain/loss-of-function in hepatocellular carcinoma models in vitro and in vivo

    PMID:37041420

    Open questions at the time
    • Relevance to renal/ciliary NPHP1 function unclear
    • Whether TMEM237-NPHP1-Pyk2 operates at the cilium not addressed
  9. 2025 Low

    Used patient-derived and iPSC models to connect NPHP1 loss to ciliogenesis defects, aberrant cell-cycle/proliferation, EGFR signalling, and DNA damage response, and identified candidate pharmacological rescues.

    Evidence iPSC kidney organoids and patient urine-derived/tubular cells with transcriptomics and drug rescue (prostaglandins, Eupatilin, AG556); UVC time-course nuclear translocation assays (some preprint)

    PMID:33306870 PMID:38989059 PMID:40776899 PMID:bio_10.1101_2025.01.15.633139 PMID:bio_10.1101_2025.06.09.658557

    Open questions at the time
    • Nuclear DNA-damage role awaits peer review and independent replication
    • EGFR rescue is pharmacological without direct NPHP1-EGFR interaction evidence
    • Single-patient tissue findings (INPP5E mislocalization) not experimentally manipulated

Open questions

Synthesis pass · forward-looking unresolved questions
  • How a single transition-zone adaptor mechanistically integrates Hippo, TGF-β/Smad, ZONAB, EGFR, and DNA-damage responses, and whether these converge through ciliary signalling or independent scaffolding interactions, remains unresolved.
  • No unified model linking NPHP1's structural fold to its multiple signalling outputs
  • Direct partners for most pathways unmapped
  • Whether nuclear and ciliary pools of NPHP1 are functionally distinct unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 3 GO:0008092 cytoskeletal protein binding 1
Localization
GO:0005929 cilium 3 GO:0005634 nucleus 1
Pathway
R-HSA-162582 Signal Transduction 4 R-HSA-1852241 Organelle biogenesis and maintenance 2
Partners
CEP290LATS1LATS2NPHP4PYK2TMEM237
Complex memberships
ciliary transition zone

