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UnknownStructured Bayesian Regression Tree Models for Estimating Distributed Lag Effects: The R Package dlmtree.
Not available
S-EPMC12355931 | biostudies-literature
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 
UnknownCharacteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson's Disease Rating Scale.
Not available
S-EPMC5887239 | biostudies-literature
ProteomicsInteractomes of WT and H1069Q variants of ATP7B
The H1069Q substitution in the liver-specific copper transporter ATP7B represents the major cause of Wilson disease. The mutated ATP7B undergoes rapid degradation in the endoplasmic reticulum (ER) and fails to reach copper excretion compartments thus causing severe copper toxicosis in patients. Modu...
ORGANISM(S): Homo sapiens (Human) 
2020-12-11 | PXD016816 | Pride
Atp7b Wilson disease Copper 
UnknownGovernment R&D subsidies and international competitiveness of labor-managed firms.
Not available
S-EPMC7868814 | biostudies-literature
Unknownskelesim: an extensible, general framework for population genetic simulation in R.
Not available
S-EPMC5161633 | biostudies-literature
UnknownStructural basis of ribosomal 30S subunit degradation by RNase R.
Not available
S-EPMC10901742 | biostudies-literature
MetabolomicsMetabolic analysis of the response of Pseudomonas putida DOT-T1E strains to toluene using Fourier transform infrared spectroscopy and gas chromatography mass spectrometry
To elucidate any observable metabolic alterations during interactions of several strains of Pseudomonas putida (DOT-T1E, and its mutants DOT-T1E-PS28 and DOT-T1E-18) with the aromatic hydrocarbon toluene, metabolomic approaches were employed. Initially, Fourier-transform infrared (FT-IR) spectroscop...
2016-08-23 | MTBLS319 | MetaboLights
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
TranscriptomicsCUT&Tag for S9.6 in DIS3-depleted cells
CUT&Tag was performed to identify the effect of DIS3 depletion on DNA:RNA hybrids genome-wide. DIS3-AID HCT116 cells were treated with either Auxin (for rapid depletion of DIS3) or DMSO (control). CUT&Tag was performed targeting DNA:RNA hybrids using the CUT&Tag-IT® R-loop Assay Kit (Active Motive) ...
ORGANISM(S): Homo sapiens 
2026-08-03 | E-MTAB-17179 | biostudies-arrayexpress
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