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GenomicNext Generation Mendelian Genetics: Atypical Werner Syndrome

Werner syndrome (WS) is an adult-onset progeroid syndrome characterized by accelerated aging. The International Registry of Werner Syndrome in the Department of Pathology, University of Washington, collects WS cases from all over the world. Classical WS is caused by WRN mutations. Those who do no...

phs000434 | dbGaP
GenomicsNext Generation Mendelian Genetics: Atypical Werner Syndrome

Werner syndrome (WS) is an adult-onset progeroid syndrome characterized by accelerated aging. The International Registry of Werner Syndrome in the Department of Pathology, University of Washington, collects WS cases from all over the world. Classical WS is caused by WRN mutations. Those who do no...

phs000434.v1.p1 | EGA
MetabolomicsImproving the Screening Analysis of Pesticide Metabolites in Human Biomonitoring by Combining High-Throughput In Vitro Incubation and Automated LC-HRMS Data Processing
There is a current need to monitor human exposure to a large number of pesticides and other chemicals of emerging concern (CECs). This requires screening analysis with high confidence for these compounds and their metabolites in complex matrices, which is hampered by the fact that no reference stand...
2022-01-17 | MTBLS2402 | MetaboLights
UnknownThe spectrum of WRN mutations in Werner syndrome patients.
Not available
S-EPMC1868417 | biostudies-literature
UnknownWRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Not available
S-EPMC4686336 | biostudies-literature
UnknownTargeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
Not available
S-EPMC9613861 | biostudies-literature
UnknownEpigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes.
Not available
S-EPMC6718529 | biostudies-literature
ProteomicsDysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice
In the project “Dysregulated lipid metabolism and hypomyelination in postnatal peroxisome-deficient Pex2 knockout Zellweger mice” label-free mass spectrometry proteomics was used to study the proteome in different regions of the central nervous system of wild-type and peroxisome-deficient Pex2 knock...
ORGANISM(S): Mus musculus (Mouse) 
2026-01-28 | PXD063585 | Pride
Peroxisomes Brain Pex2 knockout mouse Cerebral cortex Cholesterol Cerebellum Cns Myelination Brainstem Zellweger syndrome Spinal cord Lc-ms/ms 
TranscriptomicsTranscriptome of soleus muscle of Tenascin-C deficient 129/SV mice
1 year-old male Tenascin-C deficient 129/SV mice with the targeted insertion of a beta-lactamase cassette in the NcoI site of exon 2 of the TNC gene (Forsberg, E., Hirsch, E., Frohlich, L., Meyer, M., Ekblom, P., Aszodi, A., Werner, S. & Fassler, R. (1996) Proc. Natl. Acad. Sci U. S. A 93, 6594-6599...
ORGANISM(S): Mus musculus 
2010-06-25 | E-GEOD-8550 | biostudies-arrayexpress
TranscriptomicsTranscriptome of reloaded soleus muscle of Tenascin-C deficient 129/SV mice
1 year-old male Tenascin-C deficient 129/SV mice with the targeted insertion of a beta-lactamase cassette in the NcoI site of exon 2 of the TNC gene (Forsberg, E., Hirsch, E., Frohlich, L., Meyer, M., Ekblom, P., Aszodi, A., Werner, S. & Fassler, R. (1996) Proc. Natl. Acad. Sci U. S. A 93, 6594-6599...
ORGANISM(S): Mus musculus 
2010-06-25 | E-GEOD-8551 | biostudies-arrayexpress
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