Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.
Sign Up to like & getrecommendations! Published in 2019 at "Bone"
DOI: 10.1016/j.bone.2019.05.017
Abstract: CONTEXT X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the PHEX gene and is the most common form of hereditary rickets. The splice-site mutations account for 17% of all reported PHEX mutations. The… read more here.
Keywords: splice site; site; site mutations; canonical splice ... See more keywords
Consideration of non-canonical splice sites improves gene prediction on the Arabidopsis thaliana Niederzenz-1 genome sequence
Sign Up to like & getrecommendations! Published in 2017 at "BMC Research Notes"
DOI: 10.1186/s13104-017-2985-y
Abstract: ObjectiveThe Arabidopsis thaliana Niederzenz-1 genome sequence was recently published with an ab initio gene prediction. In depth analysis of the predicted gene set revealed some errors involving genes with non-canonical splice sites in their introns.… read more here.
Keywords: non canonical; canonical splice; splice sites; gene ... See more keywords
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical and experimental nephrology"
DOI: 10.2139/ssrn.4282750
Abstract: BACKGROUND Fabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants… read more here.
Keywords: canonical splice; variants gla; splice; non canonical ... See more keywords
Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23137446
Abstract: Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. However, if RNA studies are not performed, most of the variants beyond the canonical GT-AG splice… read more here.
Keywords: canonical splice; beyond canonical; hereditary cancer; variants beyond ... See more keywords
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232113343
Abstract: Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been reported in public… read more here.
Keywords: canonical splice; splice; non canonical; splice site ... See more keywords