5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24029
Abstract: In the human genome, most 5′ splice sites (~99%) employ the canonical GT dinucleotide whereas a small minority (~1%) use the noncanonical GC dinucleotide. The functionality and pathogenicity of 5′ splice site GT>GC (+2T>C) variants… read more here.
Keywords: splice; site variants; terms functionality; splice site ... See more keywords
No Change in Prevalence of Impulse Control Disorder Behaviors in Parkinson's Disease During the Last Decade
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders"
DOI: 10.1002/mds.28400
Abstract: gous de novo nonsense variant in CAMK4: NM_001744.4: c.940C>T, p.Gln314* as the only plausible candidate. This variant, absent from population-reference databases (gnomAD, inhouse exomes), was located fewer than 50 nucleotides upstream of the last exon–exon… read more here.
Keywords: impulse control; prevalence impulse; control disorder; change prevalence ... See more keywords
A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1729
Abstract: Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine… read more here.
Keywords: jeghers syndrome; novel pathogenic; splice site; site variation ... See more keywords
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.322
Abstract: The CYP11A1 gene encodes the cytochrome P450 side‐chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss… read more here.
Keywords: cyp11a1 trans; variant cyp11a1; cyp11a1; splice site ... See more keywords
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome†
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.815
Abstract: MEGDHEL is an autosomal recessive syndrome defined as 3‐MEthylGlutaconic aciduria (3‐MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh‐like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which… read more here.
Keywords: site mutation; novel splice; splice site; site ... See more keywords
A single-base change at a splice site in Wx-A1 caused incorrect RNA splicing and gene inactivation in a wheat EMS mutant line
Sign Up to like & getrecommendations! Published in 2019 at "Theoretical and Applied Genetics"
DOI: 10.1007/s00122-019-03340-1
Abstract: Key messageAn EMS-induced single-base mutation at a splice site caused abnormal RNA splicing and resulted in the gene inactivation and the lack of Wx-A1 protein in a wheat EMS mutant line.AbstractAn EMS-mutagenized population was generated… read more here.
Keywords: splice; wheat; rna; splice site ... See more keywords
Splice site identification in human genome using random forest
Sign Up to like & getrecommendations! Published in 2017 at "Health and Technology"
DOI: 10.1007/s12553-016-0157-z
Abstract: Gene identification has been an increasingly important task due to developments of Human Genome Project. Splice site prediction lies at the heart of identifying human genes, thus development of new methods which detect the splice… read more here.
Keywords: splice; svm; encoding methods; human genome ... See more keywords
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
Systematic Analysis of Splice-Site-Creating Mutations in Cancer
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DOI: 10.1016/j.celrep.2018.03.052
Abstract: SUMMARY For the past decade, cancer genomic studies have focused on mutations leading to splice-site disruption, overlooking those having splice-creating potential. Here, we applied a bioinformatic tool, MiSplice, for the large-scale discovery of splice-site-creating mutations… read more here.
Keywords: splice; site creating; creating mutations; splice site ... See more keywords
Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.02.004
Abstract: Jalili syndrome is a rare autosomal recessive genetic disease characterized by the association of amelogenesis imperfecta and cone-rod retinal dystrophy. This syndrome is caused by mutations in the CNNM4 gene. Different types of CNNM4 mutations… read more here.
Keywords: jalili syndrome; splice site; cnnm4 gene; family ... See more keywords
PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability
Sign Up to like & getrecommendations! Published in 2019 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2019.03.010
Abstract: PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular… read more here.
Keywords: related disease; site acceptor; acceptor variant; disease ... See more keywords