scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1001508933 |
P356 | DOI | 10.1038/NG1293-344 |
P698 | PubMed publication ID | 8298641 |
P5875 | ResearchGate publication ID | 260198819 |
P2093 | author name string | K Petrukhin | |
L M Brzustowicz | |||
B Ross | |||
E Parano | |||
R E Tanzi | |||
L Pavone | |||
W Wasco | |||
I Chernov | |||
D M Romano | |||
J L Pellequer | |||
P2860 | cites work | Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction | Q25938986 |
Basic local alignment search tool | Q25938991 | ||
A comprehensive set of sequence analysis programs for the VAX | Q26778432 | ||
A simple method for displaying the hydropathic character of a protein | Q26778481 | ||
Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins | Q27860987 | ||
Prediction of protein conformation | Q28240456 | ||
Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library | Q28264112 | ||
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein | Q28269062 | ||
Isolation of a partial candidate gene for Menkes disease by positional cloning | Q28269072 | ||
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase | Q28269082 | ||
Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein | Q29547803 | ||
The cadC gene product of alkaliphilic Bacillus firmus OF4 partially restores Na+ resistance to an Escherichia coli strain lacking an Na+/H+ antiporter (NhaA) | Q30983628 | ||
Cadmium resistance from Staphylococcus aureus plasmid pI258 cadA gene results from a cadmium-efflux ATPase | Q33856279 | ||
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. | Q34348948 | ||
The hydrophobic moment detects periodicity in protein hydrophobicity | Q36245139 | ||
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus | Q37680904 | ||
Hydrophobicity scales and computational techniques for detecting amphipathic structures in proteins | Q42660547 | ||
A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5.1 centimorgans | Q46736355 | ||
Evidence for linkage between Wilson disease and esterase D in three kindreds: detection of linkage for an autosomal recessive disorder by the family study method | Q48409772 | ||
PROGRESSIVE LENTICULAR DEGENERATION: A FAMILIAL NERVOUS DISEASE ASSOCIATED WITH CIRRHOSIS OF THE LIVER | Q55921805 | ||
Predictive testing for Wilson's disease using tightly linked and flanking DNA markers | Q57319149 | ||
Bacterial resistance ATPases: primary pumps for exporting toxic cations and anions | Q69297694 | ||
Correlation between the location of antigenic sites and the prediction of turns in proteins | Q72090041 | ||
Allelic association and linkage studies in Wilson disease | Q72658336 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | copper | Q753 |
Wilson disease | Q117121 | ||
ATPase copper transporting beta | Q419611 | ||
Menkes disease | Q639203 | ||
P304 | page(s) | 344-50 | |
P577 | publication date | 1993-12-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene | |
P478 | volume | 5 |
Q42044466 | 2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling |
Q57405678 | 7 Menkes and Wilson Diseases |
Q86871458 | A Study on Apoptosis and Anti-apoptotic Status in Wilson Disease |
Q47693161 | A marked increase in free copper levels in the plasma and liver of LEC rats: an animal model for Wilson disease and liver cancer |
Q44419917 | A mutation in the ATP7B copper transporter causes reduced dopamine beta-hydroxylase and norepinephrine in mouse adrenal |
Q28287958 | A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans |
Q82277095 | A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia |
Q73131079 | A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease |
Q28576397 | A novel pineal night-specific ATPase encoded by the Wilson disease gene |
Q98611606 | A population-based epidemiology of Wilson's disease in South Korea between 2010 and 2016 |
Q30907824 | A review and current perspective on Wilson disease |
Q73544266 | A strong loss-of-function mutation in RAN1 results in constitutive activation of the ethylene response pathway as well as a rosette-lethal phenotype |
Q59511792 | A study of Wilson disease mutations in Britain |
Q36964471 | A systems approach implicates nuclear receptor targeting in the Atp7b(-/-) mouse model of Wilson's disease |
Q34111553 | ACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring |
Q42819074 | ATP-dependent copper transport by the Menkes protein in membrane vesicles isolated from cultured Chinese hamster ovary cells |
Q34476659 | ATP7B (WND) protein |
Q47130958 | ATP7B expression in human glioblastoma is related to temozolomide resistance |
Q36216613 | ATP7B expression is associated with in vitro sensitivity to cisplatin in non-small cell lung cancer |
Q24304281 | ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion |
Q77223706 | Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B |
Q24564471 | Aceruloplasminemia: molecular characterization of this disorder of iron metabolism |
Q33584015 | Acquired hepatocerebral degeneration: clinical characteristics and MRI findings |
Q90193916 | Activity and Trafficking of Copper-Transporting ATPases in Tumor Development and Defense against Platinum-Based Drugs |
Q73588348 | Acylphosphate formation by the Menkes copper ATPase |
Q71605598 | Adenosine triphosphate-dependent copper transport in human liver |
Q40341697 | Adenosine triphosphate-dependent copper transport in isolated rat liver plasma membranes |
Q36478429 | Advance in the pathogenesis and treatment of Wilson disease |
Q38994399 | Age-dependent changes of cerebral copper metabolism in Atp7b -/- knockout mouse model of Wilson's disease by [64Cu]CuCl2-PET/CT. |
Q47824838 | Alteration of Copper Fluxes in Brain Aging: A Longitudinal Study in Rodent Using 64CuCl2-PET/CT. |
Q24300450 | Alteration of copper physiology in mice overexpressing the human Menkes protein ATP7A |
