|
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
|
31392520 |
2019 |
|
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In summary, we describe PLACK syndrome, as a clinical entity of defective epidermal adhesion, caused by loss-of-function mutations in CAST.
|
25683118 |
2015 |
|
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
In summary, we describe PLACK syndrome, as a clinical entity of defective epidermal adhesion, caused by loss-of-function mutations in CAST.
|
25683118 |
2015 |
|
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
In affected individuals with PLACK syndrome from three families of different ethnicities, we identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG) in CAST, all of which were predicted to encode truncated proteins (p.Ile203Asnfs∗8, p.Lys142∗, and p.Val584Trpfs∗37).
|
25683118 |
2015 |
|
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Necrosis
|
0.300 |
Therapeutic
|
phenotype |
CTD_human |
The calpain inhibitor and the ROS scavenger synergistically inhibited Cd-induced necrosis.
|
17323976 |
2007 |
|
Liver Failure, Acute
|
0.300 |
Therapeutic
|
disease |
CTD_human |
Upregulation of calpastatin in regenerating and developing rat liver: role in resistance against hepatotoxicity.
|
16871587 |
2006 |
|
Cerebrovascular accident
|
0.200 |
Biomarker
|
group |
RGD |
Neuroprotective actions of aminoguanidine involve reduced the activation of calpain and caspase-3 in a rat model of stroke.
|
20116408 |
2010 |
|
Brain Ischemia
|
0.200 |
Biomarker
|
disease |
RGD |
3-[2-[4-(3-Chloro-2-methylphenylmethyl)-1-piperazinyl]ethyl]-5,6-dimethoxy-1-(4-imidazolylmethyl)-1H-indazole dihydro-chloride 3.5 hydrate (DY-9760e) is neuroprotective in rat microsphere embolism: role of the cross-talk between calpain and caspase-3 through calpastatin.
|
16467455 |
2006 |
|
Chemical and Drug Induced Liver Injury
|
0.200 |
Biomarker
|
disease |
RGD |
Upregulation of calpastatin in regenerating and developing rat liver: role in resistance against hepatotoxicity.
|
16871587 |
2006 |
|
Sepsis
|
0.200 |
Biomarker
|
disease |
RGD |
Sepsis stimulates calpain activity in skeletal muscle by decreasing calpastatin activity but does not activate caspase-3.
|
15563579 |
2005 |
|
Myocardial Reperfusion Injury
|
0.200 |
Biomarker
|
phenotype |
RGD |
Calpain, calpastatin activities and ratios during myocardial ischemia-reperfusion.
|
12482022 |
2002 |
|
Reperfusion Injury
|
0.200 |
Biomarker
|
disease |
RGD |
Involvement of calpain isoforms in ischemia-reperfusion injury in rat retina.
|
11035539 |
2000 |
|
Hypoxia-Ischemia, Brain
|
0.200 |
Biomarker
|
disease |
RGD |
Calpastatin is up-regulated in response to hypoxia and is a suicide substrate to calpain after neonatal cerebral hypoxia-ischemia.
|
10318818 |
1999 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Sore to touch
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Out of these, the LD-block 3 in calpastatin, tagged by SNPs located at 7-98566391 and 7-98581038, had a significant effect on tenderness with the TG-CG diplotype being approximately 1 kg more tender than the toughest diplotype, TG-CG.
|
29520298 |
2018 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
Alanine aminotransferase measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.
|
28090653 |
2017 |
|
Sore to touch
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Single nucleotide polymorphisms (SNPs) carried in calpain (CAPN1), calpastatin (CAST), and leptin (LEP) genes are associated with meat tenderness.
|
28525658 |
2017 |
|
Sore to touch
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
The micromolar calcium activated neutral protease <i>(CAPN1)</i> and calpastatin <i>(CAST)</i> have been widely regarded as genes related to muscle growth and meat tenderness.
|
28713829 |
2017 |
|
Sore to touch
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Meat tenderness and inhibitory activity of calpastatin may be associated with divergent temperament indices in zebu cattle.
|
28759886 |
2017 |
|
Sore to touch
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Combining beef cattle data identified correlated SNPs representing CAPN1 (chr29:44 M+) and CAST (chr 7:96 M+) loci affecting beef tenderness, showing pleiotropic effects in dairy cattle.
|
28835686 |
2017 |
|
Sore to touch
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The objectives of this study were to characterize the allelic and genotypic frequencies of polymorphisms in the µ-calpain and calpastatin genes, and to assess their association with meat tenderness and animal growth in Nellore cattle.
|
28218779 |
2017 |