Abnormality of the eye
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
However, homozygous Chmp4b-mutant (V/V) mice died by embryonic day 15.5 (E15.5) with grossly abnormal eye and brain histology.
|
31404815 |
2020 |
Anterior subcapsular cataract
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Bilateral cataracts (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In addition, we have detected a heterozygous transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar cataracts in a Japanese family that was predicted to result in the missense substitution of lysine for a conserved glutamic acid residue at codon 161 (p.E161K).
|
17701905 |
2007 |
Cataract
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
In addition, we have detected a heterozygous transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar cataracts in a Japanese family that was predicted to result in the missense substitution of lysine for a conserved glutamic acid residue at codon 161 (p.E161K).
|
17701905 |
2007 |
Cataract
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Here we have characterized the lens phenotypes of mutant (knock-in) mice harboring a human cataract-associated mutation (p.D129V) in CHMP4B (Chmp4b-mutant) and conditional knockdown mice deficient in lens CHMP4B (Chmp4b-CKD).
|
31404815 |
2020 |
Cataract
|
0.030 |
Biomarker
|
disease |
BEFREE |
Association of CHMP4B and autophagy with micronuclei: implications for cataract formation.
|
24741567 |
2014 |
Cataract, posterior polar, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cataract, posterior polar, 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cataract, posterior polar, 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.
|
17701905 |
2007 |
Cataract, posterior polar, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.
|
17701905 |
2007 |
Cataract, posterior polar, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Embryonal nuclear cataract (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Liver carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
More importantly, univariate and multivariate survival analyses demonstrated that CHMP4B served as an independent prognostic factor for survival of HCC patients.
|
25874485 |
2015 |
Liver carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
And, silencing Vps4A or CHMP4B promoted EMT in HCC.
|
31059752 |
2019 |
Neoplasm Metastasis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In conclusion, through the interaction with CHMP4B and β-catenin, Vps4A regulates the PM localization and exosome sorting of β-catenin, consequently decreases β-catenin signaling, and thereby inhibits EMT and metastasis in HCC.
|
31059752 |
2019 |
Nuclear cataract
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Nuclear non-senile cataract
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Polar cataract
|
0.010 |
Biomarker
|
disease |
BEFREE |
Interestingly, a CHMP4B mutation associated with autosomal dominant posterior polar cataract abolishes the ability of CHMP4B to localize to micronuclei.
|
24741567 |
2014 |
Posterior subcapsular cataract
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Posterior subcapsular cataract
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.
|
17701905 |
2007 |
Protein C antigen measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
|
20802025 |
2010 |
Protein C measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
|
20802025 |
2010 |