Cargando…

Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1

Cerebral adrenoleukodystrophy (CALD) is a fatal genetic disease characterized by rapid, devastating neurological decline, with a narrow curative treatment window in the early stage. Non-canonical splice-site (NCSS) variants can easily be missed during genomic DNA analyses, and only a few of them in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zheng, Feixia, Lin, Zhongdong, Hu, Ying, Shi, Xulai, Zhao, Qianlei, Lin, Zhenlang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863105/ https://www.ncbi.nlm.nih.gov/pubmed/36675402 http://dx.doi.org/10.3390/jcm12020473

Ejemplares similares

Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report
por: Shi, Xulai, et al.
Publicado: (2018)

Treatment of hyponatremia in children with acute bacterial meningitis
por: Zheng, Feixia, et al.
Publicado: (2022)

Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia
por: Li, Xiucui, et al.
Publicado: (2021)

Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism: A CARE-compliant case report
por: Zheng, Feixia, et al.
Publicado: (2017)

Management of Refractory Orofacial Dyskinesia Caused by Anti-N-methyl-d-aspartate Receptor Encephalitis Using Botulinum Toxin
por: Zheng, Feixia, et al.
Publicado: (2018)

Hyponatremia in Children With Bacterial Meningitis
por: Zheng, Feixia, et al.
Publicado: (2019)

Different experiences of two PRRT2-associated self-limited familial infantile epilepsy
por: Zhao, Qianlei, et al.
Publicado: (2020)

All reported non-canonical splice site variants in GLA cause aberrant splicing
por: Okada, Eri, et al.
Publicado: (2023)

Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes
por: Dragoš, Vita Šetrajčič, et al.
Publicado: (2022)

Identification of a Novel Canonical Splice Site Variant TSC2 c.2967-1G>T That is Not Associated With Tuberous Sclerosis Pathogenesis
por: Duan, Jing, et al.
Publicado: (2022)

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR
por: Kortüm, Friederike, et al.
Publicado: (2021)

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes
por: Rodriguez-Muñoz, Ana, et al.
Publicado: (2022)

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
por: Reurink, Janine, et al.
Publicado: (2022)

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants
por: Toulis, Vasileios, et al.
Publicado: (2020)

Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype
por: Priglinger, Claudia S., et al.
Publicado: (2022)

Identification of motifs that function in the splicing of non-canonical introns
por: Murray, Jill I, et al.
Publicado: (2008)

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants
por: Weisschuh, Nicole, et al.
Publicado: (2021)

A comprehensive survey of non-canonical splice sites in the human transcriptome
por: Parada, Guillermo E., et al.
Publicado: (2014)

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites
por: Zhang, Peng, et al.
Publicado: (2023)

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes
por: Matsukawa, Takashi, et al.
Publicado: (2010)

Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia
por: Song, Jiayu, et al.
Publicado: (2022)

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis
por: Liu, Yuefang, et al.
Publicado: (2023)

Animal, Fungi, and Plant Genome Sequences Harbor Different Non-Canonical Splice Sites
por: Frey, Katharina, et al.
Publicado: (2020)

A Novel, Non-canonical Splice Variant of the Ikaros Gene Is Aberrantly Expressed in B-cell Lymphoproliferative Disorders
por: Capece, Daria, et al.
Publicado: (2013)

Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa
por: Koller, Samuel, et al.
Publicado: (2023)

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site
por: Tang, Peter H., et al.
Publicado: (2019)

Novel Bioinformatics Method for Identification of Genome-Wide Non-Canonical Spliced Regions Using RNA-Seq Data
por: Bai, Yongsheng, et al.
Publicado: (2014)

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
por: Fadaie, Zeinab, et al.
Publicado: (2019)

Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site DDX3X Variant: A Case Report of a Rare Clinical Syndrome
por: Stefaniak, Urszula, et al.
Publicado: (2022)

Non-canonical function of an Hif-1α splice variant contributes to the sustained flight of locusts
por: Ding, Ding, et al.
Publicado: (2022)

Genome-wide analyses supported by RNA-Seq reveal non-canonical splice sites in plant genomes
por: Pucker, Boas, et al.
Publicado: (2018)

Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells
por: Joynt, Anya T., et al.
Publicado: (2023)

Identification of genome-wide non-canonical spliced regions and analysis of biological functions for spliced sequences using Read-Split-Fly
por: Bai, Yongsheng, et al.
Publicado: (2017)

Identification and interpretation of TET2 noncanonical splicing site intronic variants in myeloid neoplasm patients
por: Das, Riku, et al.
Publicado: (2023)

Atypical Sotos syndrome caused by a novel splice site variant
por: Minatogawa, Mari, et al.
Publicado: (2022)

Identification of novel non-canonical RNA-binding sites in Gemin5 involved in internal initiation of translation
por: Fernandez-Chamorro, Javier, et al.
Publicado: (2014)

Consideration of non-canonical splice sites improves gene prediction on the Arabidopsis thaliana Niederzenz-1 genome sequence
por: Pucker, Boas, et al.
Publicado: (2017)

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
por: Pasquetti, Domizia, et al.
Publicado: (2023)

Non-Canonical Splicing and Its Implications in Brain Physiology and Cancer
por: Pitolli, Consuelo, et al.
Publicado: (2022)

Identification of a non-canonical nuclear localization signal (NLS) in BRCA1 that could mediate nuclear localization of splice variants lacking the classical NLS
por: Korlimarla, Aruna, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_5h4bt1n6vodo5prthcukphi0rs