Article ; Online: A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
The British journal of dermatology
2022 Volume 187, Issue 6, Page(s) 1045–1048
Abstract: This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a ... ...
| Abstract | This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype. |
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| MeSH term(s) | Humans ; Cardiomyopathy, Dilated/genetics ; Codon, Initiator ; Epidermolysis Bullosa Simplex/genetics ; Intermediate Filaments ; Mutation/genetics ; Phenotype ; Repressor Proteins/genetics | |||||
| Chemical Substances | Codon, Initiator ; KLHL24 protein, human ; Repressor Proteins | |||||
| Language | English | |||||
| Publishing date | 2022-09-09 | |||||
| Publishing country | England | |||||
| Document type | Letter | |||||
| ZDB-ID | 80076-4 | |||||
| ISSN | 1365-2133 ; 0007-0963 | |||||
| ISSN (online) | 1365-2133 | |||||
| ISSN | 0007-0963 | |||||
| DOI | 10.1111/bjd.21832 | |||||
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| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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