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2019 The N-terminal coiled-coil domain (NPHP1CC) of nephrocystin-1 folds into a monomeric left-handed antiparallel three-stranded coiled coil in solution, structurally similar to the BAG domain family, and is required for resistance to apoptotic stimuli in the context of the full-length protein. NMR structural determination, solution biophysics (monomeric state), functional anti-apoptosis assay with full-length protein ACS chemical biology High 31345020
2023 TMEM237 interacts with NPHP1 and strengthens the interaction between NPHP1 and Pyk2, triggering phosphorylation of Pyk2 and ERK1/2, thereby promoting hepatocellular carcinoma progression. Co-immunoprecipitation, IP-MS, luciferase reporter, ChIP, gain- and loss-of-function experiments in vitro and in vivo Cellular and molecular life sciences : CMLS Medium 37041420
2025 NPHP1 physically binds LATS1/2 (core Hippo pathway kinases), as demonstrated by co-immunoprecipitation in kidney organoids, and loss of NPHP1 activates the canonical Hippo pathway (elevated Kibra, p-MST1/2, p-LATS, p-YAP), leading to fibrosis. Co-immunoprecipitation in NPHP1-deficient iPSC-derived kidney organoids; siRNA knockdown epistasis; Hippo pathway inhibitor rescue Stem cell research & therapy Medium 40968381
2025 In nphp1 knockout MDCK cells and mice, Kibra and canonical Hippo pathway components (p-MST1/2, p-LATS, p-YAP) are aberrantly upregulated, and Kibra knockdown suppresses Hippo activation, inhibiting renal cyst formation and fibrosis; Nphp1 re-expression reverses Hippo pathway activation in cells. CRISPR knockout cells and mice, siRNA knockdown epistasis, AAV9-mediated Kibra knockdown in vivo, pathway component phosphorylation assays, histology Clinical and translational medicine Medium 39995111
2021 NPHP1 is required at the ciliary transition zone to prevent infiltration of inner segment plasma membrane proteins (STX3, SNAP25, IMPG2) into the outer segment during photoreceptor outer segment development; this requirement diminishes after outer segment elongation is complete. Genetic interaction with Cep290 was demonstrated: reduced Cep290 gene dose in Nphp1 mutant mice causes continued retinal degeneration into adulthood. Gene-trap mouse model (Nphp1 hypomorph), immunofluorescence for protein localization, genetic epistasis (Nphp1 × Cep290 double mutant), RT-PCR for splicing analysis PloS one Medium 33961633
2021 Loss of NPHP1 in MDCK cells activates the TGF-β/Smad signaling pathway (increased Smad2, Smad3, p-Smad3, Smad4; nuclear translocation of Smad3; decreased Smad7) and induces epithelial-mesenchymal transition (decreased E-cadherin and β-catenin; increased α-SMA and FSP1); overexpression of Smad7 reverses these changes. Lentiviral shRNA knockdown and CRISPR/Cas9 knockout in MDCK cells, Western blotting, immunofluorescence for Smad3 localization, Smad7 overexpression rescue Biochemical and biophysical research communications Medium 34689106
2021 NPHP1 deletion in a patient kidney results in loss of cilia in renal tubular cells and defective INPP5E localization to the primary cilium, suggesting NPHP1 is required for ciliary phosphoinositide composition in renal tubular cells. Immunohistochemistry and electron microscopy on resected patient kidney tissue Molecular genetics & genomic medicine Low 33306870
2008 Targeted disruption of Nphp1 in mice causes male infertility due to defects in spermatid elongation: spermatids detach from Sertoli cells and fail head and tail morphogenesis, demonstrating NPHP1 is required for differentiation of early elongating spermatids and maintenance of Sertoli-spermatid junctions. Homologous recombination knockout mouse, histology of seminiferous tubules, electron microscopy of sperm ultrastructure Human molecular genetics Medium 18684731
2021 A near-complete Nphp1 knockout mouse (exon 2-20 deletion) recapitulates renal cyst development, tubular basement membrane thickening, retinal degeneration, and abnormal spermatogenesis; AAV9-mediated re-expression of Nphp1 partially rescues both renal and retinal phenotypes, confirming loss-of-function causality. CRISPR/Cas9 knockout mouse, histology, AAV9 rescue experiment Human molecular genetics Medium 34415307
