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ProteomicsInteractome screening of C9orf72 dipeptide repeats reveals sequestration and functional impairment of VCP by polyGA
Repeat expansions in the C9orf72 gene are a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), two devastating neurodegenerative disorders. One of the proposed mechanisms of GGGGCC repeat expansion is their translation to produce unnatural dipeptide rep...
ORGANISM(S): Homo sapiens (Human) 
2022-05-19 | PXD024120 | Pride
Proximity labeeling Proteomics Amyotrophic lateral sclerosis Als Valosin-containing protein Vcp Bioid Neurodegeneration Dipeptide repeats 
UnknownCharacteristics and Outcomes of US Patients Hospitalized With COVID-19.
Not available
S-EPMC8891038 | biostudies-literature
GenomicsMEN1 Mutational Analysis in Hurthle Cell Thyroid Carcinoma - samples
This dataset includes 2 pairs of tumour/normal whole genome sequence data as well as MEN1 gene targeted sequencing of an additional 87 specimens.
EGAD00001001085 | EGA
GenomicsWhole genome study of Hurthle cell thyroid carcinoma
Oncocytic thyroid carcinoma, also known as Hürthle cell thyroid carcinoma, accounts for only a small percentage of all thyroid cancers. However, this malignancy often presents at an advanced stage and poses unique challenges to patients and clinicians. Surgical resection of the tumor accompanied in...
EGAS00001000940 | EGA
UnknownThe antigenic anatomy of SARS-CoV-2 receptor binding domain.
Not available
S-EPMC7891125 | biostudies-literature
Genomics20181113_EGA_MELA_Naevus - samples
Aligned, merged and deduplicated BAM files from HiSeq whole genome sequencing of 28 samples: matched tumour-normal pairs from 14 melanocytic nevi cases
EGAD00001004474 | EGA
Genomics20191008_EGA_MELA_Acral - samples
Illumina platform sequencing of whole genome libraries prepared from paired tumour/normal samples from 87 cases of melanoma Acral subtype. 63 cases also have RNASeq sequencing from the tumour sample.
EGAD00001005500 | EGA
Genomics20190219_EGA_MelanomaOnTreatment - samples
Illumina platform sequencing data for matched tumour-normal DNA samples from 77 melanoma patients participating in a study investigating response to immunotherapy. Selected cases also have RNA sequencing of the tumour.
EGAD00001004869 | EGA
Genomics20191008_EGA_MELA_Uveal - samples
Illumina platform sequencing of whole genome libraries prepared from paired tumour/normal samples from 103 cases of melanoma Uveal subtype
EGAD00001005454 | EGA
Genomics20191204_EGA_MELA_Rizos - samples
79 RNAseq samples from 56 patients with melanoma who have undergone immune checkpoint blockade immunotherapy.
EGAD00001005738 | EGA
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