Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.685
Abstract: Genetic variants in TMPRSS3 have been causally linked to autosomal recessive nonsyndromic hearing loss (HL) at the DFNB8 and DFNB10 loci. These variants include both single nucleotide and copy number variations (CNVs). In this study,… read more here.
Keywords: hearing loss; complex genomic; identification complex; genomic rearrangement ... See more keywords
Engineering Large Genomic Rearrangement in Mouse Embryonic Stem Cell for Cancer Gene Discovery.
Sign Up to like & getrecommendations! Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8967-6_16
Abstract: Over the last several decades, multiple recurrent chromosomal amplifications and deletions have been detected in a large number of cancers. These regions of amplification and deletion can encompass a few to several hundred genes. Determining… read more here.
Keywords: engineering; large genomic; engineering large; genomic rearrangement ... See more keywords
Formation of ultralong DH regions through genomic rearrangement
Sign Up to like & getrecommendations! Published in 2020 at "BMC Immunology"
DOI: 10.1186/s12865-020-00359-8
Abstract: Background Cow antibodies are very unusual in having exceptionally long CDR H3 regions. The genetic basis for this length largely derives from long heavy chain diversity (DH) regions, with a single “ultralong” DH, IGHD8–2, encoding… read more here.
Keywords: regions genomic; genomic rearrangement; ultralong regions; formation ... See more keywords