相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers
Charles E. Mordaunt et al.
EPIGENETICS & CHROMATIN (2019)
Environmental factors influence the epigenetic signature of newborns from mothers with gestational diabetes
Emil Andersen et al.
EPIGENOMICS (2019)
The roles of DNA, RNA and histone methylation in ageing and cancer
Ewa M. Michalak et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
Genetics and epigenetic factors of Wilson disease
Valentina Medici et al.
ANNALS OF TRANSLATIONAL MEDICINE (2019)
The Mechanisms Underlying the Cytotoxic Effects of Copper Via Differentiated Embryonic Chondrocyte Gene 1
Ssu-Yu Chen et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes
Tagreed A. Mazi et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Liver pathology in Wilson's disease: From copper overload to cirrhosis
C. Gerosa et al.
JOURNAL OF INORGANIC BIOCHEMISTRY (2019)
Chelating principles in Menkes and Wilson diseases Choosing the right compounds in the right combinations at the right time
Nina Horn et al.
JOURNAL OF INORGANIC BIOCHEMISTRY (2019)
A High-Calorie Diet Aggravates Mitochondrial Dysfunction and Triggers Severe Liver Damage in Wilson Disease Rats
Claudia Einer et al.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY (2019)
Mitochondrial copper homeostasis and its derailment in Wilson disease
Hans Zischka et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2018)
Identification of differentially methylated region (DMR) networks associated with progression of nonalcoholic fatty liver disease
Kikuko Hotta et al.
SCIENTIFIC REPORTS (2018)
CpG and Non-CpG Methylation in Epigenetic Gene Regulation and Brain Function
Hyun Sik Jang et al.
GENES (2017)
Salivary biomarkers and proteomics: future diagnostic and clinical utilities
M. Castagnola et al.
ACTA OTORHINOLARYNGOLOGICA ITALICA (2017)
Geographic distribution of ATP7B mutations in Wilson disease
Amanda Gomes et al.
ANNALS OF HUMAN BIOLOGY (2016)
Wilson Disease: Epigenetic effects of choline supplementation on phenotype and clinical course in a mouse model
Valentina Medici et al.
EPIGENETICS (2016)
Long-term metabolic correction of Wilson's disease in a murine model by gene therapy
Oihana Murillo et al.
JOURNAL OF HEPATOLOGY (2016)
Chemical features of in use and in progress chelators for iron overload
Valeria Marina Nurchi et al.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY (2016)
Proteomic investigation of whole saliva in Wilson's disease
Tiziana Cabras et al.
JOURNAL OF PROTEOMICS (2015)
Aluminum exposure and toxicity in neonates: sources, absorption, and retention
Daniela Fanni et al.
WORLD JOURNAL OF PEDIATRICS (2015)
Expression of ATP7B in normal human liver
D Fanni et al.
EUROPEAN JOURNAL OF HISTOCHEMISTRY (2015)
Effects of Iron and Copper Overload on the Human Liver: An Ultrastructural Study
D. Fanni et al.
CURRENT MEDICINAL CHEMISTRY (2014)
Concordance rates of Wilson's disease phenotype among siblings
Grzegorz Chabik et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Genotype-Phenotype Correlations in a Mountain Population Community with High Prevalence of Wilson's Disease: Genetic and Clinical Homogeneity
Relu Cocos et al.
PLOS ONE (2014)
Phenotype-Genotype Correlation in Wilson Disease in a Large Lebanese Family: Association of c.2299insC with Hepatic and of p. Ala1003Thr with Neurologic Phenotype
Julnar Usta et al.
PLOS ONE (2014)
Aluminum exposure and toxicity in neonates: a practical guide to halt aluminum overload in the prenatal and perinatal periods
Daniela Fanni et al.
WORLD JOURNAL OF PEDIATRICS (2014)
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy
Diego Martinelli et al.
BRAIN (2013)
Histologic evolution and long-term outcome of Wilson's disease: results of a single-center experience
Margherita Sini et al.
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY (2013)
Wilson's Disease: Changes in Methionine Metabolism and Inflammation Affect Global DNA Methylation in Early Liver Disease
Valentina Medici et al.
HEPATOLOGY (2013)
TET enzymes, TDG and the dynamics of DNA demethylation
Rahul M. Kohli et al.
NATURE (2013)
The acute haemolytic syndrome in Wilson's disease-a review of 22 patients
J. M. Walshe
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2013)
Samuel Alexander Kinnier Wilson. Wilson's disease, Queen Square and neurology
E. Broussolle et al.
REVUE NEUROLOGIQUE (2013)
Histone methylation: a dynamic mark in health, disease and inheritance
Eric L. Greer et al.
NATURE REVIEWS GENETICS (2012)
Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein
Arnab Gupta et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
The eye in Wilson disease
J. M. Walshe
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2011)
Pathology of the Liver in Copper Overload
Melanie Johncilla et al.
SEMINARS IN LIVER DISEASE (2011)
Fulminant Wilson's Disease Requiring Liver Transplantation in One Monozygotic Twin Despite Identical Genetic Mutation
K. M. Kegley et al.
AMERICAN JOURNAL OF TRANSPLANTATION (2010)
Copper-related diseases: From chemistry to molecular pathology
Guido Crisponi et al.
COORDINATION CHEMISTRY REVIEWS (2010)
Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509.
A. Compston
BRAIN (2009)
High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs
Zappu Antonietta et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2008)
Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease
Uta Merle et al.
ARCHIVES OF NEUROLOGY (2006)
Genotype-phenotype correlation of the Wilson disease ATP7B gene
L Leggio et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing
Peter Ferenci
HUMAN GENETICS (2006)
Brain copper, iron, magnesium, zinc, calcium, sulfur and phosphorus storage in Wilson's disease
G Faa et al.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY (2001)
Wilson's disease with late onset
L Pilloni et al.
DIGESTIVE AND LIVER DISEASE (2000)