Results 21 to 30 of about 4,241 (146)

Nephronophthisis and central veins abnormalities: A case report

Clinical Case Reports, 2021
Patients with genetic disorders are potentially more susceptible to present vascular abnormalities compared to the general population. For these patients, unusual difficulties could appear during a CVC placement procedure that could lead to major ...
Mohamed Amine Rahil, Messaoud Hadjmhamed
doaj   +1 more source

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

Pediatr Nephrol
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

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis

Frontiers in Cell and Developmental Biology, 2021
Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-stage renal disease in children. The main forms, juvenile and adult NPH, are characterized by tubulointerstitial fibrosis whereas the infantile form is more severe and ...
Marijn F. Stokman, Marijn F. Stokman, Sophie Saunier, Alexandre Benmerah   +3 more
doaj   +1 more source

Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition. [PDF]

PLoS Genetics, 2014
We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis.
Gisela G Slaats, Amiya K Ghosh, Lucas L Falke, Stéphanie Le Corre, Indra A Shaltiel, Glenn van de Hoek, Timothy D Klasson, Marijn F Stokman, Ive Logister, Marianne C Verhaar, Roel Goldschmeding, Tri Q Nguyen, Iain A Drummond, Friedhelm Hildebrandt, Rachel H Giles   +14 more
doaj   +1 more source

Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

Frontiers in Pediatrics, 2018
Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood.
Jens Christian König, Andrea Titieni, Martin Konrad, The NEOCYST Consortium, C. Bergmann, M. Cetiner, J. Drube, C. Gimpel, J. Göbel, D. Haffner, T. Illig, N. Klopp, J. König, M. Konrad, M. Lablans, M. C. Liebau, S. Lienkamp, C. Okorn, H. Omran, L. Pape, P. Pennekamp, F. Schaefer, B. Schermer, H. Storf, A. Titieni, F. Ückert, S. Weber, W. Ziegler   +27 more
doaj   +1 more source

A family with five siblings affected with nephronophthisis

Saudi Journal of Kidney Diseases and Transplantation, 2014
Nephronophthisis is an autosomal recessive disease that leads to end-stage renal disease. These days, molecular genetic analysis is used pre-emptively for making a definitive diagnosis in patients who have clinical and radiological data suggestive of the
Jumana Albaramki, Kamal Akl, Radi Hamed, Ayman Wahbeh   +3 more
doaj   +1 more source

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 2; 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

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

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

A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature

Molecular Genetics & Genomic Medicine, 2022
Background Nephronophthisis type 12 (NPHP 12) is a rare cilia‐related cystic kidney disease, caused by TTC21B mutation, mainly involving the kidneys, which generally occurs in children. Our study aimed to illustrate its clinical, pathological and genetic
Dan Wang, Xionghui Chen, Qiong Wen, Zhijian Li, Wei Chen, Wenfang Chen, Xin Wang   +6 more
doaj   +1 more source