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ProteomicsUnraveling the impact of VHL Exon 2 mutations identified in Erythrocytosis or von Hippel-Lindau disease, identified hnRNP F and hnRNP AB as new RNA-Binding Proteins involved in VHL splicing.
This study explores the impact of mutations in the exon 2 of the von Hippel-Lindau (VHL) gene, associated with erythrocytosis or von Hippel-Lindau disease. We analyzed 15 genetic variants, including missense and synonymous mutations, to assess their effects on VHL protein stability and splicing. Usi...
ORGANISM(S): Homo sapiens (Human) 
2025-09-25 | PXD056515 | Pride
Dia Rna-binding proteins Von hippel-lindau disease Erythrocytosis 
TranscriptomicsIGR_MITF_STUDY_BBRB
A recent study of the characteristics of coexisting melanoma and renal cell carcinoma RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia associated transcription factor (MITF) was proposed to act as a melanoma oncogene;...
ORGANISM(S): Homo sapiens 
2011-09-03 | E-TABM-1198 | biostudies-arrayexpress
GenomicsMELARISK_SNP_MITF_geno
Genotypes at MITF E318K variant
EGAD00000000122 | EGA
GenomicsMELARISK_MITF_geno
Genotypes at MITF E318K variant
EGAD00000000121 | EGA
GenomicsA MITF germline mutation predisposes to melanoma and renal cell carcinoma
Study EGAS00000000048
EGAS00000000048 | EGA
GenomicsMELARISK Data Access Committee
Access to data generated by the MELARISK is available by emailing application to the data access committee and will be granted to qualified investigators for appropriate use.
EGAC00000000016 | EGA
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