Q41824118 | An NMR study of the interaction of the N-terminal cytoplasmic tail of the Wilson disease protein with copper(I)-HAH1. |
Q37127652 | An exceptional family with three consecutive generations affected by Wilson disease. |
Q38259361 | An overview of various mammalian models to study chronic copper intoxication associated Alzheimer's disease like pathology. |
Q98303347 | Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties |
Q47881123 | Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae |
Q54567933 | Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity. |
Q48216192 | Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset |
Q28267679 | Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients |
Q38127360 | Analytical methods for copper, zinc and iron quantification in mammalian cells |
Q87856800 | Animal models of Wilson disease |
Q38702726 | Antioxidant and Metal Chelation-Based Therapies in the Treatment of Prion Disease. |
Q38007323 | Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism |
Q42791835 | Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease |
Q93120047 | Association of the canine ATP7A and ATP7B with hepatic copper accumulation in Dobermann dogs |
Q72094221 | At long last: an animal model of Wilson's disease |
Q33743032 | Atypical neuroimaging in Wilson's disease |
Q89650424 | Ayurvedic approach for management of Wilson's disease: A case report |
Q38910492 | Bacterial Cu(+)-ATPases: models for molecular structure-function studies. |
Q33881922 | Bile formation and secretion |
Q24323546 | Biochemical characterization and intracellular localization of the Menkes disease protein |
Q27021310 | Biochemical characterization of P-type copper ATPases |
Q41093095 | Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae |
Q28255435 | Biology, structure and mechanism of P-type ATPases |
Q34286377 | Bipolar disorders and Wilson's disease. |
Q35173677 | Bone mineralization in children with Wilson's disease |
Q24303630 | COMMD1 downregulates the epithelial sodium channel through Nedd4-2 |
Q31081641 | COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis |
Q56518902 | CPx-type ATPases: a class of P-type ATPases that pump heavy metals |
Q26767292 | Canine Models for Copper Homeostasis Disorders |
Q35745611 | Canine models of copper toxicosis for understanding mammalian copper metabolism |
Q36908105 | Cardiac involvement in hereditary ataxias |
Q73611333 | Carrier detection and presymptomatic identification of Wilson disease in Chinese by non-isotopic linkage analysis with four short tandem repeat polymorphisms |
Q36292959 | Cell-specific trafficking suggests a new role for renal ATP7B in the intracellular copper storage |
Q37224606 | Ceruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study |
Q37357207 | Ceruloplasmin gene expression in the murine central nervous system |
Q28263731 | Chapter 33: the history of movement disorders |
Q24311936 | Characterization of COMMD protein-protein interactions in NF-kappaB signalling |
Q50335648 | Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. |
Q54485533 | Characterization of copABCD operon from a copper-sensitive Pseudomonas putida strain. |
Q40942795 | Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization |
Q22010567 | Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p |
Q28208536 | Childhood dystonia |
Q92620527 | Classification and differential diagnosis of Wilson's disease |
Q34280752 | Clinical Application of Liver MR Imaging in Wilson's Disease |
Q33789624 | Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations. |
Q64964935 | Clinical management of Wilson disease. |
Q24679692 | Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study |
Q30754986 | Cloning and expression analysis of the sheep ceruloplasmin cDNA. |
Q72751011 | Cloning the Wilson disease gene |
Q47870064 | Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue |
Q36724571 | Comparative study of biliary trace elements and clinical phenotypes in Wilson's disease |
Q48822016 | Compliant treatment with anti-copper agents prevents clinically overt Wilson's disease in pre-symptomatic patients |
Q36602678 | Compound overload of copper and iron in patients with Wilson's disease |
Q23914175 | Conference overview: molecular mechanisms of metal toxicity and carcinogenesis |
Q45190522 | Conservation and diversity of the Helicobacter pylori copper-transporting ATPase gene (copA) sequence among Helicobacter species and Campylobacter species detected by PCR and RFLP. |
Q42479770 | Cooperative binding of copper(I) to the metal binding domains in Menkes disease protein |
Q41179659 | Copper Induces Apoptosis of Neuroblastoma Cells Via Post-translational Regulation of the Expression of Bcl-2-family Proteins and the tx Mouse is a Better Model of Hepatic than Brain Cu Toxicity |
Q47757894 | Copper and ceruloplasmin metabolism in the LEC rat, an animal model for Wilson disease |
Q34622201 | Copper and human health: biochemistry, genetics, and strategies for modeling dose-response relationships |
Q34317924 | Copper and prion disease |
Q30417715 | Copper binding to mouse liver S-adenosylhomocysteine hydrolase and the effects of copper on its levels. |
Q24300903 | Copper binding to the N-terminal metal-binding sites or the CPC motif is not essential for copper-induced trafficking of the human Wilson protein (ATP7B) |
Q91976829 | Copper chaperone ATOX1 is required for MAPK signaling and growth in BRAF mutation-positive melanoma |
Q51650805 | Copper comes of age in Melbourne. |
Q40871230 | Copper deficiency and heart disease: molecular basis, recent advances and current concepts |
Q73581016 | Copper homeostasis in Enterococcus hirae |
Q34317928 | Copper in disorders with neurological symptoms: Alzheimer's, Menkes, and Wilson diseases. |
Q53252035 | Copper incorporation into ceruloplasmin is regulated by Niemann-Pick C1 protein. |
