Results 41 to 50 of about 8,333 (256)
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
doaj +1 more source
NPHP4 Variants Are Associated With Pleiotropic Heart Malformations [PDF]
, 2012 Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of ...
Amack, J.D. +28 more
core +10 more sources
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
doaj +1 more source
A systems-biology approach to understanding the ciliopathy disorders. [PDF]
, 2011 'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core +1 more source
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Annual review of genomics and human genetics (Print), 2022 The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in Mendelian human genetics over the past half century.
J. C. Van De Weghe +2 more
semanticscholar +1 more source
Cystic kidney diseases: many ways to form a cyst [PDF]
, 2012 Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
core +1 more source
Neurology: Genetics, 2023 Objectives Biallelic variants in XPNPEP3 are associated with a rare mitochondrial syndrome characterized by nephronophthisis leading to kidney failure, essential tremor, hearing loss, seizures, and intellectual disability.
Ilan Ben-Shabat +8 more
semanticscholar +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 +3 more
doaj +1 more source
Renal symptoms in the Joubert syndrome [PDF]
, 2009 OBJECTIVE:To describe the case of a patient with Joubert syndrome associated with renal impairments. CASE DESCRIPTION: A 2 month-old patient was admitted with hypotonia and hyperpneia.
Andrade, Maria Cristina de +2 more
core +4 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 +1 more source