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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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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Evidence of Oligogenic Inheritance in Nephronophthisis [PDF]
Journal of the American Society of Nephrology, 2007 Nephronophthisis is a recessive cystic renal disease that leads to end-stage renal failure in the first two decades of life. Twenty-five percent of nephronophthisis cases are caused by large homozygous deletions of NPHP1, but six genes responsible for nephronophthisis have been identified.
Hoefele, Julia +9 more
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Nephronophthisis and medullary cystic kidney disease complex [PDF]
Vojnosanitetski Pregled, 2005 Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern
Stanišić Marijana +3 more
doaj +3 more sources
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 +4 more
doaj +2 more sources
Nephronophthisis: A Genetically Diverse Ciliopathy [PDF]
International Journal of Nephrology, 2011 Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults.
Roslyn J. Simms +3 more
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Joubert syndrome with nephronophthisis in neurofibromatosis type 1
Saudi Journal of Kidney Diseases and Transplantation, 2011 Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation.
Javed Ahmed, Uma S Ali
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Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 1; referees: 1 approved, 2 approved with reservations] [PDF]
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 +4 more
doaj +2 more sources
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 BiologyJuvenile nephronophthisis is an inherited renal ciliopathy with cystic kidney disease, renal fibrosis, and end-stage renal failure in children and young adults.
Yutaka Arai +11 more
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Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation. [PDF]
Nephrology (Carlton)ABSTRACT Hereditary tubulointerstitial kidney diseases typically manifest as slowly progressive chronic kidney disease. Rapidly progressive kidney failure with non‐cystic nephromegaly is an exceptionally rare presentation posing significant diagnostic challenges.
Ito H +11 more
europepmc +2 more sources