Q71763192 | Copper incorporation into superoxide dismutase in Menkes lymphoblasts |
Q38753007 | Copper induces hepatocyte injury due to the endoplasmic reticulum stress in cultured cells and patients with Wilson disease |
Q35605615 | Copper metabolism after living related liver transplantation for Wilson's disease |
Q56552176 | Copper metabolism and inherited copper transport disorders: molecular mechanisms, screening, and treatment |
Q40764085 | Copper pumping ATPases: common concepts in bacteria and man. |
Q40998342 | Copper resistant human hepatoblastoma mutant cell lines without metallothionein induction overexpress ATP7B. |
Q42507758 | Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase |
Q33867155 | Copper toxicosis gene MURR1 is not changed in Wilson disease patients with normal blood ceruloplasmin levels. |
Q41374951 | Copper transport and its alterations in Menkes and Wilson diseases. |
Q31388417 | Copper transport and its defect in Wilson disease: characterization of the copper-binding domain of Wilson disease ATPase |
Q38942904 | Copper transporters and chaperones: Their function on angiogenesis and cellular signalling |
Q28204507 | Copper transporting P-type ATPases and human disease |
Q47843934 | Copper(I)-binding properties of de-coppering drugs for the treatment of Wilson disease. α-Lipoic acid as a potential anti-copper agent |
Q34982956 | Copper-dependent functions for the prion protein |
Q37949685 | Copper-induced hepatitis: the COMMD1 deficient dog as a translational animal model for human chronic hepatitis |
Q39923012 | Copper-induced translocation of the Wilson disease protein ATP7B independent of Murr1/COMMD1 and Rab7. |
Q38595885 | Copper-transporting ATPases: The evolutionarily conserved machineries for balancing copper in living systems |
Q36669382 | Copper: not too little, not too much, but just right. Based on the triennial Pewterers Lecture delivered at the National Hospital for Neurology, London, on 23 March 1995. |
Q40995220 | Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases. |
Q40696636 | Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase |
Q37885803 | Cryptogenic chronic hepatitis and its changing guise in adults |
Q35593984 | Current and future therapy in haemochromatosis and Wilson's disease |
Q47781903 | Cytoplasmic Copper Detoxification in Salmonella Can Contribute to SodC Metalation but Is Dispensable during Systemic Infection |
Q46592996 | D-Penicillamine improved laparoscopic and histological findings of the liver in a patient with Wilson's disease: 3-year follow-up after diagnosis of Coombs-negative hemolytic anemia of Wilson's disease |
Q45907060 | D-penicillamine treatment of copper-associated hepatitis in Labrador retrievers. |
Q28511949 | Decreased carbonic anhydrase III levels in the liver of the mouse mutant 'toxic milk' (tx) due to copper accumulation |
Q45341390 | Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms |
Q72058991 | Defective copper binding to apo‐ceruloplasmin in a rat model and patients with Wilson's disease |
Q28592976 | Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation |
Q36662522 | Delivery of the Cu-transporting ATPase ATP7B to the plasma membrane in Xenopus oocytes |
Q48163011 | Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency. |
Q34227959 | Diagnosis and phenotypic classification of Wilson disease |
Q34782089 | Diagnosis and treatment of Wilson disease: an update |
Q74226600 | Diagnosis and treatment of Wilson's disease |
Q37101521 | Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis |
Q35359250 | Diagnosis of Wilson's disease: an experience over three decades |
Q33734674 | Diagnosis of inherited metabolic disorders affecting the nervous system |
Q36351891 | Dietary copper triggers onset of fulminant hepatitis in the Long-Evans cinnamon rat model. |
Q44763480 | Differential gene expression and bioinformatics analysis of copper resistance gene afe_1073 in Acidithiobacillus ferrooxidans |
Q28649649 | DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes |
Q28272595 | Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease |
Q40071443 | Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. |
Q40058916 | Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells. |
Q47864682 | Dynamic changes in copper homeostasis and post-transcriptional regulation of Atp7a during myogenic differentiation |
Q34291485 | EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts |
Q45293985 | EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias |
Q50481563 | EGFP tags affect cellular localization of ATP7B mutants. |
Q51888155 | Early and presymptomatic detection of Wilson's disease at the mandatory 3-year-old medical health care examination in Hokkaido Prefecture with the use of a novel automated urinary ceruloplasmin assay. |
Q46906546 | Effect of penicillamine and zinc on iron metabolism in Wilson's disease |
Q64119419 | Effects of Xiaoyaosan on the Hippocampal Gene Expression Profile in Rats Subjected to Chronic Immobilization Stress |
Q35961398 | Eighteen living related liver transplants for Wilson's disease: a single-center |
Q28743427 | Elucidation of the ATP7B N-domain Mg2+-ATP coordination site and its allosteric regulation |
Q36302828 | Emerging drugs for idiopathic pulmonary fibrosis |
Q24619970 | Endemic pemphigus foliaceus over a century: Part I |
Q34221631 | Enhanced secretion of glycocholic acid in a specially adapted cell line is associated with overexpression of apparently novel ATP-binding cassette proteins |
Q33986172 | Enhancing tumor-specific uptake of the anticancer drug cisplatin with a copper chelator |
Q51275644 | Erythrocyte copper chaperone for superoxide dismutase and superoxide dismutase as biomarkers for hepatic copper concentrations in Labrador retrievers. |
