Nephronophthisis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Inversion of embryonic turning (inv) cystic mice develop multiple renal cysts and are a model for type II nephronophthisis (NPHP2).
|
29889867 |
2018 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Inversin, encoded by NPHP2, is one of the 10 NPHP proteins known to be involved in nephronophthisis (an autosomal recessive cystic kidney).
|
28618971 |
2017 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Type II nephronophthisis (NPHP2) is an autosomal recessive renal cystic disorder characterized by mutations in the inversin gene.
|
28978526 |
2017 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene.
|
23713026 |
2013 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
|
23559409 |
2013 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ) and inversin (Inv) compartments, and defects in this organelle are associated with an expanding spectrum of inherited disorders including Bardet-Biedl syndrome (BBS), Meckel-Gruber Syndrome (MKS), Joubert Syndrome (JS) and Nephronophthisis (NPHP).
|
24339792 |
2013 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
21866095 |
2011 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This case shows that INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt/β-catenin pathway.
|
20798123 |
2010 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus.
|
18218308 |
2008 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The DNA sequence analysis of the polymerase chain reaction (PCR) detected no mutations in the NPHP2 (INVS) gene in this child, suggesting that new mutant genes might be responsible for the early onset of ESRD in infantile NPHP with features of JBTS.
|
17216245 |
2007 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
First, Inversin, a protein mutated in nephronophthisis type II was found to act as a switch between the canonical and the noncanonical Wnt cascade, suggesting that beta-catenin/TCF-dependent gene transcription has to be curtailed to allow normal tubular differentiation.
|
16816842 |
2006 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of the presence of RP in a patient with NPHP type 2 and INVS mutations.
|
16522655 |
2006 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Loci associated with an infantile type of NPHP on 9q22-q31 (NPHP2), juvenile types of NPHP on chromosomes 2q12-q13 (NPHP1) and 1p36 (NPHP4) and an adolescent type of NPHP on 3q21-q22 (NPHP3) have been mapped.
|
12872122 |
2003 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The interaction and colocalization in cilia of inversin, nephrocystin and beta-tubulin connect pathogenetic aspects of NPHP to PKD, to primary cilia function and to left-right axis determination.
|
12872123 |
2003 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The interaction and colocalization in cilia of inversin, nephrocystin and beta-tubulin connect pathogenetic aspects of NPHP to PKD, to primary cilia function and to left-right axis determination.
|
12872123 |
2003 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The interaction and colocalization in cilia of inversin, nephrocystin and beta-tubulin connect pathogenetic aspects of NPHP to PKD, to primary cilia function and to left-right axis determination.
|
12872123 |
2003 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
The interaction and colocalization in cilia of inversin, nephrocystin and beta-tubulin connect pathogenetic aspects of NPHP to PKD, to primary cilia function and to left-right axis determination.
|
12872123 |
2003 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, NPHP2 and NPHP3 for familial juvenile nephronophthisis (NPH) and MCKD1 and MCKD2 for the adult form of medullary cystic kidney disease.
|
12234310 |
2002 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|