NEPHRONOPHTHISIS 2
|
0.960 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
NEPHRONOPHTHISIS 2
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
|
20798123 |
2010 |
NEPHRONOPHTHISIS 2
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
|
18076122 |
2008 |
NEPHRONOPHTHISIS 2
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Here, we identify inversin (INVS) as the gene mutated in NPHP2 with and without situs inversus.
|
12872123 |
2003 |
NEPHRONOPHTHISIS 2
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
21866095 |
2011 |
NEPHRONOPHTHISIS 2
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
|
23559409 |
2013 |
NEPHRONOPHTHISIS 2
|
0.960 |
CausalMutation
|
disease |
CLINVAR |
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
|
19177160 |
2009 |
NEPHRONOPHTHISIS 2
|
0.960 |
AlteredExpression
|
disease |
BEFREE |
Together these results suggest that loss of inversin decreases Na<sup>+</sup> transport via ENaC, mediated in part by transcriptional and posttranslational regulation of Crtc2/Sgk1/Nedd4l axis as a contributory mechanism for enlarged kidneys in NPHP2.
|
28978526 |
2017 |
NEPHRONOPHTHISIS 2
|
0.960 |
Biomarker
|
disease |
CTD_human |
|
|
|
NEPHRONOPHTHISIS 2
|
0.960 |
Biomarker
|
disease |
MGD |
Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse.
|
9771707 |
1998 |
NEPHRONOPHTHISIS 2
|
0.960 |
Biomarker
|
disease |
MGD |
Cloning of inv, a gene that controls left/right asymmetry and kidney development.
|
9744276 |
1998 |
NEPHRONOPHTHISIS 2
|
0.960 |
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 2
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here, we identify inversin (INVS) as the gene mutated in NPHP2 with and without situs inversus.
|
12872123 |
2003 |
NEPHRONOPHTHISIS 2
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
NEPHRONOPHTHISIS 2
|
0.960 |
Biomarker
|
disease |
MGD |
Abnormal nodal flow precedes situs inversus in iv and inv mice.
|
10549278 |
1999 |
NEPHRONOPHTHISIS 2
|
0.960 |
Biomarker
|
disease |
MGD |
Molecular cloning of a gene for inversion of embryo turning (inv) with cystic kidney.
|
12386294 |
2002 |
NEPHRONOPHTHISIS 2
|
0.960 |
Biomarker
|
disease |
MGD |
Renal cysts of inv/inv mice resemble early infantile nephronophthisis.
|
15213262 |
2004 |
NEPHRONOPHTHISIS 2
|
0.960 |
Biomarker
|
disease |
MGD |
Reversal of left-right asymmetry: a situs inversus mutation.
|
8480178 |
1993 |
NEPHRONOPHTHISIS 2
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Here we screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations.
|
19177160 |
2009 |
NEPHRONOPHTHISIS 2
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Cystic kidney disease has been linked to mutations in the Invs gene in mice with an inversion of embryonic turning (inv/inv) and the INVS (NPHP2) gene in human infantile nephronophthisis (NPH).
|
18218308 |
2008 |
NEPHRONOPHTHISIS 2
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.
|
31706999 |
2020 |
NEPHRONOPHTHISIS 2
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
Here, we identify inversin (INVS) as the gene mutated in NPHP2 with and without situs inversus.
|
12872123 |
2003 |
NEPHRONOPHTHISIS 2
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Here, we identify inversin (INVS) as the gene mutated in NPHP2 with and without situs inversus.
|
12872123 |
2003 |