Q82615368 | Evaluation of powder mixtures and hydrophilic gastroretentive drug delivery systems containing zinc acetate and sodium bicarbonate |
Q34125918 | Evidence for cooperativity between the four binding sites of dimeric ArsD, an As(III)-responsive transcriptional regulator |
Q35098831 | Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration |
Q64383237 | Excess copper and ceruloplasmin biosynthesis in long-term cultured hepatocytes from Long-Evans Cinnamon (LEC) rats, a model of Wilson disease |
Q42967319 | Expression of Menkes disease gene in mammary carcinoma cells. |
Q57905859 | Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels |
Q42036873 | Expression of the Wilson disease gene is deficient in the Long-Evans Cinnamon rat. |
Q48120626 | Expression profile of the copper homeostasis gene, rAtox1, in the rat brain |
Q57996311 | Expression, Purification, and Metal Binding Properties of the N-terminal Domain from the Wilson Disease Putative Copper-transporting ATPase (ATP7B) |
Q38320436 | Expression, purification and copper-binding studies of the first metal-binding domain of Menkes protein. |
Q33860215 | Fas and Fas ligand in gut and liver |
Q84915248 | Fatty liver and anti-oxidant enzyme activities along with peroxisome proliferator-activated receptors γ and α expressions in the liver of Wilson's disease |
Q37605999 | Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review |
Q73130045 | Frequency of His1069Gln and Gly1267Lys mutations in Polish Wilson's disease population |
Q55002792 | Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease. |
Q38774848 | Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines. |
Q38297342 | Functional analysis of chimeric proteins of the Wilson Cu(I)-ATPase (ATP7B) and ZntA, a Pb(II)/Zn(II)/Cd(II)-ATPase from Escherichia coli |
Q48261472 | Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B. |
Q51037726 | Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B. |
Q28118944 | Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? |
Q33558941 | Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation |
Q40772654 | Functional properties of the copper-transporting ATPase ATP7B (the Wilson's disease protein) expressed in insect cells |
Q40185193 | Gene expression profiling of liver cells after copper overload in vivo and in vitro reveals new copper-regulated genes |
Q73127890 | Gene regulation by copper and the basis for copper homeostasis |
Q73573287 | Gene table: adult and paediatric movement disorders |
Q42951282 | Genes of the copper pathway. |
Q52182186 | Genes regulating copper metabolism. |
Q48542680 | Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B. |
Q64066022 | Genetic analysis of ATP7B in 102 south Indian families with Wilson disease |
Q44397541 | Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease |
Q36828253 | Genetic background of Japanese patients with adult-onset storage diseases in the liver |
Q34569766 | Genetic dissection of nutritional copper signaling in chlamydomonas distinguishes regulatory and target genes |
Q33846652 | Genetic liver disease in adults. Early recognition of the three most common causes |
Q79293274 | Genetic variation in the promoter and 5′ UTR of the copper transporter, ATP7B, in patients with Wilson disease |
Q92620500 | Genetics and epigenetic factors of Wilson disease |
Q38039981 | Genetics of Wilson's disease: a clinical perspective |
Q40643115 | Genomic studies of gene expression: regulation of the Wilson disease gene |
Q38553471 | Geographic distribution of ATP7B mutations in Wilson disease |
Q33676840 | H714Q mutation in Wilson disease is associated with late, neurological presentation |
Q24321373 | HAH1 is a copper-binding protein with distinct amino acid residues mediating copper homeostasis and antioxidant defense |
Q78553635 | HFE gene mutations and iron metabolism in Wilson's disease |
Q35250567 | Haplotype and mutation analysis in Japanese patients with Wilson disease |
Q35642943 | Haplotypes and mutations in Wilson disease. |
Q41050773 | Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation |
Q74095724 | Hepatic copper concentration in children undergoing living related liver transplantation due to Wilsonian fulminant hepatic failure |
Q74539672 | Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1/Fas) mediated apoptosis |
Q53458734 | Hepatocellular carcinoma induction in LEC rats by a low dose of 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline. |
Q34512014 | Hepatocellular transport proteins and their role in liver disease. |
Q50335650 | Hereditary ceruloplasmin deficiency with hemosiderosis |
Q36823912 | Hereditary iron and copper deposition: diagnostics, pathogenesis and therapeutics |
Q53579211 | High copper selectively alters lipid metabolism and cell cycle machinery in the mouse model of Wilson disease. |
Q37362697 | High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease |
Q33677490 | High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease |
Q77110552 | High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis |
Q37372028 | High yield heterologous expression of wild-type and mutant Cu+-ATPase (ATP7B, Wilson disease protein) for functional characterization of catalytic activity and serine residues undergoing copper-dependent phosphorylation |
Q40207771 | Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cells. |
Q34172003 | Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation |
Q36671000 | Identification and analysis of a Saccharomyces cerevisiae copper homeostasis gene encoding a homeodomain protein. |
Q35249090 | Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses |
Q55278675 | Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report. |
Q28306709 | Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis |
Q38529543 | Identification and functional requirement of Cu(I) and its ligands within coagulation factor VIII. |
