Missing heritability of Wilson disease: a search for the uncharacterized mutations

No abstract is available for this paper.

• Publication year

  2022

• Venue

  Mammalian Genome

• Publication date

  2022-12-03

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00335-022-09971-yPMID 36462057
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.

  2022cited by this paper
• Direct Measurement of ATP7B Peptides is Highly Effective in the Diagnosis of Wilson Disease.

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  2020cited by this paper
• Cu(II) disrupts autophagy-mediated lysosomal degradation of oligomeric Aβ in microglia via mTOR-TFEB pathway.

  2020cited by this paper
• Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

  2020cited by this paper
• Pitfalls in diagnosing Wilson's Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene.

  2020cited by this paper
• A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

  2020influential reference
• PBT2 acts through a different mechanism of action than other 8-hydroxyquinolines: an X-ray fluorescence imaging study.

  2020cited by this paper
• Retromer retrieves the Wilson disease protein ATP7B from endolysosomes in a copper-dependent manner

  2020cited by this paper
• Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties

  2020cited by this paper
• A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next-generation sequencing and Sanger sequencing

  2019cited by this paper
• Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers

  2019cited by this paper
• Genetics and epigenetic factors of Wilson disease.

  2019cited by this paper
• COMMD1 and PtdIns(4,5)P2 interaction maintain ATP7B copper transporter trafficking fidelity in HepG2 cells

  2019cited by this paper
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  2019cited by this paper
• Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis

  2019cited by this paper
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  2019cited by this paper
• New tools for Wilson's disease diagnosis: exchangeable copper fraction.

  2019cited by this paper
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  2019cited by this paper
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  2019cited by this paper
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  2018cited by this paper
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  2018cited by this paper
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  2018cited by this paper
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  2018cited by this paper
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  2018cited by this paper
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  2017cited by this paper
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  2017influential reference
• The metal chaperone Atox1 regulates the activity of the human copper transporter ATP7B by modulating domain dynamics

  2017cited by this paper
• A report of whole-genome sequencing in neurologic Wilson's disease

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  2016cited by this paper
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  2015cited by this paper
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  2015cited by this paper
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  2015cited by this paper
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  2015cited by this paper
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  2015cited by this paper
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  2015cited by this paper
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  2015cited by this paper
• Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes

  2015cited by this paper
• Polymorphisms of metal transporter genes DMT1 and ATP7A in Wilson's disease.

  2014cited by this paper
• Lysosome-related Organelles as Mediators of Metal Homeostasis*

  2014cited by this paper
• Targeted Allelic Expression Profiling in Human Islets Identifies cis-Regulatory Effects for Multiple Variants Identified by Type 2 Diabetes Genome-Wide Association Studies

  2014cited by this paper
• Mutational characterization of ATP7B gene in 103 Wilson’s disease patients from Southern China: identification of three novel mutations

  2014cited by this paper
• AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism

  2014cited by this paper
• Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

  2014cited by this paper
• Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

  2014influential reference
• Influence of BDNF polymorphisms on Wilson’s disease susceptibility and clinical course

  2013cited by this paper
• Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.

  2013cited by this paper
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  2013cited by this paper
• A genetic study of Wilson's disease in the United Kingdom.

  2013cited by this paper
• An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome

  2013cited by this paper
• Intestinal expression of metal transporters in Wilson’s disease

  2013cited by this paper
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  2012cited by this paper
• Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

  2012cited by this paper
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  2012cited by this paper
• Evolution of Copper Transporting ATPases in Eukaryotic Organisms

  2012cited by this paper
• Six novel ATP7B mutations in Thai patients with Wilson disease.

  2011cited by this paper
• Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort

  2011cited by this paper
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  2011cited by this paper
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  2011cited by this paper
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  2011cited by this paper
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  2010cited by this paper
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  2009cited by this paper
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  2006cited by this paper
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  2006influential reference
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  2005cited by this paper
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  2005cited by this paper
• [Effect of the mutation of promoter region in Wilson disease ATP7B gene on the expression of reporter gene].

  2005cited by this paper
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  2005cited by this paper
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  2004influential reference
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• Molecular characterization of Wilson disease in the Sardinian population—Evidence of a founder effect

  1999cited by this paper
• Copper levels are increased in the cerebral cortex and liver of APP and APLP2 knockout mice.

  1999cited by this paper

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