Results 11 to 20 of about 1,877 (178)

Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation [PDF]

Frontiers in Cell and Developmental Biology
Juvenile nephronophthisis is an inherited renal ciliopathy with cystic kidney disease, renal fibrosis, and end-stage renal failure in children and young adults.
Yutaka Arai, Yutaka Arai, Hidenori Ito, Tomoya Shimizu, Tomoya Shimizu, Yuzuno Shimoda, Yuzuno Shimoda, Dan Song, Mami Matsuo-Takasaki, Tadayoshi Hayata, Yohei Hayashi, Yohei Hayashi   +11 more
doaj   +4 more sources

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: A single center experience

Saudi Journal of Kidney Diseases and Transplantation, 2012
Nephronophthisis (NPHP) is a recessive disorder of the kidney that is the leading genetic cause of end-stage renal failure in children. Egypt is a country with a high rate of consan-guineous marriages; yet, only a few studies have investigated the ...
Neveen A Soliman, Friedhelm Hildebrandt, Edgar A Otto, Marwa M Nabhan, Susan J Allen, Ahmed M Badr, Maha Sheba, Sawsan Fadda, Ghada Gawdat, Hassan El-Kiky   +9 more
doaj   +4 more sources

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, 2023
Autosomal recessive whole gene deletions of nephrocystin-1 (NPHP1) result in abnormal structure and function of the primary cilia. These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior–Løken ...
Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis   +8 more
doaj   +3 more sources

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy. [PDF]

J Cell Sci
ABSTRACT Nephronophthisis (NPHP) is a recessive tubulointerstitial nephropathy and a leading genetic cause of kidney failure in children and young adults. The most common genetic cause is a homozygous deletion of NPHP1, which encodes nephrocystin-1, a protein essential for primary cilium structure and cell junctions.
Sudhindar PD, Olinger E, Sentell ZT, Mabillard H, Dicka B, Wood K, Rutland D, Collins C, Trevisan-Herraz M, Sayer JA, Arcila-Galvis JE.   +10 more
europepmc   +4 more sources

A case report of NPHP1 deletion in Chinese twins with nephronophthisis [PDF]

BMC Medical Genetics, 2020
Background Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life.
Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao, Bo Zhang   +6 more
doaj   +3 more sources

An Nphp1 knockout mouse model targeting exon 2–20 demonstrates characteristic phenotypes of human nephronophthisis [PDF]

Human Molecular Genetics, 2021
Abstract Nephronophthisis (NPH) is the most prevalent monogenetic disorder leading to end-stage renal failure (ESRD) in childhood. Mutations in Nphp1, encoding a cilia-localized protein, account for the majority of NPH cases. Despite its identification many years ago, Nphp1 deletions targeting exon 4 or exon 20 have not reproduced the ...
Li, D., Hu, M., Chen, H., Wu, X., Wei, X., Lin, H., Gao, X., Wang, H., Li, M., Ong, A.C.M., Yue, Z., Sun, L.   +11 more
openaire   +4 more sources

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders [PDF]

Journal of Medical Genetics, 2005
Joubert syndrome (JS) is an autosomal recessive disorder presenting with congenital hypotonia evolving into ataxia, developmental delay, and either oculomotor apraxia or abnormalities of respiratory pattern or both. JS is characterised, using magnetic resonance imaging (MRI), by cerebellar vermian hypoplasia and a complex brain stem malformation called
Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dalla Piccola B, Bertini E and MTS Study group, Battini R   +10 more
openaire   +7 more sources

Identification of renal cyst cells of type I Nephronophthisis by single-nucleus RNA sequencing [PDF]

Frontiers in Cell and Developmental Biology, 2023
Background: Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood, and NPHP1 is the major pathogenic gene.
Qianying Wang, Baojuan Zou, Xiaoya Wei, Hongrong Lin, Changmiao Pang, Lei Wang, Jinglin Zhong, Huamu Chen, Xuefei Gao, Min Li, Albert C. M. Ong, Zhihui Yue, Liangzhong Sun   +12 more
doaj   +2 more sources

Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present recurrent 2q13 microduplication in a family with autism spectrum disorder (ASD), intellectual disability, and liver disorder. Case Report: A 45-year-old woman and her 52-year-old husband were referred for genetic counseling because ...
Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang   +7 more
doaj   +3 more sources

NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD [PDF]

Journal of the American Society of Nephrology, 2018
Background Nephronophthisis (NPH) is the most prevalent genetic cause for ESRD in children. However, little is known about the prevalence of NPH in adult-onset ESRD. Homozygous full gene deletions of the NPHP1 gene encoding nephrocystin-1 are a prominent cause of NPH.
Rozemarijn Snoek, Jessica van Setten, Brendan J. Keating, Ajay K. Israni, Pamala A. Jacobson, William S. Oetting, Arthur J. Matas, Roslyn B. Mannon, Zhongyang Zhang, Weijia Zhang, Ke Hao, Barbara Murphy, Roman Reindl-Schwaighofer, Andreas Heinzl, Rainer Oberbauer, Ondrej Viklicky, Peter J. Conlon, Caragh P. Stapleton, Stephan J.L. Bakker, Harold Snieder, Edith D.J. Peters, Bert van der Zwaag, Nine V.A.M. Knoers, Martin H. de Borst, Albertien M. van Eerde   +24 more
core   +5 more sources