Q72017093 | Identification of a Major Hepatic Copper Binding Protein as S-Adenosylhomocysteine Hydrolase |
Q84523508 | Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study |
Q49183271 | Identification of an ATP-dependent copper transport system in endoplasmic reticulum vesicles isolated from rat liver |
Q31035638 | Identification of high-copper-responsive target pathways in Atp7b knockout mouse liver by GSEA on microarray data sets |
Q80516857 | Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease |
Q44289162 | Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease |
Q30864019 | Identification of the copper chaperone SAH in Ovis aries: expression analysis and in vitro interaction of SAH with ATP7B. |
Q47069539 | Identification of the copper chaperone, CUC-1, in Caenorhabditis elegans: tissue specific co-expression with the copper transporting ATPase, CUA-1. |
Q36925207 | Identifying the genetic components underlying the pathophysiology of movement disorders |
Q35841561 | Idiopathic pulmonary fibrosis: emerging concepts on pharmacotherapy |
Q48778199 | Imaging copper metabolism imbalance in Atp7b (-/-) knockout mouse model of Wilson's disease with PET-CT and orally administered 64CuCl2. |
Q28237909 | Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network |
Q47838979 | Immunohistochemical analysis of Mallory bodies in Wilsonian and non-Wilsonian hepatic copper toxicosis |
Q37424997 | Impact of inorganic nutrients on maintenance of genomic stability |
Q50934293 | In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease. |
Q34028117 | Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment |
Q47105991 | Insights into the management of Wilson's disease |
Q35759338 | Intracellular copper does not catalyze the formation of oxidative DNA damage in Escherichia coli |
Q74310623 | Intracellular distribution of the Wilson's disease gene product (ATPase7B) after in vitro and in vivo exogenous expression in hepatocytes from the LEC rat, an animal model of Wilson's disease |
Q78145844 | Intracellular localization of the Menkes and Wilson's disease proteins and their role in intracellular copper transport |
Q74537534 | Iron and copper transport in yeast and its relevance to human disease |
Q21129273 | Iron, hepcidin, and the metal connection |
Q52165503 | Isolation of a murine copper transporter gene, tissue specific expression and functional complementation of a yeast copper transport mutant. |
Q35875026 | Isolation, sequencing, and functional analysis of the TATA-less murine ATPase II promoter and structural analysis of the ATPase II gene |
Q28189009 | Kinetic analysis of the interaction of the copper chaperone Atox1 with the metal binding sites of the Menkes protein |
Q35391010 | Laser ablation inductively coupled plasma mass spectrometry imaging of metals in experimental and clinical Wilson's disease. |
Q89967711 | Late-Onset Wilson's Disease |
Q24561838 | Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking |
Q42038284 | Linkage disequilibrium and haplotype studies of chromosome 8p 11.1-21.1 markers and Werner syndrome. |
Q28570052 | Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide |
Q34230633 | Liver cirrhosis in patients newly diagnosed with neurological phenotype of Wilson's disease |
Q34755462 | Liver function: test selection and interpretation of results |
Q34749046 | Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease |
Q43489829 | Liver structures of a patient with idiopathic copper toxicosis. |
Q35962162 | Liver transplantation for hemochromatosis, Wilson's disease, and other metabolic disorders |
Q38872573 | Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management |
Q39955033 | Localization of the Wilson disease protein in murine intestine. |
Q30639895 | Localization of the Wilson's disease protein in human liver. |
Q37376420 | Localization of the Wilson's disease protein product to mitochondria |
Q43602960 | Long-term outcome in Serbian patients with Wilson disease |
Q42226193 | Longitudinal analysis of serum miR-122 in a rat model of Wilson's disease. |
Q41057657 | Loss of divalent metal transporter 1 function promotes brain copper accumulation and increases impulsivity |
Q34348948 | Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. |
Q72476175 | Measurement of blood holoceruloplasmin by EIA using a mouse monoclonal antibody directed to holoceruloplasmin. Implication for mass screening of Wilson disease |
Q37860152 | Mechanism of tumor resistance to cisplatin mediated by the copper transporter ATP7B. |
Q34170455 | Mechanisms of cholestasis |
Q35831240 | Mechanisms of heavy-metal sequestration and detoxification in crustaceans: a review |
Q40456801 | Mechanisms of metalloregulation of an anion-translocating ATPase |
Q33678640 | Menkes disease: recent advances and new aspects |
Q41056676 | Menkes disease: recent advances and new insights into copper metabolism. |
Q77202765 | Menkes disease: underlying genetic defect and new diagnostic possibilities |
Q73679366 | Metabolic fate of the insoluble copper/tetrathiomolybdate complex formed in the liver of LEC rats with excess tetrathiomolybdate |
Q37957126 | Metal attenuating therapies in neurodegenerative disease |
Q33977164 | Metal ion transport in eukaryotic microorganisms: insights from Saccharomyces cerevisiae |
Q33663264 | Metal ion transporters in mammals: structure, function and pathological implications |
Q34662081 | Metal transporters and disease |
Q42130897 | Methanobactin reverses acute liver failure in a rat model of Wilson disease |
Q37042204 | Microbial peptide de-coppers mitochondria: implications for Wilson disease |
Q64982720 | Mild gait impairment in long-term treated patients with neurological Wilson's disease. |
Q36225141 | Mining copper transport genes |
