Dilated cardiomyopathy（DCM）is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM...Dilated cardiomyopathy（DCM）is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM concomitant with arrhythmias and sudden death resulting from gene mutation has been widely展开更多
Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical...Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2CI gene was detected by polymerase chain reaction （PCR） and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was coneluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.展开更多
BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly pro...BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo.CONCLUSION A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field.展开更多
Polygonum cuspidatum is used as a traditional medicinal herb for the therapy of various diseases including several types of cancers. In the present study, we focused on addressing the anti-cancer activity and molecula...Polygonum cuspidatum is used as a traditional medicinal herb for the therapy of various diseases including several types of cancers. In the present study, we focused on addressing the anti-cancer activity and molecular mechanism of methanol extract of Polygonum cuspidatum (MEPC) in HSC-2 human oral cancer cells. The effect of MEPC on oral cancer cells was estimated by 3-(4,5-dimethylthiazol-20yl)-(3-carboxymethoxyphenyl)-2-(4-sulphophenyl)-2H-tetrazolium (MTS) assay, 4’-6-diamidino-2-phenylindole (DAPI) staining and Western blot analysis. MEPC inhibited the cell viability and induced apoptosis through the induction of death receptor (DR) 5. MEPC also increased the expression of C/EBP homologous protein/growth arrest and the DNA damage-inducible gene 153 (CHOP), a transcription factor induced by ER stress. Thus, we concluded that the induction of CHOP leading to DR5 up-regulation is required for the anti-cancer activity of MEPC in HSC-2 cells and MEPC may be a promising drug candidate for oral cancer.展开更多
Non-small cell lung cancer (NSCLC) remains to be primary reason of tumor deaths in the past few decades. The mortality of this malignancy could be reduced by developing new prognostic biomarkers and discovering novel ...Non-small cell lung cancer (NSCLC) remains to be primary reason of tumor deaths in the past few decades. The mortality of this malignancy could be reduced by developing new prognostic biomarkers and discovering novel therapeutic biological target. Here, we studied the mRNA expression of FOX gene family and UBE2C in different types of cancer compared with normal tissue through ONCOMINE differential analysis. CCLE analysis was mined to explore the expression profiles of target genes in different tumor cells. GEPIA was used to discover the expression of target genes in different subtypes and the correlations with lung cancer stage. The prognostic values of FOXM1 and UBE2C were further investigated through Kaplan-Meier plotter analysis. It showed that FOXA1, FOXD1 and FOXM1 were dramatically high expressed in NSCLC comparing with normal lung tissues. Besides, the expression of FOXM1 was significantly associated with UBE2C. Furthermore, the overexpression of FOXM1 and UBE2C were correlated to shorter survival in lung adenocarcinoma (LAC) instead of lung squamous cell carcinoma (LSCC). Hence, we could draw a conclusion that FOXM1 and UBE2C are distinguished biomarkers and crucial prognostic indicators for lung adenocarcinoma patients.展开更多
Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pe...Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People’s Hospital of Qingdao展开更多
基金the funds of "the Youth Fund of Nantong Health Bureau 2015",ID:WQ2015009
文摘Dilated cardiomyopathy（DCM）is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM concomitant with arrhythmias and sudden death resulting from gene mutation has been widely
文摘Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2CI gene was detected by polymerase chain reaction （PCR） and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was coneluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
文摘BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo.CONCLUSION A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field.
文摘Polygonum cuspidatum is used as a traditional medicinal herb for the therapy of various diseases including several types of cancers. In the present study, we focused on addressing the anti-cancer activity and molecular mechanism of methanol extract of Polygonum cuspidatum (MEPC) in HSC-2 human oral cancer cells. The effect of MEPC on oral cancer cells was estimated by 3-(4,5-dimethylthiazol-20yl)-(3-carboxymethoxyphenyl)-2-(4-sulphophenyl)-2H-tetrazolium (MTS) assay, 4’-6-diamidino-2-phenylindole (DAPI) staining and Western blot analysis. MEPC inhibited the cell viability and induced apoptosis through the induction of death receptor (DR) 5. MEPC also increased the expression of C/EBP homologous protein/growth arrest and the DNA damage-inducible gene 153 (CHOP), a transcription factor induced by ER stress. Thus, we concluded that the induction of CHOP leading to DR5 up-regulation is required for the anti-cancer activity of MEPC in HSC-2 cells and MEPC may be a promising drug candidate for oral cancer.
文摘Non-small cell lung cancer (NSCLC) remains to be primary reason of tumor deaths in the past few decades. The mortality of this malignancy could be reduced by developing new prognostic biomarkers and discovering novel therapeutic biological target. Here, we studied the mRNA expression of FOX gene family and UBE2C in different types of cancer compared with normal tissue through ONCOMINE differential analysis. CCLE analysis was mined to explore the expression profiles of target genes in different tumor cells. GEPIA was used to discover the expression of target genes in different subtypes and the correlations with lung cancer stage. The prognostic values of FOXM1 and UBE2C were further investigated through Kaplan-Meier plotter analysis. It showed that FOXA1, FOXD1 and FOXM1 were dramatically high expressed in NSCLC comparing with normal lung tissues. Besides, the expression of FOXM1 was significantly associated with UBE2C. Furthermore, the overexpression of FOXM1 and UBE2C were correlated to shorter survival in lung adenocarcinoma (LAC) instead of lung squamous cell carcinoma (LSCC). Hence, we could draw a conclusion that FOXM1 and UBE2C are distinguished biomarkers and crucial prognostic indicators for lung adenocarcinoma patients.
文摘Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People’s Hospital of Qingdao
