|
Keratoderma, Palmoplantar
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.
|
31706940 |
2019 |
|
Keratoderma, Palmoplantar
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.
|
24773080 |
2014 |
|
Keratoderma, Palmoplantar
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries.In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.
|
25029323 |
2014 |
|
Keratoderma, Palmoplantar
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Almost all NPPK patients carry the founder nonsense mutation c.796C>T (p.Arg266Ter) in the last exon of SERPINB7.
|
29106929 |
2018 |
|
Keratoderma, Palmoplantar
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene.
|
27666198 |
2016 |
|
Asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.
|
31619474 |
2019 |
|
Asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |
|
Asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.
|
31036433 |
2019 |
|
Childhood asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |
|
Childhood asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.
|
31036433 |
2019 |
|
IGA Glomerulonephritis
|
0.080 |
GeneticVariation
|
disease |
LHGDN |
A family-based association study of megsin A23167G polymorphism with susceptibility and progression of IgA nephropathy in a Chinese population.
|
16550745 |
2006 |
|
IGA Glomerulonephritis
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
This provides further evidence for the involvement of genetic variations of MEGSIN in the pathogenesis of IgAN.
|
16431886 |
2006 |
|
IGA Glomerulonephritis
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
However, the results showed no association between these gene variants and sex of the patients.These results indicate that megsin gene variants may play a role in the severity, development, and/or progression of IgAN in Northwest Chinese population.
|
26871801 |
2016 |
|
IGA Glomerulonephritis
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We performed an association study of patients with IgA nephropathy and matching control subjects to test whether the G38A polymorphism in the uteroglobin gene, the C2093T polymorphism in the megsin gene, or the angiotensin-converting enzyme (ACE) insertion/deletion polymorphism is associated with IgA nephropathy or rate of disease progression in patients with IgA nephropathy.
|
10977777 |
2000 |
|
IGA Glomerulonephritis
|
0.080 |
GeneticVariation
|
disease |
LHGDN |
In the present study, we evaluated the influence of the C2093T and C2180T polymorphism within the 3' untranslated region (3'UTR) of megsin gene and its haplotypes on the development and progression of Korean IgAN patients.
|
18793525 |
2008 |
|
IGA Glomerulonephritis
|
0.080 |
GeneticVariation
|
disease |
LHGDN |
This provides further evidence for the involvement of genetic variations of MEGSIN in the pathogenesis of IgAN.
|
16431886 |
2006 |
|
IGA Glomerulonephritis
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we evaluated the influence of the C2093T and C2180T polymorphism within the 3' untranslated region (3'UTR) of megsin gene and its haplotypes on the development and progression of Korean IgAN patients.
|
18793525 |
2008 |
|
IGA Glomerulonephritis
|
0.080 |
GeneticVariation
|
disease |
LHGDN |
The influence of two megsin polymorphisms on the progression of IgA nephropathy.
|
18498720 |
2008 |
|
Palmoplantar Keratosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries.In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.
|
25029323 |
2014 |
|
Palmoplantar Keratosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Almost all NPPK patients carry the founder nonsense mutation c.796C>T (p.Arg266Ter) in the last exon of SERPINB7.
|
29106929 |
2018 |
|
Palmoplantar Keratosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation.
|
31706940 |
2019 |
|
Palmoplantar Keratosis
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.
|
24773080 |
2014 |
|
Palmoplantar keratoderma Nagashima type
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Detection of SERPINB7 mutation can distinguish Nagashima-type palmoplantar keratoderma from other keratodermas with palmoplantar lesions.
|
28211129 |
2017 |
|
Palmoplantar keratoderma Nagashima type
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Palmoplantar keratoderma Nagashima type
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
|
24207119 |
2013 |