Associated Papers
Suppressor tRNAs as personalized therapy for nonsense mutation-associated pathologies.
Ignatova Z et al.
Pharmacology & Therapeutics, 2025
An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations.
Specht C et al.
Nucleic Acids Research, 2025
Efficient suppression of premature termination codons with alanine by engineered chimeric pyrrolysine tRNAs.
Awawdeh A et al.
Nucleic Acids Research, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
36385461 (PubMed )
Supplement: IJC-152-1159-s010.xlsx › Asian_only
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf
Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.
Abreu RBV et al.
Frontiers in Pharmacology, 2022
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
30702160 (PubMed )
Supplement: IJC-145-962-s007.xlsx › Indian
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.
Díez O et al.
Human Mutation, 2003
Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations.
Osorio A et al.
European Journal of Human Genetics : Ejhg, 2003
Clustering of cancer-related mutations in a subset of BRCA1 alleles: a study in the Spanish population.
de la Hoya M et al.
International Journal of Cancer, 2002
Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.
Llort G et al.
Human Mutation, 2002
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