2005 C. elegans NPHP-1 (ortholog of NPHP1) and NPHP-4 localize to ciliated sensory endings of dendrites and colocalize with PKD-2 in male-specific sensory cilia. Single mutants have intact cilia, but nphp-1; nphp-4 double mutants are response-defective in male sensory behaviors, indicating redundant roles in facilitating ciliary sensory signal transduction. GFP-tagged protein localization in C. elegans neurons, genetic analysis of single and double mutants, behavioral assays Experimental cell research Medium 15817158
2025 Nephrocystin-1 dynamically translocates to the nucleus within 15 minutes of UVC light exposure in NPHP1 WT kidney organoids; NPHP1-depleted kidney organoids exhibit persistent inability to repair DNA lesions and increased senescence and fibrosis, establishing a direct role for nephrocystin-1 in the DNA damage response. CRISPR/Cas9 NPHP1 knockout iPSC-derived kidney organoids, subcellular fractionation/immunofluorescence time-course after UVC, DNA damage repair assays, senescence and fibrosis assays bioRxivpreprint Low bio_10.1101_2025.06.09.658557
2025 NPHP1-deficient human iPSC-derived neurons fail to adapt synaptic strength, intrinsic excitability, and ciliary morphology in response to prolonged activity suppression, and display dysregulated baseline network activity and blunted gene expression changes, establishing a role for NPHP1 in neuronal homeostatic plasticity. CRISPR/Cas9 NPHP1 knockout in human iPSC-derived neurons, electrophysiology, morphological analysis, transcriptomics bioRxivpreprint Low bio_10.1101_2025.08.27.672341
2025 In CEP290-null mouse photoreceptors, transition zone proteins AHI1 and NPHP1 are abnormally restricted to the proximal connecting cilium (rather than their normal distribution), while other transition zone proteins (NPHP8, CEP89) are unaffected, indicating that normal NPHP1 distribution within the transition zone depends on CEP290. Advanced microscopy (super-resolution/immunofluorescence) of CEP290 knockout mouse retina, comparison of multiple transition zone protein localizations bioRxivpreprint Low bio_10.1101_2025.01.20.633784
2025 In NPHP1-patient-derived kidney tubular cells, prostaglandin analogues rescue ciliogenesis defects; Eupatilin also partially rescues NPHP1-associated ciliogenesis defects, with transcriptomic analysis suggesting cell cycle inhibition as the mechanism. Phenotypic screening in patient-derived kidney tubular cells, transcriptomic analysis after Eupatilin treatment bioRxivpreprint Low bio_10.1101_2025.01.15.633139
2025 In NPHP1-null kidney organoids and nphp1KO MDCK cells, ZONAB expression is increased specifically in renal cyst cells, along with its targets CCND1 and PCNA; ZONAB knockdown inhibits renal cyst formation and tubular dilation and decreases CCND1 and PCNA expression. CRISPR nphp1KO mice, ZONAB knockdown (siRNA/shRNA), Western blotting, histology (H&E, Masson staining) Translational research : the journal of laboratory and clinical medicine Medium 41354125
2024 Loss of NPHP1 in hiPSC-derived kidney organoids leads to abnormalities in primary cilia and frequent renal cyst formation; transcriptome analysis reveals lower expression of genes related to primary cilia and higher expression of cell cycle genes; cyst formation is rescued by NPHP1 re-expression, linking aberrant proliferation to ciliary dysfunction caused by NPHP1 loss. Patient-derived and CRISPR-edited hiPSCs differentiated to kidney organoids, cyst formation assay with NPHP1 re-expression rescue, transcriptome analysis Frontiers in cell and developmental biology Medium 38989059
2025 In NPHP1-deficient patient urine-derived renal epithelial cells, bulk RNA-seq reveals altered EGFR signalling, extracellular components, and adherens junctions; EGFR kinase inhibitor AG556 rescues ciliary length and morphology and reverses the disease transcriptional signature more effectively than alprostadil. Bulk RNA-seq on patient hURECs, AG556 and alprostadil treatment with ciliary morphology readout and transcriptional profiling Journal of cell science Low 40776899

