|
Periventricular Nodular Heterotopia
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
|
27694961 |
2016 |
|
Periventricular Nodular Heterotopia
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
The unique constellation of clinical features in patients with NEDD4L mutations might help clinically distinguish them from patients with other genetic mutations including FLNA, which is a well-known causative gene of periventricular nodular heterotopia.
|
28515470 |
2017 |
|
Periventricular Nodular Heterotopia
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
|
30393983 |
2018 |
|
Periventricular Nodular Heterotopia
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Thus, the title should read "A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate."
|
31028281 |
2019 |
|
Cleft Palate
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.
|
28515470 |
2017 |
|
Cleft Palate
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
Thus, the title should read "A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate."
|
31028281 |
2019 |
|
PERIVENTRICULAR NODULAR HETEROTOPIA 7
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HECT domain of NEDD4L have recently been identified in a cohort of eight patients with a syndromic form of bilateral periventricular nodular heterotopia (PVNH) in association with neurodevelopmental delay, cleft palate, and toe syndactyly (PVNH7).
|
30393983 |
2018 |
|
Hypertensive disease
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Compounds that destabilize cell surface ENaC, or enhance Nedd4-2 activity in the kidney, could potentially serve as drug targets for hypertension.
|
18691017 |
2008 |
|
Hypertensive disease
|
0.400 |
Biomarker
|
group |
BEFREE |
We hypothesized that Nedd4-2 is a susceptibility gene for hypertension and screened 856 renal patients and healthy controls for mutations in a subset of exons of the human Nedd4-2 gene that are relevant for ENaC regulation by PCR/single-strand conformational polymorphism.
|
15140763 |
2004 |
|
Hypertensive disease
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Our results from Nedd4-2 C2 KO mice suggest that enhanced <i>ENaC</i> gene expression is critically involved in salt-sensitive hypertension under certain conditions of specific enzyme isoforms for their ubiquitination.
|
28604611 |
2017 |
|
Hypertensive disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We report SNPs that are associated with the inheritance of HTN and are located either at the promoters of N-methyltransferase and catalase genes, or within the coding region of NEDD4L ubiquitin ligase gene, or SNPs in mitochondrial DNA of hypertensive probands.
|
24491930 |
2014 |
|
Hypertensive disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Postural SBP response was associated with variant 13 of the NEDD4L in a subset of white subjects taking medications effective in treating sodium volume-dependent hypertension (alpha1-blockers, calcium channel blockers, and/or diuretics).
|
15882550 |
2005 |
|
Hypertensive disease
|
0.400 |
Biomarker
|
group |
BEFREE |
The emerging role of NEDD4-2 in the regulation of different Na+ transporters along the nephron and the identification of human polymorphisms in the NEDD4-2 gene (Nedd4L) related to salt-sensitive hypertension makes this ubiquitin-protein ligase an interesting target for the development of antihypertensive drugs.
|
25602517 |
2015 |
|
Hypertensive disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Genetic variation of NEDD4L has been associated with hypertension and related phenotypes with conflicting results, probably attributable to gender-, age- and ethnicity-related variations in its phenotypic expression.
|
24047422 |
2014 |
|
Hypertensive disease
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Small molecules/compounds that destabilize cell surface ENaC, or enhance Nedd4-2 activity in the kidney, could potentially serve to alleviate hypertension.
|
19007435 |
2008 |
|
Hypertensive disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Recently, a functional polymorphism located at the last nucleotide of exon 1 (rs4149601) of the NEDD4L gene were found to be associated with hypertension both in African Americans and whites, and a "flip-flop" association with hypertension was found in two white samples for a polymorphism located at intron 13 (rs3865418).
|
18293164 |
2008 |
|
Hypertensive disease
|
0.400 |
Biomarker
|
group |
BEFREE |
Hence, Nedd4-2 may be encoded by a novel susceptibility gene for arterial hypertension.
|
11473628 |
2001 |
|
Hypertensive disease
|
0.400 |
Biomarker
|
group |
BEFREE |
Taken together, these results demonstrate that loss of NEDD4-2 in adult renal tubules causes a new form of mild, salt-sensitive hypertension without hyperkalemia that is characterized by upregulation of NCC, elevation of β/γENaC, but not αENaC, and a normal Na+/K+ balance maintained by downregulation of ENaC activity and upregulation of ROMK.
|
23348737 |
2013 |
|
Hypertensive disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Contrary to some recent reports, our data also indicate that ENaC is the primary in vivo target of NEDD4-2 and that Nedd4-2 deletion is associated with hypertension on a normal Na<sup>+</sup> diet.
|
28862701 |
2017 |
|
Hypertensive disease
|
0.400 |
Biomarker
|
group |
BEFREE |
We demonstrate here that loss of Nedd4-2 C2 isoform causes salt-sensitive hypertension under conditions of a high dietary salt intake in vivo.
|
27256588 |
2016 |
|
Hypertensive disease
|
0.400 |
Biomarker
|
group |
BEFREE |
Taken together, our analyses suggest that the human Nedd4L gene, especially the evolutionarily new isoform I, is a candidate gene for hypertension.
|
18268134 |
2008 |
|
Hypertensive disease
|
0.400 |
Biomarker
|
group |
BEFREE |
Our data also suggest that it would be meaningful to investigate the role of NEDD4L-mediated ubiquitination in the pathogenesis of hypertension.
|
20090362 |
2010 |
|
Hypertensive disease
|
0.400 |
Biomarker
|
group |
BEFREE |
A mutation associated with Liddle's syndrome (betaR566X) abolished the effect of Nedd4-2 siRNA, suggesting that a defect in ENaC regulation by Nedd4-2 contributes to the pathogenesis of this inherited form of hypertension.
|
14645220 |
2004 |
|
Hypertensive disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The purpose of the current study was to investigate the relationship between the variation in NEDD4L and essential hypertension in Kazakh, which is a relatively isolated population with a pure genetic background and is an ideal population to study genetic mechanisms of hypertension.
|
20003179 |
2009 |
|
Hypertensive disease
|
0.400 |
Biomarker
|
group |
BEFREE |
Recently, studies showed evidence for the association of NEDD4L with obesity, a key intermediate phenotype in hypertension.
|
23549273 |
2013 |