| [C/EBPbeta mediates expressions of downstream inflammatory factors of the tumor necrosis factor-alpha signaling pathway in renal tubular epithelial cells with NPHP1 knockdown]. | [C/EBPβ mediates expressions of downstream inflammatory factors of the tumor necrosis factor-α signaling pathway in renal tubular epithelial cells with NPHP1 knockdown].
Huang D, Liu Y, Li D, Zhang J, Yang Y, Sun L., Free PMC Article | 02/8/2024 |
| Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion. | Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.
Tong H, Zhao F, Yang Y, Qiu X, Zhu L, Yu Z. | 12/1/2023 |
| Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis. | Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.
Abdelwahed M, Maaloul I, Benoit V, Hilbert P, Hachicha M, Kamoun H, Keskes-Ammar L, Belguith N. | 06/15/2023 |
| A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor. | A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.
Liu Y, Qiu T, Chen Z, Ma X, Wang T, Zhang Y, Kong C, Yu B, Guo J, Zhou J. | 05/24/2023 |
| An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis. | An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis.
Li D, Hu M, Chen H, Wu X, Wei X, Lin H, Gao X, Wang H, Li M, Ong ACM, Yue Z, Sun L. | 04/16/2022 |
| SENIOR-LOKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis. | SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Yahalom C, Volovelsky O, Macarov M, Altalbishi A, Alsweiti Y, Schneider N, Hanany M, Khan MI, Cremers FPM, Anteby I, Banin E, Sharon D, Khateb S. | 12/25/2021 |
| NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. | NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
Birtel J, Spital G, Book M, Habbig S, Bäumner S, Riehmer V, Beck BB, Rosenkranz D, Bolz HJ, Dahmer-Heath M, Herrmann P, König J, Charbel Issa P. | 11/6/2021 |
| Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis. | Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis.
Yue Z, Lin H, Li M, Wang H, Liu T, Hu M, Chen H, Tong H, Sun L. | 02/2/2021 |
| Homozygous full gene deletion of the NPHP1 gene was identified in a Chinese family with NPHP, which was the molecular pathogenic basis of this disorder. | A case report of NPHP1 deletion in Chinese twins with nephronophthisis.
Chen F, Dai L, Zhang J, Li F, Cheng J, Zhao J, Zhang B., Free PMC Article | 07/18/2020 |
| The genetic investigation revealed a novel homozygous nonsense mutation, p. E697X,37 and a novel homozygous missense mutation, p. F691 L, in the NPHP1 gene. His parents and fraternal twin harbored heterozygous mutations of the two loci and had no renal symptoms. His elder sister developed ESRD and died at 23 years of age. CONCLUSIONS: The report indicated that adult NPHP should be taken into consideration for adults with | 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.
Wang Y, Chen F, Wang J, Zhao Y, Liu F., Free PMC Article | 06/6/2020 |
| Report renal pathology in series of patients with nephronophthisis due to NPHP1 gene deletion. | Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy.
Larsen CP, Bonsib SM, Beggs ML, Wilson JD. | 10/26/2019 |
| we are the first to show in a large cohort that NPH due to NPHP1 homozygous full gene deletions has a prevalence of one in 200 patients (0.5%) in all adult-onset ESRD. | NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
Snoek R, van Setten J, Keating BJ, Israni AK, Jacobson PA, Oetting WS, Matas AJ, Mannon RB, Zhang Z, Zhang W, Hao K, Murphy B, Reindl-Schwaighofer R, Heinzl A, Oberbauer R, Viklicky O, Conlon PJ, Stapleton CP, Bakker SJL, Snieder H, Peters EDJ, van der Zwaag B, Knoers NVAM, de Borst MH, van Eerde AM., Free PMC Article | 09/14/2019 |
| Genetic screening of 6 patients with suspected NPHP causing chronic renal failure belonging to 6 families identified in 2/6 patients a deletion of exons 5-7-20 and in 4/6 patients an heterozygous deletion of exon 20 and an heterozygous deletion on exon 17 not yet described in literature. | [Identification of a new mutation of the NPHP1 gene].
La Russa A, Cifarelli RA, Perri A, Saracino A, Santarsia G, Bonofiglio R. | 06/22/2019 |
| Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons. | Identification of an NPHP1 deletion causing adult form of nephronophthisis.
Haghighi A, Savaj S, Haghighi-Kakhki H, Benoit V, Grisart B, Dahan K. | 03/18/2017 |
| Ocular motor apraxia (OMA) may present with extraocular manifestations (nephronophthisis and cerebellar vermis hypoplasia) and that OMA can be associated with NPHP1 mutations. | Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects.
Chan SC, Rayat J, Sauvé Y, MacDonald IM. | 02/25/2017 |
| dynamic genomic rearrangements occurred historically within the NPHP1 locus and generated SV haplotypes observed in the human population today, which may confer differential susceptibility to genomic instability and the NPHP1 deletion | Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.
Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR., Free PMC Article | 06/11/2016 |
| associated with male factor infertility | Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility.
Devi AN, Anil Kumar TR, Pillai SM, Jayakrishnan K, Kumar PG. | 05/14/2016 |
| We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort. | Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding.
Kang HG, Ahn YH, Kim JH, Ha IS, Yu YS, Park YH, Cheong HI. | 03/5/2016 |
| A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families in Iranian children with nephronophthisis. | Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.
Gheissari A, Harandavar M, Hildebrandt F, Braun DA, Sedghi M, Parsi N, Merrikhi A, Madihi Y, Aghamohammadi F., Free PMC Article | 01/16/2016 |
| These results suggest that NPHP1 mutations are probably rare primary causes of Bardet-Biedl syndrome that contribute to the mutational burden of the disorder. | Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N., Free PMC Article | 06/28/2014 |
| NPHP1 genetic testing is important to diagnose patients with nephronophthisis, familial juvenile disease. | Nephronophthisis cannot be detected by urinary screening program.
Hirano D, Fujinaga S, Ohtomo Y, Nishizaki N, Hara S, Murakami H, Yamaguchi Y, Hattori M, Ida H. | 03/22/2014 |
| Congenital ocular motor apraxia and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1. | Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
Deacon BS, Lowery RS, Phillips PH, Schaefer GB. | 12/21/2013 |
| Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian patients with clinical pictures of tubulo-interstitiel kidney disorder and chronic renal failure. | Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population.
Chaari I, Trabelsi M, Goucha R, Elaribi Y, Kharrat M, Guarguah T, Maazoul F, Chaabouni H, M'rad R. | 06/22/2013 |
| Report NPHP1 mutations in nephronophthisis and associated ciliopathies and Joubert syndrome-related disorders. | Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.
Soliman NA, Hildebrandt F, Otto EA, Nabhan MM, Allen SJ, Badr AM, Sheba M, Fadda S, Gawdat G, El-Kiky H., Free PMC Article | 12/8/2012 |
| Plk1 colocalizes with nephrocystin-1 and induces it's phosphorylation in the transition zone of primary cilia in epithelial cells. | The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1.
Seeger-Nukpezah T, Liebau MC, Höpker K, Lamkemeyer T, Benzing T, Golemis EA, Schermer B., Free PMC Article | 11/17/2012 |