Results 41 to 50 of about 537,790 (185)
glarue/intronIC: intronIC v1.1.1
, 2020 intronIC v1.1.1 Replace parent-child hierarchical clustering of annotation features with simpler, directed graph-based approach Fix occasional issues where parent genes of CDS/exon features weren't correctly ...
Graham Larue
core +1 more source
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome [PDF]
, 2019 Advances in molecular genetics have revealed that approximately 30% of cases with steroid-resistant nephrotic syndrome (SRNS) are caused by single-gene mutations. More than 50 genes are responsible for SRNS. One such gene is the nucleoporin, 93-KD (NUP93)
Shogo Minamikawa +35 more
core +1 more source
An HFE Intronic Variant Promotes Misdiagnosis of Hereditary Hemochromatosis [PDF]
The American Journal of Human Genetics, 1999 Accession numbers and URLs for data in this article are as follows:GenBank, http://www.ncbi.nlm.nih.gov/Web/Genbank (for Z92910)Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim (for HH [MIM 235200])
Somerville, Martin J. +4 more
openaire +2 more sources
An Alternative Splice Variant of HIPK2 with Intron Retention Contributes to Cytokinesis [PDF]
Cells, 2020 HIPK2 is a DYRK-like kinase involved in cellular stress response pathways, development, and cell division. Two alternative splice variants of HIPK2, HIPK2-FL and HIPK2-Δe8, have been previously identified as having different protein stability but similar functional activity in the stress response.
Veronica Gatti +9 more
openaire +4 more sources
BMC Medical Genomics, 2023 Whole exome sequencing (WES) can also detect some intronic variants, which may affect splicing and gene expression, but how to use these intronic variants, and the characteristics about them has not been reported.
Li Zhang +9 more
doaj +1 more source
, 2023 Background: Hereditary spherocytosis (HS) is a congenital haemolytic anaemia attributed to dysregulation or abnormal quantities of erythrocyte membrane proteins.
Bixin Xi (2408707) +5 more
core +1 more source
Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency [PDF]
, 2021 Complex I deficiency is the most common pediatric mitochondrial disease. It can cause a wide range of clinical disorders, including Leigh syndrome.
Nievelstein, Rutger A J +5 more
core +2 more sources
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy [PDF]
, 2020 Pseudo-exon inclusion caused by deep intronic variants is an important genetic cause for various disorders. Here, we present a case of a hypomyelinating leukodystrophy with developmental delay, intellectual disability, autism spectrum disorder and ...
Hiraide, Takuya +11 more
core +2 more sources
Genome-wide detection of human variants that disrupt intronic branchpoints
Proceedings of the National Academy of Sciences, 2022 Pre-messenger RNA splicing is initiated with the recognition of a single-nucleotide intronic branchpoint (BP) within a BP motif by spliceosome elements. Forty-eight rare variants in 43 human genes have been reported to alter splicing and cause disease by disrupting BP.
Peng Zhang +15 more
openaire +3 more sources
A Novel Homozygous Intronic Variant in TNNT2 Associates With Feline Cardiomyopathy [PDF]
Frontiers in Physiology, 2020 Hypertrophic cardiomyopathy (HCM) is a genetic disease of the heart and the most common cause of sudden cardiac death in the young. HCM is considered a disease of the sarcomere owing to the large number of mutations in genes encoding sarcomeric proteins. The riddle lies in discovering how these mutations lead to disease.
James W. McNamara +3 more
openaire +3 more sources