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MetabolomicsA Cross-Platform Metabolomics Comparison Identifies Serum Metabolite Signatures of Liver Fibrosis Progression in Chronic Hepatitis C Patients
Metabolomics offers new insights into disease mechanisms that is enhanced when adopting orthogonal instrumental platforms to expand metabolome coverage, while also reducing false discoveries by independent replication. Herein, we report the first inter-method comparison when using multisegment injec...
2023-08-22 | MTBLS3111 | MetaboLights
TranscriptomicsDifferentially regulated genes in control and c-myc N-myc deficient LT-HSCs
Analysis of HSCs from control and c-myc N-myc deficient long-term hematopoietic stem cells. HSCs lacking both c-myc and N-myc display increased apoptosis rates. Data provide insight into the molecular changes occuring upon complete loss of Myc activity, clarifying the resulting apoptotic mechanism a...
ORGANISM(S): Mus musculus 
2009-02-20 | E-GEOD-12467 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of mouse model of Wilson disease reveals specific changes of liver transcriptome in the early stages of copper accumulation
Wilson disease (WD) is a severe metabolic disorder caused by genetic inactivation of copper-transporting ATPase ATP7B. In WD, copper accumulates in several tissues, particularly in the liver, inducing marked time-dependent pathological changes. To identify initial events in the copper-dependent de...
ORGANISM(S): Mus musculus 
2008-06-13 | E-GEOD-5348 | biostudies-arrayexpress
MetabolomicsTargeted Metabolomic Analysis in Patients with Wilson Disease Reveals Dysregulated Choline, Methionine and Aromatic Amino Acid Metabolism: Implications for Hepatic and Neurological Phenotypes
Not available
ORGANISM(S): Homo sapiens 
ST001259 | MetabolomicsWorkbench
ProteomicsMetallothionein immunohistochemistry has high sensitivity and specificity for detection of Wilson disease
Diagnosis of Wilson disease (WD) can be difficult because of its protean clinical presentation, but early diagnosis is important because effective treatment is available and can prevent disease progression. Using quantitative proteomics, we characterized proteins that are differentially expressed in...
ORGANISM(S): Homo sapiens (Human) 
2023-04-18 | PXD029069 | Pride
Quantitative proteomics Immunohistochemistry Liver Wilson disease Mt1g Sensitivity Metallothionein-1g Specificity 
ProteomicsProteomic analysis of the secretome of chondrocyte-like cells in Saul-Wilson syndrome
Saul-Wilson syndrome (SWS) is a rare skeletal dysplasia often presents with features such as a distinct facial phenotype, cataracts, short stature, clubfoot deformities, and microcephaly. We have previously identified that the causative mutation in SWS is a heterozygous, dominant variant (p.G516R) i...
ORGANISM(S): Homo sapiens (Human) 
2023-03-11 | PXD036151 | Pride
Human Saul-wilson syndrome Secretome Chondrocyte-like cells 
TranscriptomicsTRANSCRIPTIONAL REMODELLING IN RESPONSE TO CHANGING COPPER LEVELS IN WILSON DISEASE MODEL OF SACCHAROMYCES CEREVISIAE
A 3 x 2 factorial design was used to elucidate the genome-wide transcriptional response to the deletion of yeast ortholog of Wilson and Menkes disease causing gene; CCC2, at changing copper levels. Homozygous deletion mutant of CCC2, which encodes Cu+2 transporting P-type ATPase required to export c...
ORGANISM(S): Saccharomyces cerevisiae 
2013-09-02 | E-MEXP-3927 | biostudies-arrayexpress
UnknownWilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster.
Not available
S-EPMC7673086 | biostudies-literature
Unknown<i>ATP7B</i> variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
Not available
S-EPMC7142117 | biostudies-literature
MetabolomicsGlobal untargeted serum metabolomic analyses nominate metabolic pathways responsive to loss of expression of the orphan metallo beta-lactamase, MBLAC1
The C. elegans gene swip-10 encodes an orphan metallo beta-lactamase that genetic studies indicate is vital for limiting neuronal excitability and viability. Sequence analysis indicates that the mammalian gene Mblac1 is the likely ortholog of swip-10, with greatest sequence identity localized...
2019-03-12 | MTBLS650 | MetaboLights
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