Results 11 to 20 of about 3,874 (165)
Pediatric Nephrology, 2008 Abstract Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form).
Salomon, Rémi +2 more
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Frontiers in Molecular Biosciences, 2023 Renal epithelial cells are subjected to fluid shear stress of urine flow. Several cellular structures act as mechanosensors–the primary cilium, microvilli and cell adhesion complexes–that directly relay signals to the cytoskeleton to regulate various ...
Meriem Garfa Traoré +11 more
doaj +1 more source
Journal of Clinical and Diagnostic Research, 2016 Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease.
Amarpreet Kaur +4 more
doaj +1 more source
Pediatric Nephrology, 2010 Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes, denoted nephrocystins (NPHP1-11, NPHP1L).
Matthias T F, Wolf +1 more
openaire +2 more sources
Stem Cell Research, 2020 Juvenile nephronophthisis is an inherited renal ciliopathy, causing cystic kidney disease, renal fibrosis, and end-stage renal failure. Human induced pluripotent stem cell (hiPSC) lines, derived from two Juvenile nephronophthisis patients, were generated
Yutaka Arai +15 more
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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
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Frontiers in Pediatrics, 2021 Secondary hyperparathyroidism (HPT) is a common complication of end-stage renal disease (ESRD) and may be an important precipitating factor for the development of myelofibrosis.
Keishiro Amano +4 more
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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 +14 more
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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 +3 more
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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 +27 more
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