Q46915826 | Mitochondrial structure and function in the untreated Jackson toxic milk (tx-j) mouse, a model for Wilson disease |
Q51755942 | Mo-Cu metal cluster formation and binding in an orange protein isolated from Desulfovibrio gigas. |
Q43073138 | Molecular biology and the diagnosis and treatment of liver diseases |
Q41155037 | Molecular biology of iron acquisition in Saccharomyces cerevisiae |
Q28201165 | Molecular characterization of hCTR1, the human copper uptake protein |
Q43695516 | Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect |
Q36332811 | Molecular events initiating exit of a copper-transporting ATPase ATP7B from the trans-Golgi network |
Q39023312 | Molecular features of copper binding proteins involved in copper homeostasis |
Q26772332 | Molecular imaging and therapy targeting copper metabolism in hepatocellular carcinoma |
Q24812338 | Molecular mechanism of copper transport in Wilson disease |
Q51988113 | Molecular mechanisms of copper metabolism and the role of the Menkes disease protein. |
Q24647056 | Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes |
Q41972352 | Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations |
Q35751756 | Molecular regulation of copper excretion in the liver |
Q71011131 | Molybdenum and copper kinetics after tetrathiomolybdate injection in LEC rats: specific role of serum albumin |
Q55436817 | Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease. |
Q48621638 | Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease |
Q43076578 | Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations |
Q83223721 | Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease |
Q40216659 | Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies |
Q38855668 | Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. |
Q37060820 | Mutational analysis of ATP7B in Chinese Wilson disease patients |
Q44301546 | Mutational analysis of the Menkes copper P-type ATPase (ATP7A). |
Q74127971 | Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population |
Q54561833 | N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat. |
Q24514894 | Neurogenetics. Triumphs and challenges |
Q36853725 | Neuroimaging in Wilson disease |
Q46850901 | Neurologic complications of liver transplantation in pediatric patients with the hepatic form of Wilson's disease |
Q36058886 | Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment |
Q46902405 | New canine models of copper toxicosis: diagnosis, treatment, and genetics |
Q73822909 | New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis |
Q42982049 | New insights into the pathogenesis of copper toxicosis in Wilson's disease: evidence for copper incorporation and defective canalicular transport of caeruloplasmin |
Q39917348 | Niemann-Pick C1 protein transports copper to the secretory compartment from late endosomes where ATP7B resides |
Q79259541 | Non-radioactive detection of five common microsatellite markers for ATP7B gene in Wilson disease patients |
Q53407180 | Not too little, not too much, but just right. |
Q64081440 | Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease |
Q34147373 | Novel transporter required for biogenesis of cbb3-type cytochrome c oxidase in Rhodobacter capsulatus |
Q37898405 | Nutritional influences in selected gastrointestinal diseases |
Q36592367 | Opportunities in multidimensional trace metal imaging: taking copper-associated disease research to the next level |
Q51194001 | Outcome and development of symptoms after orthotopic liver transplantation for Wilson disease. |
Q51540681 | Outputs of hepatic copper and cadmium stimulated by tetrathiomolybdate (TTM) injection in Long-Evans Cinnamon (LEC) rats pretreated with cadmium, and in Fischer rats pretreated with copper and cadmium. |
Q33836199 | Oxidative phosphorylation disease diagnosis |
Q39543429 | PCR-generated padlock probes detect single nucleotide variation in genomic DNA. |
Q79085549 | Paediatric and adult movement disorders |
Q38180820 | Pathogenesis and management of Wilson disease |
Q38189393 | Pathogenic adaptations to host-derived antibacterial copper |
Q38187164 | Pathological mitochondrial copper overload in livers of Wilson's disease patients and related animal models. |
Q35956327 | Pathophysiology and clinical features of Wilson disease |
Q45271036 | Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function |
Q40966808 | Pediatric gastroenterology. Update on metabolic liver disease |
Q79854186 | Persistence of elevated aminotransferases in Wilson's disease despite adequate therapy |
Q35587484 | Pharmacological activity of metal binding agents that alter copper bioavailability |
Q33621623 | Phenotypes and Chronic Organ Damage May Be Different among Siblings with Wilson's Disease |
Q33935371 | Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients. |
Q71937577 | Phosphoenzyme formation by purified, reconstituted copper ATPase of Enterococcus hirae |
Q47848231 | Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation |
Q50050989 | Platination of the copper transporter ATP7A involved in anticancer drug resistance |
Q36995742 | Polymorphic transporters and platinum pharmacodynamics |
Q80485347 | Polymorphisms in canine ATP7B: candidate modifier of copper toxicosis in the Bedlington terrier |
Q31032905 | Poor cognitive development and abdominal pain: Wilson's disease |
Q33610789 | Positron emission tomography for measurement of copper fluxes in live organisms |
Q35169041 | Positron emission tomography of copper metabolism in the Atp7b-/- knock-out mouse model of Wilson's disease |
Q53150940 | Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment. |
Q40923065 | Practical recommendations and new therapies for Wilson's disease |
Q92620555 | Preclinical models of Wilson's disease, why dogs are catchy alternatives |
Q71620999 | Prenatal identification of a heterozygous status in two fetuses at risk for glucose-galactose malabsorption |