Source papers

Stage 0 corpus · 63 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1999 LOV (light, oxygen, or voltage) domains of the blue-light photoreceptor phototropin (nph1): binding sites for the chromophore flavin mononucleotide. Proceedings of the National Academy of Sciences of the United States of America 453 10411952
2004 The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. American journal of human genetics 201 15138899
1999 Stimulation of the blue light phototropic receptor NPH1 causes a transient increase in cytosolic Ca2+. Proceedings of the National Academy of Sciences of the United States of America 152 10557359
1998 A phytochrome from the fern Adiantum with features of the putative photoreceptor NPH1. Proceedings of the National Academy of Sciences of the United States of America 134 9861055
2007 High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. Journal of the American Society of Nephrology : JASN 130 17409309
2000 Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. American journal of human genetics 98 10712196
2018 NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD. Journal of the American Society of Nephrology : JASN 85 29654215
2014 Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. American journal of human genetics 71 24746959
1998 Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. American journal of kidney diseases : the official journal of the National Kidney Foundation 69 9856524
2008 Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. Human molecular genetics 68 18684731
2000 Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. The Journal of pediatrics 68 10839884
2005 Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors. Experimental cell research 45 15817158
2000 Rice NPH1 homologues, OsNPH1a and OsNPH1b, are differently photoregulated. Plant & cell physiology 39 10845454
1994 Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. Genomics 33 7806215
2007 DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. European journal of medical genetics 32 18054307
1998 Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 24 9794556
2011 Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion. Pediatric nephrology (Berlin, Germany) 23 21258817
1998 Construction of a gene map of the nephronophthisis type 1 (NPHP1) region on human chromosome 2q12-q13. Genomics 23 9479500
2015 Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS genetics 21 26641089
1996 Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13. Cytogenetics and cell genetics 20 8697815
1995 Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group. Genomics 20 7789968
2020 Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome. Molecular genetics & genomic medicine 17 33306870
2012 Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 17 22982934
2010 Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain. Seminars in pediatric neurology 17 20434703
2021 An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis. Human molecular genetics 16 34415307
1995 A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q. Genomics 16 8825638
2021 Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenance. PloS one 15 33961633
2000 A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints. Human mutation 15 10980528
2020 Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion. Stem cell research 11 32361464
2015 Identification of an NPHP1 deletion causing adult form of nephronophthisis. Irish journal of medical science 11 26037636
2014 Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series. Annals of general psychiatry 10 25126106
2023 HIF-1α-activated TMEM237 promotes hepatocellular carcinoma progression via the NPHP1/Pyk2/ERK pathway. Cellular and molecular life sciences : CMLS 9 37041420
2018 Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy. Human pathology 9 29949740
2021 Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report. BMC nephrology 8 34246230
2021 Overexpression of smad7 inhibits the TGF-β/Smad signaling pathway and EMT in NPHP1-defective MDCK cells. Biochemical and biophysical research communications 8 34689106
2013 Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 8 23683649
2024 Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation. Frontiers in cell and developmental biology 7 38989059
2023 A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project). Scientific reports 7 37296294
2017 QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions. Clinical chemistry and laboratory medicine 7 28002029
2017 Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders. BMC medical genetics 7 28347285
2021 NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. Kidney international 6 34153329
2019 Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family. BMC nephrology 5 31096956
2020 A case report of NPHP1 deletion in Chinese twins with nephronophthisis. BMC medical genetics 4 32306954
2019 The N-Terminal Domain of NPHP1 Folds into a Monomeric Left-Handed Antiparallel Three-Stranded Coiled Coil with Anti-apoptotic Function. ACS chemical biology 4 31345020
2019 Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. Acta clinica Belgica 4 31402777
1999 Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 4 10528654
2024 Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure. Journal of rare diseases (Berlin, Germany) 3 38433745
2023 Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9. Stem cell research 3 36842376
2022 Generation of NPHP1 knockout human pluripotent stem cells by a practical biallelic gene deletion strategy using CRISPR/Cas9 and ssODN. In vitro cellular & developmental biology. Animal 3 35165826
2019 PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion. Clinical case reports 3 30847201
2025 Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice. Clinical and translational medicine 2 39995111
2019 Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1. International journal of molecular epidemiology and genetics 2 31523374
2025 Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy. Journal of cell science 1 40776899
2025 iPSC-based drug discovery identified the Hippo signaling pathway as a therapeutic target in the fibrosis of NPHP1-deficient nephronophthisis. Stem cell research & therapy 1 40968381
2023 Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion. Clinical pediatrics 1 36942623
2023 Phenotype Spectrum in Tunisian Population with NPHP1 Deletion. Indian journal of nephrology 1 38174310
2022 Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1. Taiwanese journal of obstetrics & gynecology 1 36427971
2021 NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY. Retinal cases & brief reports 1 36913617
2025 ZONAB regulates renal cyst formation in nphp1 knockout mice. Translational research : the journal of laboratory and clinical medicine 0 41354125
2024 [C/EBPβ mediates expressions of downstream inflammatory factors of the tumor necrosis factor-α signaling pathway in renal tubular epithelial cells with NPHP1 knockdown]. Nan fang yi ke da xue xue bao = Journal of Southern Medical University 0 38293987
2023 A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor. Transplant immunology 0 36948406
2023 Two rare copy number variants involving loss of NPHP1, MALL, and MTLN genes contribute to nephronophthisis-induced nephropathy progression in a family: A case report. Nigerian journal of clinical practice 0 37203120
2018 [Identification of a new mutation of the NPHP1 gene]. Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia 0 29786190

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