Associated Papers
Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site.
Rein HL et al.
Dna Repair, 2024
Domains and residues of the Saccharomyces cerevisiae hnRNP protein Hrp1 important for transcriptional autoregulation and noncoding RNA termination.
Goguen EC et al.
Genetics, 2023
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.
Schipani A et al.
Genes, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.
Milionis V et al.
Clinical Case Reports, 2021
Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes.
Sawangareetrakul P et al.
Biomedical Reports, 2021
The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review.
Aghamir SMK et al.
Oncotargets and Therapy, 2019
The emerging role and targetability of the TCA cycle in cancer metabolism.
Anderson NM et al.
Protein & Cell, 2018
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Roosing S et al.
Elife, 2015
The F plasmid transfer activator TraJ is a dimeric helix-turn-helix DNA-binding protein.
Rodriguez-Maillard JM et al.
Fems Microbiology Letters, 2010
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A et al.
American Journal of Human Genetics, 2009
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
Furuki S et al.
The Journal of Biological Chemistry, 2006
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Thompson DA et al.
Human Molecular Genetics, 2005
The maize Single myb histone 1 gene, Smh1, belongs to a novel gene family and encodes a protein that binds telomere DNA repeats in vitro.
Marian CO et al.
Plant Physiology, 2003
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Matsumoto N et al.
American Journal of Human Genetics, 2003
Disease-related mutations in cytochrome c oxidase studied in yeast and bacterial models.
Bratton M et al.
European Journal of Biochemistry, 2003
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS et al.
American Journal of Human Genetics, 1999