Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>NPHP1</i> gene, coding for human nephrocystin-1 (NPHP1), cause the autosomal recessive disease nephronophthisis, the most common cause of end-stage renal disease in children and adolescents.
|
31345020 |
2019 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family.
|
31096956 |
2019 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Finally, we noted that the individual with a complex urogenital defect also harbored a heterozygous NPHP1 deletion, a common contributor to nephronophthisis.
|
30609410 |
2019 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Awareness of the histopathologic pattern of injury in nephronophthisis combined with testing for NPHP1 deletion enables renal pathologists to provide a definitive pathologic and genetic diagnosis in a subset of patients with this disease.
|
29949740 |
2018 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous deletions in the nephronophthisis 1 (NPHP1) gene are the major contributor of nephronophthisis cases, while other genes accounts for less than 3% each.
|
30087219 |
2018 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with clinical diagnosis of NPHP (n = 57) were screened for total deletion of NPHP1 by polymerase chain reaction (PCR) for the 20 exons of NPHP1.
|
25401970 |
2015 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study assessed mutations of the NPHP1 gene in 16 Iranian families with at least one member presenting features of nephronophthisis.
|
25851290 |
2015 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
|
23683649 |
2013 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Also, we report that homozygous NPHP1 deletions account for 29.4% of NPHP in the studied families in this cohort, thereby confirming the diagnosis of type-1 NPHP.
|
22982934 |
2012 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To identify disease-causing mutations within coding regions of 11 known NPHP genes (NPHP1-NPHP11) in a cohort of 192 patients diagnosed with a nephronophthisis-associated ciliopathy, at low cost.
|
23188109 |
2012 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Also, we report that homozygous NPHP1 deletions account for 29.4% of NPHP in the studied families in this cohort, thereby confirming the diagnosis of type-1 NPHP.
|
22982934 |
2012 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Using high-confidence proteomics, we identified 850 interactors copurifying with nine NPHP/JBTS/MKS proteins and discovered three connected modules: "NPHP1-4-8" functioning at the apical surface, "NPHP5-6" at centrosomes, and "MKS" linked to Hedgehog signaling.
|
21565611 |
2011 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NPHP1 deletion analysis should always be considered in patients with apparently dominant nephronophthisis.
|
21258817 |
2011 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
|
18076122 |
2008 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Twenty-five percent of nephronophthisis cases are caused by large homozygous deletions of NPHP1, but six genes responsible for nephronophthisis have been identified.
|
17855640 |
2007 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, NPHP1 deletions identical to those that cause juvenile nephronophthisis have been identified in a subset of patients with a mild form of cerebellar and brainstem anomaly.
|
17160906 |
2007 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Positional cloning of six novel genes (NPHP1 through 6) as mutated in NPHP and functional characterization of their encoded proteins have contributed to the concept of "ciliopathies."
|
17513324 |
2007 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Nephronophthisis (NPHP) is found in 17-27% of these patients, which was designated JS type B. Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3) are linked to JS.
|
17960139 |
2007 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using positional cloning, six genes (NPHP1-6) have been identified as mutated in NPHP.
|
17617513 |
2007 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to examine 119 families with NPHP and absence of homozygous NPHP1 deletions for mutations in NPHP2-6 and the two candidate genes BCL2 and CYS1.
|
17061121 |
2007 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, because NPHP1 mutations usually cause isolated nephronophthisis, the factors that predispose to the development of neurologic involvement are poorly understood.
|
17409309 |
2007 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous deletions of NPHP1 on chromosome 2q13 have been identified in individuals with NPHP-associated JBTS.
|
16240161 |
2006 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The majority of patients with NPHP carry homozygous deletions of NPHP1 encoding nephrocystin.
|
16885411 |
2006 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The disease is caused by mutations in the NPHP 1-5 genes, and is referred to as NPHP types 1-5, respectively.
|
16522655 |
2006 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy.
|
16762963 |
2006 |