Q72681489 | Presymptomatic testing in families with Wilson's disease |
Q35714770 | Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease |
Q61970604 | Prevention of mutant SOD1 motoneuron degeneration by copper chelatorsin vitro |
Q49417992 | Production of Wilson Disease Model Rabbits with Homology-Directed Precision Point Mutations in the ATP7B Gene Using the CRISPR/Cas9 System |
Q48587519 | Profound midbrain atrophy in patients with Wilson's disease and neurological symptoms? |
Q36919472 | Progressive familial intrahepatic cholestasis type 3: overlapping presentation with Wilson disease |
Q33903411 | Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease |
Q51890049 | Psychopathology and personality traits in patients with treated Wilson disease grouped according to gene mutations. |
Q36291557 | Quality of Life and Psychiatric Symptoms in Wilson's Disease: the Relevance of Bipolar Disorders |
Q48666975 | Quality of life in patients with treated and clinically stable Wilson's disease. |
Q39115525 | Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease. |
Q40297747 | Quantitative genetic analysis of brain copper and zinc in BXD recombinant inbred mice |
Q51871558 | Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases. |
Q48028090 | REM sleep behavior disorder, neurodegeneration and Wilson's disease |
Q34764402 | Raft-mediated trafficking of apical resident proteins occurs in both direct and transcytotic pathways in polarized hepatic cells: role of distinct lipid microdomains |
Q44940759 | Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology |
Q43834889 | Rapid detection of the Wilson's disease H1069Q mutation by melting curve analysis with the LightCycler |
Q45059832 | Rare presentation of Wilson's disease: a case report |
Q34094269 | Redox cycling in iron uptake, efflux, and trafficking |
Q90419341 | Reduced FXR Target Gene Expression in Copper-Laden Livers of COMMD1-Deficient Dogs |
Q34540834 | Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing |
Q42933535 | Regression of Hypervascular Nodules in a Patient with Wilson's Disease Awaiting Liver Transplantation |
Q48108738 | Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease. |
Q27937681 | Restriction of copper export in Saccharomyces cerevisiae to a late Golgi or post-Golgi compartment in the secretory pathway |
Q71822402 | Retrorsine in breast milk influences copper handling in suckling rat pups |
Q41667296 | Review: molecular approaches to inherited liver disease. Focus on Wilson disease |
Q77803126 | Rheumatologic manifestations of gastrointestinal diseases |
Q40883470 | Role of ATP7B in biliary copper excretion in a human hepatoma cell line and normal rat hepatocytes |
Q37112824 | Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis |
Q47157342 | Scientific Opinion on Dietary Reference Values for copper |
Q42676511 | Sequence of a Menkes-type Cu-transporting ATPase from rat C6 glioma cells: comparison of the rat protein with other mammalian Cu-transporting ATPases |
Q80752711 | Sequence variation database for the Wilson disease copper transporter, ATP7B |
Q46802639 | Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system |
Q24810855 | Sex and ceruloplasmin modulate the response to copper exposure in healthy individuals |
Q35228998 | Simultaneous monitoring of cerebral metal accumulation in an experimental model of Wilson's disease by laser ablation inductively coupled plasma mass spectrometry |
Q27015026 | Sleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialist |
Q48353921 | Sleep disorders in Wilson's disease |
Q27748799 | Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase |
Q27628454 | Solution structure of the yeast copper transporter domain Ccc2a in the apo and Cu(I)-loaded states |
Q73350371 | Soy Protein Isolate Enhances Hepatic Copper Accumulation and Cell Damage in LEC Rats |
Q36723750 | Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis |
Q35041284 | State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis |
Q38201793 | Structural and metabolic changes in Atp7b-/- mouse liver and potential for new interventions in Wilson's disease |
Q34595930 | Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperone HAH1 in copper uptake |
Q28577544 | Supplying copper to the cuproenzyme peptidylglycine alpha-amidating monooxygenase |
Q92532095 | Switching Pharmacological Treatment in Wilson Disease: Case Report and Recommendations |
Q35020396 | Systems biology approach to Wilson's disease |
Q47856724 | Targeting of tetrathiomolybdate on the copper accumulating in the liver of LEC rats |
Q27935318 | The ATX1 gene of Saccharomyces cerevisiae encodes a small metal homeostasis factor that protects cells against reactive oxygen toxicity |
Q28575487 | The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene |
Q27935957 | The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake |
Q55245573 | The WD gene for Wilson's disease links to the hepatitis of LEC rats. |
Q48075338 | The Wilson disease gene: spectrum of mutations and their consequences |
Q24293217 | The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein |
Q34158270 | The Wilson's disease gene and phenotypic diversity |
Q79991322 | The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease |
Q47287430 | The copper rush of the nineties |
Q28366364 | The copper transporter CTR1 provides an essential function in mammalian embryonic development |
Q40124538 | The different intermolecular interactions of the soluble copper-binding domains of the menkes protein, ATP7A. |
Q38491412 | The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease |
Q44120645 | The effect of Au injection on the ceruloplasmin, metallothionein and 8-hydroxydeoxyguanosine of rat serum, kidney and liver |
Q73717772 | The effect of silver administration on the biosynthesis and the molecular properties of rat ceruloplasmin |
