Defective INPP5E distribution in NPHP1-related Senior–Loken syndrome [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Senior–Loken syndrome is a rare genetic disorder that presents with nephronophthisis and retinal degeneration, leading to end‐stage renal disease and progressive blindness.
Yang Sun, Yang Sun, Ke Ning
exaly +5 more sources
Differential requirement of NPHP1 for compartmentalized protein localization during photoreceptor outer segment development and maintenance [PDF]
PLoS ONE, 2021 Nephrocystin (NPHP1) is a ciliary transition zone protein and its ablation causes nephronophthisis (NPHP) with partially penetrant retinal dystrophy. However, the precise requirements of NPHP1 in photoreceptors are not well understood.
Seongjin Seo, Poppy Datta
exaly +6 more sources
Clinical Case Reports (discontinued), 2023 Key Clinical Message Our case report and review contribute to the understanding of ocular manifestations in NPHP1 ciliopathies by reinforcing the relationship between pathogenic genetic variants and a wide array of ophthalmic abnormalities.
Natario Couser, Shivania Reddy
exaly +5 more sources
Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates [PDF]
PLoS Genetics, 2015 Many loci in the human genome harbor complex genomic structures that can result in susceptibility to genomic rearrangements leading to various genomic disorders.
Bo Yuan +2 more
exaly +3 more sources
Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis [PDF]
Molecular Genetics & Genomic MedicineBackground Sitosterolemia (STSL) is a rare autosomal recessive disorder caused by mutations in ABCG5 or ABCG8, characterized by hemolytic anemia, xanthomas, and atherosclerosis.
Dan Ding +4 more
doaj +3 more sources
iPSC-based drug discovery identified the Hippo signaling pathway as a therapeutic target in the fibrosis of NPHP1-deficient nephronophthisis [PDF]
Stem Cell Research and TherapyBackground Nephronophthisis (NPH) is an autosomal recessive kidney disease, and NPHP1 is the most frequently affected gene. Tubulointerstitial fibrosis is the major phenotype of NPHP1-deficient NPH.
Eisei Sohara +2 more
exaly +3 more sources
Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice [PDF]
Clinical and Translational MedicineIntroduction Nephronophthisis (NPH) is an autosomal recessive interstitial cystic kidney disease, which is the most common genetic cause of end‐stage renal disease (ESRD) in childhood.
Yichen Yang +9 more
doaj +3 more sources
Case Report: A renal wasting disease caused by a pure deletion of nephrocystin-1 [PDF]
Frontiers in PediatricsNephronophthisis is an autosomal recessive disorder associated with the tubular interstitium of the kidney, and can lead to renal failure in children and adolescents.
Ting Dong +6 more
doaj +2 more sources
Spatiotemporal dynamics of renal distal convoluted tubule dilatation and cyst formation in nephronophthisis type 1 mice [PDF]
Renal FailureNephronophthisis (NPH), a rare but serious ciliopathy, is the predominant genetic cause of end-stage kidney disease (ESKD) in children and adolescents. Renal tubular dilatation and cyst formation are key pathological features of NPH.
Weina Zhang +9 more
doaj +2 more sources
Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria [PDF]
Renal FailureWhile nephronophthisis (NPHP) classically manifests as mild tubular proteinuria, emerging evidence reports nephrotic-range proteinuria with edema. This study aims to explore the phenotypes and genotypes of pediatric NPHP patients with different levels of
Qiuxia Chen +6 more
doaj +2 more sources