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ProteomicsProteome characterization of XPC-deficient melanocytes generated by CRISPR-Cas9 technology reveals alteration in the expression of several hundred of proteins
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder owing to the defects in one of the factors implicated in nucleotide excision repair (NER) system. The effect of NER deficiency on melanocyte biology has not received much attention up to now from a mechanistic standpoint, due to the l...
ORGANISM(S): Homo sapiens (Human) 
2024-12-17 | PXD042713 | Pride
Immune system Xeroderma pigmentosum Melanocyte Proteomic 
UnknownATR inhibition potentiates FOLFIRINOX cytotoxic effect in models of pancreatic ductal adenocarcinoma by remodelling the tumour microenvironment.
Not available
S-EPMC11746931 | biostudies-literature
UnknownMutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
Not available
S-EPMC4121477 | biostudies-literature
UnknownThe DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
Not available
S-EPMC6547518 | biostudies-literature
UnknownWhich severe COVID-19 patients could benefit from high dose dexamethasone? A Bayesian post-hoc reanalysis of the COVIDICUS randomized clinical trial.
Not available
S-EPMC10460760 | biostudies-literature
UnknownThe prevention and management of chronic disease in primary care: recommendations from a knowledge translation meeting.
Not available
S-EPMC4608115 | biostudies-literature
UnknownAssessment of white matter hyperintensity severity using multimodal magnetic resonance imaging.
Not available
S-EPMC10636521 | biostudies-literature
Genomicsena-DATASET-BTRC-03-04-2014-18:00:02:250-43 - samples
Whole genome alignments of DIPG patients
EGAD00001000814 | EGA
Genomicsena-DATASET-BTRC-26-04-2017-20:29:35:774-41 - samples
Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment. To understand what drives DIPGs we integrated whole-genome-sequencing with methylation, expression and copy-number profiling.
EGAD00001003305 | EGA
GenomicsWhole genome sequencing and whole exome sequencing of DIPG tumors and matched normal tissue
Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment. To understand what drives DIPGs we integrated whole-genome-sequencing with methylation, expression and copy-number profiling.
EGAS00001000575 | EGA
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