|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The identification of a novel frameshift mutation of SCNN1B enriches the genetic spectrum of LS and has allowed treatment of this affected family to prevent severe complications.
|
30496127 |
2018 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To identify mutation in SCNN1B and SCNN1G genes in an adolescent with suspicious Liddle syndrome and his family members and to explore the screening target subjects of Liddle syndrome.
|
28718682 |
2018 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Based on direct DNA sequencing, we identified a novel frameshift mutation in the βENaC gene in an isolated case of Liddle syndrome.
|
25378078 |
2015 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The sequence of C-terminus of SCNN1B and SCNN1G were screened in the two families with likely Liddle syndrome.
|
24474657 |
2014 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We screened an adolescent with severe hypertension who was clinically diagnosed with Liddle syndrome for mutations in the C-terminus of the SCNN1B and SCNN1G genes.
|
22809657 |
2013 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family.
|
22613642 |
2012 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The R563Q mutation of β-ENaC is associated with hypertension within affected kindreds, but does not usually cause the full Liddle's syndrome phenotype.
|
21107496 |
2011 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the alpha-, beta- and gamma-ENaC subunit genes (SCNN1A, SCNN1B and SCNN1G) are associated with multi-system pseudohypoaldosteronism (PHA), and mutations in the PY motif of carboxy-terminal region of beta and gamma subunits are associated with Liddle syndrome of hereditary hypertension.
|
20064610 |
2010 |
|
Liddle Syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
We report here a Thai family with Liddle's syndrome caused by a novel P615H missense mutation in the proline-rich domain of the SCNN1B gene coding for the beta-subunit of ENaC.
|
19344079 |
2009 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report here a Thai family with Liddle's syndrome caused by a novel P615H missense mutation in the proline-rich domain of the SCNN1B gene coding for the beta-subunit of ENaC.
|
19344079 |
2009 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to search for mutations of SCNN1B and SCNN1G in an Italian family with apparently dominant autosomal transmission of a clinical phenotype consistent with Liddle's syndrome.
|
18398334 |
2008 |
|
Liddle Syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
The aim of the study was to search for mutations of SCNN1B and SCNN1G in an Italian family with apparently dominant autosomal transmission of a clinical phenotype consistent with Liddle's syndrome.
|
18398334 |
2008 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to determine whether mutations of SCNN1B or SCNN1G were present in a patient clinically suspected to have Liddle syndrome with no familial history of hypertension.
|
17634077 |
2007 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of ENaC in a Chinese family with Liddle's syndrome revealed P616H of SCNN1B coaggregated with the phenotype, while this variant was not detected in 100 unrelated subjects.
|
16943574 |
2006 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.
|
15483078 |
2005 |
|
Liddle Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.
|
15483078 |
2005 |
|
Liddle Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
A mouse model for Liddle's syndrome.
|
10589691 |
1999 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.
|
9626162 |
1998 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Genetic analysis of the epithelial sodium channel in Liddle's syndrome.
|
9794716 |
1998 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Liddle's syndrome of hypertension and pseudoaldosteronism has been shown to arise from mutations in SCNN1B and SCNN1G.
|
8824886 |
1996 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.
|
8601645 |
1996 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.
|
8524790 |
1995 |
|
Liddle Syndrome
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.
|
7550319 |
1995 |
|
Liddle Syndrome
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|