Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects - Lee, Jong-Min; McLean, Zachariah L.; Correia, Kevin; Shin, Jun Wan; Lee, Sujin; Jang, Jae-Hyun; Lee, Yukyeong; Kim, Kyung-Hee; Choi, Doo Eun; Long, Jeffrey D.; Lucente, Diane; Seong, Ihn Sik; et al. (Nature genetics, 2025)
Keywords: 5' Untranslated regions; 631/208/205/2138; 692/699/375/365; Adenosine Triphosphatases - genetics; Age; Agriculture; Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Blood; Cancer Research; Chromosomes; Deoxyribonucleic acid; DNA; DNA Mismatch Repair - genetics; DNA repair; DNA Repair Enzymes - genetics; DNA-Binding Proteins - genetics; Endodeoxyribonucleases - genetics; Exodeoxyribonucleases - genetics; Female; Gene Function; Gene loci; Genes; Genes, Modifier; Genetic modification; Genome-wide association studies; Genome-Wide Association Study; Genomes; Haplotypes; Human Genetics; Humans; Huntingtin Protein - genetics; Huntington Disease - genetics; Huntington Disease - pathology; Huntington's disease; Huntingtons disease; Influence; Male; Mismatch repair; Mismatch Repair Endonuclease PMS2 - genetics; Molecular modelling; Multifunctional Enzymes; MutS Homolog 3 Protein - genetics; Organ Specificity - genetics; Pathogenesis; Phenotype; Phenotypes; Polyglutamine; Trinucleotide Repeat Expansion - genetics; Trinucleotide repeats