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Retinitis Pigmentosa is a group of inherited eye disorders characterized by progressive degeneration of photoreceptor cells in the retina, leading to vision loss and eventual blindness. One of the known genetic mutations associated with RP is the c.6926A>C mutation in the RPE (retinal pigment epithe...
ORGANISM(S): Homo sapiens 
Diamond-Blackfan anemia (DBA) is a congenital disorder that results predominantly from mutations in various ribosomal protein genes. In order to determine how these mutations affect the translation of specific mRNAs, we performed microarray analysis of polysomal transcripts isolated from lymphoblast...
ORGANISM(S): Homo sapiens 

Genes are pleiotropic and getting a better knowledge of their function requires a comprehensive characterization of their mutants. Here, we generated multi-level data combining phenomic, proteomic and metabolomic acquisitions from plasma and liver tissues of two C57BL/6 N mouse models lacking the...

2021-09-01 | MTBLS1903 | MetaboLights
comparative expression analysis of polysomal mRNA from Diamond-Blackfan anemia patients and healthy individuals
ORGANISM(S): Homo sapiens 
Microbial alteration and remineralization of organic matter in the ocean play essential roles in the carbon cycle. The impact of individual compounds as either growth substrates or infochemicals is still poorly constrained in models, particularly for organisms with relatively versatile genomes. Here...
2015-01-29 | MTBLS157 | MetaboLights

Fecal microbiota transplantation (FMT) represents a potential strategy to overcome resistance to immune checkpoint inhibitors in patients with refractory melanoma; however, the role of FMT in first-line treatment settings has not been evaluated. We conducted a multicenter phase I trial combining ...

2025-02-27 | MTBLS711 | MetaboLights
Elevated brain levels of the essential metals manganese (Mn), copper, or iron induce motor disease. However, mechanisms of metal-induced motor disease are unclear and treatments are lacking. Elucidating the mechanisms of Mn-induced motor disease is particularly important because occupational and env...
2025-03-31 | MTBLS975 | MetaboLights

Garrod’s concept of “chemical individuality” has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolo...

2022-09-09 | MTBLS833 | MetaboLights
Profiling of mRNA abundances with high-throughput platforms such as microarrays and RNA-Seq has become an important tool in both basic and biomedical research. However these platforms remain prone to systematic errors, and have challenges in clinical and industrial application. As a result it is sta...
ORGANISM(S): Rattus norvegicus 
Food analysis is continuously requesting the development of more robust, efficient and cost-effective food authentication analytical methodologies to guarantee the safety, quality and traceability of food commodities with respect to legislation and consumer demands. Hence, a novel RP-UHPLC-ESI-QTOF-...
2017-05-04 | MTBLS433 | MetaboLights
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