The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in
children and young adults, and its association with retinal degeneration and cerebellar …
children and young adults, and its association with retinal degeneration and cerebellar …
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in
children,,. Identification of four genes mutated in NPHP subtypes 1–4 (refs.–) has linked the …
children,,. Identification of four genes mutated in NPHP subtypes 1–4 (refs.–) has linked the …
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole… - Nature …, 2007 - nature.com
Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent
genetic cause of end-stage renal failure in the first three decades of life. Positional cloning of …
genetic cause of end-stage renal failure in the first three decades of life. Positional cloning of …
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis
EA Otto, ML Trapp, UT Schultheiss… - Journal of the …, 2008 - journals.lww.com
Nephronophthisis, an autosomal recessive kidney disease, is the most frequent genetic
cause of chronic renal failure in the first 3 decades of life. Causative mutations in 8 genes …
cause of chronic renal failure in the first 3 decades of life. Causative mutations in 8 genes …
[HTML][HTML] Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
JF O'Toole, Y Liu, EE Davis… - The Journal of …, 2010 - Am Soc Clin Investig
The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most
frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative …
frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative …
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome
J Helou, EA Otto, M Attanasio, SJ Allen… - Journal of medical …, 2007 - jmg.bmj.com
Background: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that
constitutes the most common genetic cause of renal failure in the first three decades of life …
constitutes the most common genetic cause of renal failure in the first three decades of life …
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
EA Otto, J Helou, SJ Allen, JF O'Toole, EL Wise… - Human …, 2008 - Wiley Online Library
Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent
genetic cause of chronic renal failure in the first three decades of life. Mutations in eight …
genetic cause of chronic renal failure in the first three decades of life. Mutations in eight …
[HTML][HTML] Retinal thickness measurements in sickle cell patients with HbSS and HbSC genotype
Objective Temporal macula thinning has been reported in sickle cell patients, but it remains
unclear if there is a difference between HbSS and HbSC genotypes. We aimed to …
unclear if there is a difference between HbSS and HbSC genotypes. We aimed to …
Mutational analysis in 119 families with nephronophthisis
JF O'Toole, EA Otto, J Hoefele, J Helou… - Pediatric Nephrology, 2007 - Springer
Nephronophthisis (NPHP) is the most common genetic cause of end-stage renal disease
(ESRD) in the first three decades of life. Six genes, NPHP1-6, have been reported, which …
(ESRD) in the first three decades of life. Six genes, NPHP1-6, have been reported, which …
Comparing macula thickness between sickle cell patients of HbSS and HbSC genotype using spectral domain optical coherence tomography.
WS Lim, J Helou, T Magan… - … Ophthalmology & Visual …, 2016 - iovs.arvojournals.org
Purpose: HbSS patients have less severe proliferative retinopathy but more severe systemic
complications compared to HbSC patients. We previously shown mean macula thickness to …
complications compared to HbSC patients. We previously shown mean macula thickness to …