Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified

ConclusionThis study contributes to the enlargement of the mutational spectrum of theATP7B gene among the population of China and highlights the significance of genetic testing for asymptomatic patients.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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ConclusionsWD patients in eastern India have significant genotypic and phenotypic diversity. Statistical methods for binary classification show some early promise of detecting common mutations and suggest important covariates, but further studies with larger samples and screening of remaining exons are warranted for understanding the full genetic landscape of Wilson disease.
Source: Acta Neurologica Belgica - Category: Neurology Source Type: research
World J Hepatol. 2021 Sep 27;13(9):1154-1166. doi: 10.4254/wjh.v13.i9.1154.ABSTRACTThe gut-liver axis plays an important role in the pathogenesis of various liver diseases. Probiotics are living bacteria that may be used to correct disorders of this axis. Notable progress has been made in the study of probiotic drugs for the treatment of various liver diseases in the last decade. It has been proven that probiotics are useful for hepatic encephalopathy, but their effects on other symptoms and syndromes of cirrhosis are poorly studied. Their effectiveness in the treatment of metabolic associated fatty liver disease has been ...
Source: World Journal of Hepatology - Category: Gastroenterology Authors: Source Type: research
Am J Pathol. 2021 Oct 7:S0002-9440(21)00435-1. doi: 10.1016/j.ajpath.2021.09.010. Online ahead of print.ABSTRACTWilson disease (WND) is caused by inactivation of the copper (Cu) transporter ATP7B and Cu accumulation in tissues. WND presentations vary from liver steatosis to inflammation, fibrosis, and liver failure. Diets influence the liver phenotype in WND, but findings are inconsistent. To better understand the impact of excess calories on liver phenotype in WND, we compared C57BL/6J Atp7b-/- and C57BL/6J mice fed for 12 weeks with Western diet or normal chow. Serum and liver metabolites, body fat content, liver histolo...
Source: The American Journal of Pathology - Category: Pathology Authors: Source Type: research
Am J Pathol. 2021 Oct 7:S0002-9440(21)00435-1. doi: 10.1016/j.ajpath.2021.09.010. Online ahead of print.ABSTRACTWilson disease (WND) is caused by inactivation of the copper (Cu) transporter ATP7B and Cu accumulation in tissues. WND presentations vary from liver steatosis to inflammation, fibrosis, and liver failure. Diets influence the liver phenotype in WND, but findings are inconsistent. To better understand the impact of excess calories on liver phenotype in WND, we compared C57BL/6J Atp7b-/- and C57BL/6J mice fed for 12 weeks with Western diet or normal chow. Serum and liver metabolites, body fat content, liver histolo...
Source: The American Journal of Pathology - Category: Pathology Authors: Source Type: research
Am J Pathol. 2021 Oct 7:S0002-9440(21)00435-1. doi: 10.1016/j.ajpath.2021.09.010. Online ahead of print.ABSTRACTWilson disease (WND) is caused by inactivation of the copper (Cu) transporter ATP7B and Cu accumulation in tissues. WND presentations vary from liver steatosis to inflammation, fibrosis, and liver failure. Diets influence the liver phenotype in WND, but findings are inconsistent. To better understand the impact of excess calories on liver phenotype in WND, we compared C57BL/6J Atp7b-/- and C57BL/6J mice fed for 12 weeks with Western diet or normal chow. Serum and liver metabolites, body fat content, liver histolo...
Source: Am J Pathol - Category: Pathology Authors: Source Type: research
Am J Pathol. 2021 Oct 7:S0002-9440(21)00435-1. doi: 10.1016/j.ajpath.2021.09.010. Online ahead of print.ABSTRACTWilson disease (WND) is caused by inactivation of the copper (Cu) transporter ATP7B and Cu accumulation in tissues. WND presentations vary from liver steatosis to inflammation, fibrosis, and liver failure. Diets influence the liver phenotype in WND, but findings are inconsistent. To better understand the impact of excess calories on liver phenotype in WND, we compared C57BL/6J Atp7b-/- and C57BL/6J mice fed for 12 weeks with Western diet or normal chow. Serum and liver metabolites, body fat content, liver histolo...
Source: Am J Pathol - Category: Pathology Authors: Source Type: research
Am J Pathol. 2021 Oct 7:S0002-9440(21)00435-1. doi: 10.1016/j.ajpath.2021.09.010. Online ahead of print.ABSTRACTWilson disease (WND) is caused by inactivation of the copper (Cu) transporter ATP7B and Cu accumulation in tissues. WND presentations vary from liver steatosis to inflammation, fibrosis, and liver failure. Diets influence the liver phenotype in WND, but findings are inconsistent. To better understand the impact of excess calories on liver phenotype in WND, we compared C57BL/6J Atp7b-/- and C57BL/6J mice fed for 12 weeks with Western diet or normal chow. Serum and liver metabolites, body fat content, liver histolo...
Source: Am J Pathol - Category: Pathology Authors: Source Type: research
Am J Pathol. 2021 Oct 7:S0002-9440(21)00435-1. doi: 10.1016/j.ajpath.2021.09.010. Online ahead of print.ABSTRACTWilson disease (WND) is caused by inactivation of the copper (Cu) transporter ATP7B and Cu accumulation in tissues. WND presentations vary from liver steatosis to inflammation, fibrosis, and liver failure. Diets influence the liver phenotype in WND, but findings are inconsistent. To better understand the impact of excess calories on liver phenotype in WND, we compared C57BL/6J Atp7b-/- and C57BL/6J mice fed for 12 weeks with Western diet or normal chow. Serum and liver metabolites, body fat content, liver histolo...
Source: The American Journal of Pathology - Category: Pathology Authors: Source Type: research
Acta Histochem. 2021 Oct 7;123(7):151795. doi: 10.1016/j.acthis.2021.151795. Online ahead of print.ABSTRACTLiver diseases pose a big global health problem and liver failure may result from viral infection, overnutrition or tumors. Studying pathologic liver tissue demands for accurate and specific histological stainings and immunohistochemical labellings, including chromogenic and fluorescent approaches. Moreover, a reliable set of healthy liver stainings and labellings are required, to provide a baseline or reference for the pathological situation. Here, we used the liver tissue of a healthy rabbit and compared different h...
Source: Acta Histochemica - Category: Biochemistry Authors: Source Type: research
Curr Stem Cell Res Ther. 2021 Oct 6. doi: 10.2174/1574888X16666211006111556. Online ahead of print.ABSTRACTWilson disease (WD) is a copper excretion disorder, mainly caused by mutations in the ATP7B gene. Pharmacological therapies and liver transplantation are currently the main treatment methods for WD, but they face problems such as drug treatment compliance, adverse reactions, and shortage of liver donors. Stem cell therapy of WD may correct abnormal copper metabolism permanently, which is the focus of current research. In this review, we summarized the latest research on stem cells treatment for WD, as well as current ...
Source: Current Stem Cell Research and Therapy - Category: Stem Cells Authors: Source Type: research
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