Results 31 to 40 of about 50,370 (253)
Intronic variants in inborn errors of metabolism: Beyond the exome
Frontiers in Genetics, 2022 Non-coding regions are areas of the genome that do not directly encode protein and were initially thought to be of little biological relevance. However, subsequent identification of pathogenic variants in these regions indicates there are exceptions to this assertion.
Ashley Hertzog +14 more
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Association of Intronic Variants of the BTBD9 Gene With Tourette Syndrome [PDF]
Archives of Neurology, 2009 To test the association between Tourette syndrome (TS) and genetic variants in genomic loci MEIS1, MAP2K5/LBXCOR1, and BTBD9, for which genome-wide association studies in restless legs syndrome and periodic limb movements during sleep revealed common risk variants.Case-control association study.Movement disorder clinic in Montreal. Subjects We typed 14
Rivière, Jean-Baptiste +10 more
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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
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
Scientific Reports, 2023 Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene ...
Laura Whelan +16 more
doaj +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
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
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
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 Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Circulation. Genomic and precision medicine, 2018 Familial hypercholesterolemia (FH) is an inherited disorder characterized by high plasma LDL-C (low-density lipoprotein-cholesterol) levels. The vast majority of FH patients carry a mutation in the coding region of LDLR, APOB, or PCSK9. We set out to identify the culprit genetic defect in a large family with clinical FH, in whom no mutations were ...
Reeskamp, Laurens F. +7 more
openaire +2 more sources
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation [PDF]
Human Mutation, 2019 Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable number of cases (~5%) harboring only a single pathogenic variant in the major ACHM gene CNGB3. We sequenced the entire CNGB3 locus in 33 of these patients to find a second variant which eventually explained the patients' phenotype.
Weisschuh, Nicole +24 more
openaire +6 more sources