Nephronophthisis-Related Ciliopathies. PMID: 27336129
NPHP4 variants are associated with pleiotropic heart malformations. PMID: 22550138
NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone. PMID: 25150219
NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway. PMID: 21555462
One novel ACOT7-NPHP4 fusion gene identified in one patient with acute lymphoblastic leukemia: a case report. PMID: 36316773
NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. PMID: 21078623
Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants. PMID: 31810733
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. PMID: 15776426
Ciliary transition zone proteins coordinate ciliary protein composition and ectosome shedding. PMID: 35810181
NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility. PMID: 23574405
The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells. PMID: 26644512
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. PMID: 29146700
Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons. PMID: 22825473
A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. PMID: 18687878
Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene. PMID: 14750102
The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population: the Takahata study. PMID: 20844548
Diverse phenotypic expression of NPHP4 mutations in four siblings. PMID: 25818963
Effect of splice-site polymorphisms of the TMPRSS4, NPHP4 and ORCTL4 genes on their mRNA expression. PMID: 16131712
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4. PMID: 36990420
Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. PMID: 17954299
Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes. PMID: 34850872
Resolving Genetic Test Results for the Patient and the Clinician. PMID: 27639845
Jade-1: its structure, regulation and functions in the renal cancer. PMID: 26695694
Clock genes rescue nphp mutations in zebrafish. PMID: 35861640
Inversin, Wnt signaling and primary cilia. PMID: 22206729
Nephronophthisis: disease mechanisms of a ciliopathy. PMID: 19118152
Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2. PMID: 32647738
Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish. PMID: 21596840
Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study. PMID: 34591160
KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling. PMID: 28134340
Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. PMID: 20301743
Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia. PMID: 21357692
Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis. PMID: 34013113
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. PMID: 36090483
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis. PMID: 33512896
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. PMID: 36533556
MKS-NPHP module proteins control ciliary shedding at the transition zone. PMID: 32163404
[Congenital disorders of renal tubulointerstitial tissue]. PMID: 21688485
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease. PMID: 12832729
Targeting of ASH Domain-Containing Proteins to the Centrosome. PMID: 27514913
Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. PMID: 20664800
RPGRIP1L helps to establish the ciliary gate for entry of proteins. PMID: 30237221
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. PMID: 11920287
Partially Redundant Actin Genes in Chlamydomonas Control Transition Zone Organization and Flagellum-Directed Traffic. PMID: 31116988
[Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy]. PMID: 36924516
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis. PMID: 34435324
Cell type-specific regulation of ciliary transition zone assembly in vertebrates. PMID: 29650680
Clinical and genetic characteristics of Japanese nephronophthisis patients. PMID: 26499951
Disease mechanisms and neuroprotection by tauroursodeoxycholic acid in Rpgr knockout mice. PMID: 30924157
[Nephronophthisis (NPH): Pathogenesis, pathophysiology, and therapy]. PMID: 16523955
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. PMID: 16339905
The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signaling. PMID: 22654112
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. PMID: 12244321
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. PMID: 12205563
Evidence of oligogenic inheritance in nephronophthisis. PMID: 17855640
Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies. PMID: 34675960
Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds. PMID: 23998563
Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses. PMID: 36789878
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. PMID: 27486776
Paraneoplastic focal segmental glomerulosclerosis associated with gastrointestinal stromal tumor with cutaneous metastasis: A case report. PMID: 34621870
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. PMID: 35137054
Anks3 interacts with nephronophthisis proteins and is required for normal renal development. PMID: 25671767
Ciliary proteins specify the cell inflammatory response by tuning NFκB signalling, independently of primary cilia. PMID: 32503942
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. PMID: 21866095
Renal histology and MRI in a 25-year-old Japanese man with nephronophthisis 4
. PMID: 29162218
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. PMID: 28392475
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. PMID: 26595381
