Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome [PDF]
, 2000 Lisbeth Birk Møller +8 more
openalex +1 more source
Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin
, 2017 Ana Krivokuća +11 more
openalex +2 more sources
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady +10 more
wiley +1 more source
Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer [PDF]
, 2005 Hetian Lei
openalex +1 more source
Insights into organelle forming RNAs: Diversity, functions and future perspectives
Animal Models and Experimental Medicine, EarlyView.RNA molecules play crucial roles in the formation and maintenance of cellular structures and organelles. These ‘organelle formation RNAs’ include ribosomal RNAs, paraspeckle‐forming RNAs, nuclear speckle‐forming RNAs, nucleolus‐forming RNAs, and cytoskeleton‐forming RNA.
Meng Gong, Xiangting Wang, Xiaolin Liang
wiley +1 more source
Annals of Neurology, EarlyView.Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji +10 more
wiley +1 more source
A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report. [PDF]
Balkan J Med Genet, 2020 Erden E, Ceylan AC, Emre S.
europepmc +1 more source
Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang +10 more
wiley +1 more source
A novel splice-site mutation of the HNF1B gene in a family with maturity onset diabetes of the young type 5 (MODY5). [PDF]
Endocrinol Diabetes Metab Case Rep, 2020 Fujita Y +9 more
europepmc +1 more source