Q35180599 | The effect of zinc and D-penicillamine in a stable human hepatoma ATP7B knockout cell line |
Q42380502 | The genetics of Wilson disease |
Q91738340 | The global prevalence of Wilson disease from next-generation sequencing data |
Q42083683 | The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population |
Q37208556 | The iron-sulfur clusters of dehydratases are primary intracellular targets of copper toxicity |
Q33957065 | The neurodegenerative mitochondriopathies |
Q53361326 | The role of copper ions in pathophysiology and fluorescent sensors for the detection thereof. |
Q50126714 | The steady state pharmacokinetics of trientine in Wilson disease patients |
Q28211287 | The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis |
Q37557690 | Therapeutic interventions ameliorating prion disease |
Q37902643 | Therapeutic potential of copper chelation with triethylenetetramine in managing diabetes mellitus and Alzheimer's disease |
Q61798098 | Therapeutic potential of hepatocyte-like-cells converted from stem cells from human exfoliated deciduous teeth in fulminant Wilson's disease |
Q55333205 | Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease. |
Q90311102 | Towards Bioengineered Liver Stem Cell Transplantation Studies in a Preclinical Dog Model for Inherited Copper Toxicosis |
Q35598944 | Trace elements in human physiology and pathology. Copper |
Q73635046 | Transcriptional slippage of p53 gene enhanced by cellular damage in rat liver: monitoring the slippage by a yeast functional assay |
Q38189115 | Treatment of Wilson's disease motor complications with deep brain stimulation |
Q41925058 | Treatment of Wilson's disease with zinc. XVII: treatment during pregnancy |
Q34477827 | Treatment of Wilson's disease with zinc: XV long-term follow-up studies |
Q93348677 | Trientine selectively delivers copper to the heart and suppresses pressure overload-induced cardiac hypertrophy in rats |
Q33524914 | Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. |
Q37206068 | Turning tumor-promoting copper into an anti-cancer weapon via high-throughput chemistry |
Q28609373 | Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments |
Q52511553 | Two trans-acting metalloregulatory proteins controlling expression of the copper-ATPases of Enterococcus hirae. |
Q58609885 | Update on the Diagnosis and Management of Wilson Disease |
Q37594596 | Update on the clinical management of Wilson's disease |
Q21134543 | Urinary copper elevation in a mouse model of Wilson's disease is a regulated process to specifically decrease the hepatic copper load |
Q89624062 | Using CRISPR/Cas9 to model human liver disease |
Q38012376 | Using metalloproteomics to investigate the cellular physiology of copper in hepatocytes |
Q30593594 | Utilizing NMR and EPR spectroscopy to probe the role of copper in prion diseases. |
Q72316252 | Where does the gene for hemochromatosis lie in relation to HLA-A? |
Q55670524 | Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal |
Q51746803 | Widespread Distribution and Functional Specificity of the Copper Importer CcoA: Distinct Cu Uptake Routes for Bacterial Cytochrome c Oxidases. |
Q31027736 | Wilson disease |
Q33250166 | Wilson disease |
Q77798391 | Wilson disease |
Q78747082 | Wilson disease |
Q80218171 | Wilson disease |
Q41758992 | Wilson disease in 1998: genetic, diagnostic and therapeutic aspects |
Q35644241 | Wilson disease in Iceland: a clinical and genetic study. |
Q46540633 | Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations |
Q89716981 | Wilson disease: At the crossroads between genetics and epigenetics-A review of the evidence |
Q33756266 | Wilson disease: histopathological correlations with treatment on follow-up liver biopsies |
Q35615849 | Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients |
Q73236937 | Wilson's Disease |
Q55880550 | Wilson's disease |
Q78486474 | Wilson's disease |
Q81048491 | Wilson's disease |
Q82552015 | Wilson's disease |
Q35106874 | Wilson's disease and other neurological copper disorders |
Q42992658 | Wilson's disease coexisting with viral hepatitis type C: a case report with histological and ultrastructural studies of the liver |
Q44037648 | Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene. |
Q34768720 | Wilson's disease in southern Brazil: a 40-year follow-up study |
Q41908443 | Wilson's disease patient with iron metabolism discharge barriers: A case report |
Q48170303 | Wilson's disease with cognitive impairment and without extrapyramidal signs: improvement of neuropsychological performance and reduction of MRI abnormalities with trientine treatment. |
Q44027500 | Wilson's disease. Clinical presentation, treatment and evolution in 21 cases |
Q48304215 | Wilson's disease. Update of a systemic disorder with protean manifestations |
Q35381754 | Wilson's disease: a comprehensive review of the molecular mechanisms |
Q44276564 | Wilson's disease: physiopathological, clinical and therapeutic considerations |
Q41753999 | Wilson's disease: the scourge of copper |
Q48296049 | Work ability assessment in a patient with Wilson's disease |
Q28190044 | X-ray absorption spectroscopy of the copper chaperone HAH1 reveals a linear two-coordinate Cu(I) center capable of adduct formation with exogenous thiols and phosphines |
Q33714593 | Xenobiotic, bile acid, and cholesterol transporters: function and regulation. |
Q43874030 | Zinc binding to the NH2-terminal domain of the Wilson disease copper-transporting ATPase: implications for in vivo metal ion-mediated regulation of ATPase activity. |
Q30333096 | Zn(II) metabolism in prokaryotes. |
Q75198632 | [44-year-old patient with fulminant liver failure] |
Q24314292 | hCTR1: a human gene for copper uptake identified by complementation in yeast |
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