Casein kinase 1 α phosphorylates the Wnt regulator Jade-1 and modulates its activity. PMID: 25100726
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. PMID: 26936822
Characterization of a recurrent t(1;2)(p36;p24) in human uterine leiomyoma. PMID: 19602464
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. PMID: 24689075
Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6. PMID: 19755384
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PMID: 26540106
Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. PMID: 22927466
DNA methylation profiling distinguishes histological subtypes of renal cell carcinoma. PMID: 23428843
CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation. PMID: 20519441
Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros. PMID: 21498478
Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. PMID: 20150540
Protein Interaction Analysis Provides a Map of the Spatial and Temporal Organization of the Ciliary Gating Zone. PMID: 28736169
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. PMID: 18337471
Wnt5a regulates the expression of developmental genes in the adult retina following optic nerve crush injury., PMID:40079114
Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis., PMID:39098869
Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis-4., PMID:38895833
Human Genetics of Defects of Situs., PMID:38884744
Ciliary intrinsic mechanisms regulate dynamic ciliary extracellular vesicle release from sensory neurons., PMID:38838665
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease., PMID:38184646
Genome-wide association analysis reveals the associations of NPHP4, TYW1-AUTS2 and SEMA6D for Behçet's disease and HLA-B*46:01 for its intestinal involvement., PMID:37977914
Ciliary intrinsic mechanisms regulate dynamic ciliary extracellular vesicle release from sensory neurons., PMID:37961114
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4., PMID:37916190
A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella., PMID:37831349
RPI-1 (human DCDC2) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in C. elegans., PMID:37529113
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4., PMID:36990420
[Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy]., PMID:36924516
Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses., PMID:36789878
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants., PMID:36533556
One novel ACOT7-NPHP4 fusion gene identified in one patient with acute lymphoblastic leukemia: a case report., PMID:36316773
Clock genes rescue nphp mutations in zebrafish., PMID:35861640
Ciliary transition zone proteins coordinate ciliary protein composition and ectosome shedding., PMID:35810181
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies., PMID:35137054
Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes., PMID:34850872
Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study., PMID:34591160
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis., PMID:34435324
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis., PMID:33512896
Ciliary proteins specify the cell inflammatory response by tuning NFκB signalling, independently of primary cilia., PMID:32503942
MKS-NPHP module proteins control ciliary shedding at the transition zone., PMID:32163404
Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants., PMID:31810733
Partially Redundant Actin Genes in Chlamydomonas Control Transition Zone Organization and Flagellum-Directed Traffic., PMID:31116988
Disease mechanisms and neuroprotection by tauroursodeoxycholic acid in Rpgr knockout mice., PMID:30924157
RPGRIP1L helps to establish the ciliary gate for entry of proteins., PMID:30237221
New Insights into Cystic Kidney Diseases., PMID:29734148
Cell type-specific regulation of ciliary transition zone assembly in vertebrates., PMID:29650680
Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease., PMID:29520754
Development of a Rapid Salivary Proteomic Platform for Oral Feeding Readiness in the Preterm Newborn., PMID:29312906
Renal histology and MRI in a 25-year-old Japanese man with nephronophthisis 4
., PMID:29162218
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies., PMID:29146700
Protein Interaction Analysis Provides a Map of the Spatial and Temporal Organization of the Ciliary Gating Zone., PMID:28736169
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance., PMID:28392475
KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling., PMID:28134340
Resolving Genetic Test Results for the Patient and the Clinician., PMID:27639845
Targeting of ASH Domain-Containing Proteins to the Centrosome., PMID:27514913
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome., PMID:27486776
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR., PMID:26936822
A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4., PMID:26863025
Jade-1: its structure, regulation and functions in the renal cancer., PMID:26695694
The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells., PMID:26644512
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome., PMID:26595381
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling., PMID:26540106
Clinical and genetic characteristics of Japanese nephronophthisis patients., PMID:26499951
Diverse phenotypic expression of NPHP4 mutations in four siblings., PMID:25818963
For research use only. Not for human or drug use.
