Results 51 to 60 of about 8,333 (256)

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis. [PDF]

Pediatr Nephrol
Nephronophthisis (NPH) comprises a heterogeneous group of inherited renal ciliopathies clinically characterized by progressive kidney failure. So far, definite diagnosis is based on molecular testing only.
Hellmann C, Wohlgemuth K, Pennekamp P, George S, Dahmer-Heath M, Konrad M, Omran H, König J, NEOCYST Consortium.   +8 more
europepmc   +2 more sources

Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review. [PDF]

BMC Pediatr
(XPNPEP3) mutations are known to cause nephronophthisis-like nephropathy-1 (NPHPL1), a rare autosomal-recessive kidney disease characterized by progressive kidney failure and cystic kidney disease in childhood.
Zhen Z, Dong Z, Gao L, Wang Q, Chen X, Na J, Yuan Y.   +6 more
europepmc   +2 more sources

WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99013/1/cge12196 ...
Arthurs, P, Coussa, R G, Faingold, R, Fu, Q, Gee, H‐y, Hildebrandt, F, Keser, V, Khan, A, Koenekoop, R K, Lopez, I, Majewski, J, Otto, E A, Ren, H, Schwartzentruber, J   +13 more
core   +1 more source

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 1; referees: 1 approved, 2 approved with reservations]

F1000Research, 2018
Zebrafish are a valuable vertebrate model in which to study development and characterize genes involved in cystic kidney disease. Zebrafish embryos and larvae are transparent, allowing non-invasive imaging during their rapid development, which takes ...
Elisa Molinari, Simon A. Ramsbottom, Veronica Sammut, Frances E. P. Hughes, John A. Sayer   +4 more
doaj   +1 more source

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]

, 2017
The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit, A Hameed, AF Wright, AI Hollander den, B Kennedy, BW Draper, C Insinna, C Turney, CA Murga-Zamalloa, CM Louie, CS Mellersh, D Deretic, D Mustafi, DH Hong, EM Morrow, F Liu, G Stearns, G Ying, H Patil, H Wang, HH Arts, J Kim, J Wang, J Won, JC Booij, JE Westfall, JM Corless, JP Boylan, KL Cerveny, KL Coene, L Sang, MM Humphries, MV Nachury, O Rinner, OL Moritz, P Castagnet, PD Alfinito, PH Balm, R Bachmann-Gagescu, R Roepman, R Roepman, S Gerber, SC Neuhauss, SE Brockerhoff, SR Patnaik, TA Mavlyutov, TP Dryja, V Traverso, VS Lopes, X Shu, X Shu, X Shu., Y Wada., Y Zhao, YV Makhankov   +54 more
core   +4 more sources

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

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, J. Zhong, Huamu Chen, Xuefei Gao, Min Li, A. Ong, Z. Yue, Liangzhong Sun   +12 more
semanticscholar   +1 more source

Ciliary Genes in Renal Cystic Diseases

Cells, 2020
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal ...
Anna Adamiok-Ostrowska, Agnieszka Piekiełko-Witkowska   +1 more
doaj   +1 more source

Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report. [PDF]

CEN Case Rep
Tanaka Y, Horinouchi T, Inoki Y, Ichikawa Y, Ueda C, Kitakado H, Kondo A, Sakakibara N, Nagano C, Yano Y, Yoshikawa N, Morisada N, Nozu K.   +12 more
europepmc   +2 more sources

Target enrichment using parallel nanoliter quantitative PCR amplification [PDF]

, 2014
Background: Next generation targeted resequencing is replacing Sanger sequencing at high pace in routine genetic diagnosis. The need for well validated, high quality enrichment platforms to complement the bench-top next generation sequencing devices is ...
De Wilde, Bram, Derveaux, Stefaan, Dong, Wes, Dunne, Jude, Hellemans, Jan, Husain, Syed, Lefever, Steve, Vandesompele, Jo   +7 more
core   +2 more sources

Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome

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.
Ke Ning, Emilie Song, Brent E. Sendayen, Philipp P. Prosseda, Kun‐Che Chang, Alireza Ghaffarieh, Jorge A. Alvarado, Biao Wang, Kathryn M. Haider, Nicolas F. Berbari, Yang Hu, Yang Sun   +11 more
doaj   +1 more source