Associated Papers
KLHL24 associated cardiomyopathy: Gene function to clinical management.
Johnson N et al.
Gene, 2025
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R et al.
American Journal of Human Genetics, 2024
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
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
The cap-proximal RNA secondary structure inhibits preinitiation complex formation on HAC1 mRNA.
Uppala JK et al.
The Journal of Biological Chemistry, 2022
Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.
Welters A et al.
Orphanet Journal of Rare Diseases, 2020
Germline SDHA mutations in children and adults with cancer.
Dubard Gault M et al.
Cold Spring Harbor Molecular Case Studies, 2018
Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.
de Oliveira-Junior EB et al.
Pediatric Blood & Cancer, 2015
Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.
Cardaci S et al.
Nature Cell Biology, 2015
An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).
Nannini M et al.
Journal of Medical Genetics, 2013
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.
Chia J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
One single in-frame AUG codon is responsible for a diversity of subcellular localizations of glutaredoxin 2 in Saccharomyces cerevisiae.
Porras P et al.
The Journal of Biological Chemistry, 2006
Translation initiation with GUC codon in the archaeon Halobacterium salinarum: implications for translation of leaderless mRNA and strict correlation between translation initiation and presence of mRNA.
Srinivasan G et al.
Molecular Microbiology, 2006
The Escherichia coli dnaA gene: four functional domains.
Sutton MD et al.
Journal of Molecular Biology, 1997
Novel alleles of the Escherichia coli dnaA gene.
Sutton MD et al.
Journal of Molecular Biology, 1997