Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.
|
28921755 |
2017 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
|
26673778 |
2016 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the two who survived beyond post-delivery demonstrated compound heterozygous novel frameshift mutations in the nephronophthisis type 3 gene (NPHP3).
|
23686967 |
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 |
Biomarker
|
disease |
BEFREE |
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
|
23793029 |
2013 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in nephrocystin-3 (NPHP3) are the cause of human nephronophthisis type 3 and polycystic kidney disease (pcy) mouse mutants.
|
20462968 |
2010 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
|
20007846 |
2010 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
|
19177160 |
2009 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.
|
19303681 |
2009 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We recently reported hypomorphic NPHP3 mutations in children and young adults with isolated nephronophthisis and associated hepatic fibrosis or tapetoretinal degeneration.
|
18371931 |
2008 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
|
18371931 |
2008 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe mutations in NPHP3 in families with isolated NPHP and in families with NPHP with associated hepatic fibrosis or tapeto-retinal degeneration.
|
12872122 |
2003 |
Nephronophthisis
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
|
12872122 |
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 |
BEFREE |
Four NPH-families were neither linked to NPHP1 nor to NPHP3, indicating further genetic heterogeneity within the group of nephronophthisis.
|
11274269 |
2001 |
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
There is extensive gene locus heterogeneity with at least three different loci for nephronophthisis (NPHP1, NPHP2, and NPHP3) and two different loci for MCKD (MCKD1 and MCKD2).
|
11261687 |
2001 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
BEFREE |
In a large Venezuelan kindred, a new type of nephronophthisis was recently identified: Adolescent nephronophthisis (NPH3) is a late-onset recessive renal cystic disorder of the nephronophthisis/medullary cystic group of diseases causing end-stage renal disease at a median age of 19 yr. With the use of a homozygosity mapping strategy, the gene (NPHP3) was previously localized to chromosome 3q22 within a critical interval of 2.4 cM.
|
11134256 |
2001 |
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Nephronophthisis
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Nephronophthisis
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|