Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P04637 (p53)
 77,613 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital hemangiomas are tumor-like vascular malformations with poorly understood pathogenesis. We report the case of a neonate with a massive congenital scalp hemangioma that required urgent neurosurgical removal on the second day of life because of concern for high-flow arteriovenous shunting. Exome sequencing identified a rare damaging de novo germline mutation in MYH9 (c.5308C>T, p.[Arg1770Cys]), encoding the MYH9 nonmuscle myosin IIA. MYH9 has a probability of loss-of-function intolerance (pLI) score of >0.99 and is highly intolerant to missense variation (z score = 5.59). The p.(Arg1770Cys) mutation substitutes an evolutionarily conserved amino acid in the protein's critical myosin tail domain and is predicted to be highly deleterious by SIFT, PolyPhen-2, MetaSVM, and CADD. MYH9 is a known regulator of cytokinesis, VEGF-regulated angiogenesis, and p53-dependent tumorigenesis. These findings reveal a novel association of germline de novo MYH9 mutation with congenital hemangioma.
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PMID:De novo MYH9 mutation in congenital scalp hemangioma. 2990 92

This study aimed to investigate the correlation between CT features and liver function and p53 expression in hepatitis, cirrhosis and hepatocellular carcinoma (HCC). Forty patients with HCC, 30 patients with cirrhosis and 30 patients with chronic hepatitis were enrolled between December, 2015 and December, 2016. At the same time, normal liver tissues collected from 30 patients with hepatic hemangioma were used as the normal control group. All the patients were scanned by CT. Average body surface area, left outer lobe and caudate lobe volume, and the proportions of left outer lobe and caudate lobe to the whole liver were calculated. Biochemical indexes of liver function were determined. The pathological tissues of all the subjects were analyzed. Compared with the control group, total liver volume of the HCC group was significantly reduced (P<0.05). Compared with the HCC group, the volume of the left outer lobe increased in the hepatitis group and the cirrhosis group. Compared with control group, caudate lobe volume increased significantly in the hepatitis group (P<0.05). Compared with the control group, the volume of the left outer lobe and the proportion of caudate lobe to the whole liver volume was significantly increased in all three groups (P<0.05). Liver function-related indicators in the HCC and cirrhosis groups were significantly different from those in the control group (P<0.05). The expression level of p53 in HCC was significantly higher than that in the control group (P<0.05). The accuracy of diagnosis by using both p53 and CT was higher than the use of p53 or CT alone. CT can accurately measure the volume of each lobe of the liver, and p53 has important clinical values in the diagnosis of liver diseases. Thus, the reasonable combination of the two can effectively improve the diagnostic accuracy.
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PMID:Correlation between CT features and liver function and p53 expression in hepatitis, cirrhosis and hepatocellular carcinoma. 3021 64

Avian leukosis virus subgroup J has been found to infect many types of chickens with various genetic backgrounds. The ALV-J strain NX0101, which was isolated from broiler breeders in 2001, mainly induces the formation of myeloid cell tumors. However, strain HN10PY01, which was recently isolated from laying hens, mainly induces the formation of myeloid cell tumors and hemangioma. In order to determine the difference in pathogenicity of the 2 strains in broiler chickens, 2 groups of chicken embryos were infected with NA0101 and HN10PY01 separately. A comparison was made of the mortality, oncogenicity, body weights, indexes for immune organs, levels of ALV group-specific antigen p27, and mRNA expression levels of the tumor-related gene, p53, in ALV-J-infected birds and immune organs of theses chickens in response to Newcastle Disease Virus (NDV) and avian influenza virus subtype H9 (AIV-H9) vaccination. The results indicated that strain NX0101 was highly pathogenic in broiler chickens and led to a 30% mortality rate and 45% oncogenicity, compared with the HN10PY01-infected birds. Weight of chickens was also significantly lower after 15 wk (P < 0.05). In addition, the mRNA expression levels of tumor-related p53 in medulla, liver, and lung in broilers infected with strain NX0101 were significantly higher than those infected with strain HN10PY01 (P < 0.05). These results indicated that strain NX0101 had a higher replication ability in broiler chickens. The findings of this study will contribute to further elucidating the mechanisms underlying host susceptibility and tumor classification in ALV-J-infected chickens.
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PMID:Difference in pathogenicity of 2 strains of avian leukosis virus subgroup J in broiler chicken. 3076 38


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