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Diverse retinal-kidney phenotypes associated with homozygous whole-gene deletions in patients with kidney failure.
J Rare Dis (Berlin)
March 2024
Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
Unlabelled: A precise diagnosis in medicine allows appropriate disease-specific management. Kidney failure of unknown aetiology remains a frequent diagnostic label within the haemodialysis unit and kidney transplant clinic, accounting for 15-20% of these patients. Approximately 10% of such cases may have an underlying monogenic cause of kidney failure.
View Article and Find Full Text PDFA genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Sci Rep
June 2023
University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road Shirley, Southampton, SO16 6YD, UK.
Autosomal recessive whole gene deletions of nephrocystin-1 (NPHP1) result in abnormal structure and function of the primary cilia. These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior-Løken syndrome) and neurological (Joubert syndrome) diseases. Nephronophthisis is a common cause of end-stage kidney disease (ESKD) in children and up to 1% of adult onset ESKD.
View Article and Find Full Text PDFCiliopathy: Senior-Løken Syndrome.
Adv Exp Med Biol
July 2019
Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.
Senior-Løken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. Retinopathy may progress as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or sector RP (Figs. 34.
View Article and Find Full Text PDFNephronophthisis with brown tumor: Old and new problems.
Pediatr Int
September 2017
Department of Pediatrics, Hokkaido University Hospital, Sapporo, Hokkaido, Japan.
Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication.
Genes Cells
May 2017
RIKEN Brain Science Institute (BSI), Wako, Saitama, 351-0198, Japan.
Duplications of human chromosome 2q13 have been reported in patients with neurodevelopmental disorder including autism spectrum disorder. Nephronophthisis-1 (NPHP1) was identified as a causative gene in the minimal deletion on chromosome 2q13 for familial juvenile type 1 nephronophthisis and Joubert syndrome, an autosomal recessive neurodevelopmental disorder characterized by a cerebellar and brain stem malformation, hypotonia, developmental delay, ataxia, and sometimes associated with cognitive impairment. NPHP1 encodes a ciliary protein, nephrocystin-1, which is expressed in the brain, yet its function in the brain remains largely unknown.
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