Cargando…

Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)

Detalles Bibliográficos
Autores principales:	Kim, Jiyeon, Yu, Joonsang, Lee, Seunghoo, Kim, Sollip, Lee, In-Seob, Lee, Woochang, Chun, Sail
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society for Laboratory Medicine 2024
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10628752/ https://www.ncbi.nlm.nih.gov/pubmed/37840312 http://dx.doi.org/10.3343/alm.2023.0163

Ejemplares similares

Skeletal Muscle Mass Measurement via Bioelectrical Impedance Analysis as an Aid to Screen for Chronic Kidney Disease in Routine Health Checkups
por: Lee, Seunghoo, et al.
Publicado: (2024)

Improving the Work Efficiency of Therapeutic Drug Monitoring Reports Through the Establishment of an Automated Data Transfer System
por: Lee, Seunghoo, et al.
Publicado: (2023)

Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis
por: Hua, Chunxiao, et al.
Publicado: (2023)

Validation of New Allele-Specific Real-Time PCR System for Thiopurine Methyltransferase Genotyping in Korean Population
por: Kim, Sollip, et al.
Publicado: (2013)

Associations between intronic non-B DNA structures and exon skipping
por: Tsai, Zing Tsung-Yeh, et al.
Publicado: (2014)

A spliceosomal twin intron (stwintron) participates in both exon skipping and evolutionary exon loss
por: Kavalecz, Napsugár, et al.
Publicado: (2019)

ExonSkipDB: functional annotation of exon skipping event in human
por: Kim, Pora, et al.
Publicado: (2020)

Strategies to shorten turnaround time in outpatient laboratory
por: Lee, Seunghoo, et al.
Publicado: (2022)

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant
por: Koboldt, Daniel C., et al.
Publicado: (2020)

Expression of IMPDH mRNA after Mycophenolate Administration in Male Volunteers
por: Kim, Sollip, et al.
Publicado: (2014)

Exon skipping for DMD
por: Aartsma-Rus, Annemieke, et al.
Publicado: (2012)

Non-EST based prediction of exon skipping and intron retention events using Pfam information
por: Hiller, Michael, et al.
Publicado: (2005)

DMD antisense oligonucleotide mediated exon skipping efficiency correlates with flanking intron retention time and target position within the exon
por: Goossens, Remko, et al.
Publicado: (2023)

Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2
por: Doktor, Thomas Koed, et al.
Publicado: (2014)

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa
por: Bremer, Jeroen, et al.
Publicado: (2019)

1408. Epidemiology of Nitroimidazole-refractory Giardiasis
por: Ydsten, Karin, et al.
Publicado: (2023)

Variants Affecting Exon Skipping Contribute to Complex Traits
por: Lee, Younghee, et al.
Publicado: (2012)

Therapeutic exon skipping for dysferlinopathies?
por: Aartsma-Rus, Annemieke, et al.
Publicado: (2010)

RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance (SDHD c.314+3A>T) in Splicing Site Consensus Sequences
por: Gu, Hyunjung, et al.
Publicado: (2022)

Amendments to the Annex VII of Document CERN/1408
Publicado: (1981)

Exon-Skipping in Duchenne Muscular Dystrophy
por: Takeda, Shin’ichi, et al.
Publicado: (2021)

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
por: Greer, Kane L, et al.
Publicado: (2014)

Identification of exon skipping events associated with Alzheimer’s disease in the human hippocampus
por: Han, Seonggyun, et al.
Publicado: (2019)

Exon-skipping antisense oligonucleotides for cystic fibrosis therapy
por: Kim, Young Jin, et al.
Publicado: (2022)

Characterizing exons and introns by regularity of nucleotide strings
por: Woods, Tonya, et al.
Publicado: (2016)

Inhibition of Melanosome Transport by Inducing Exon Skipping in Melanophilin
por: Kim, Jin Young, et al.
Publicado: (2023)

Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer’s disease
por: Lee, Younghee, et al.
Publicado: (2018)

Insecticide resistance mediated by an exon skipping event
por: Berger, Madeleine, et al.
Publicado: (2016)

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa
por: Vermeer, Franciscus C., et al.
Publicado: (2021)

Deleterious c-Cbl Exon Skipping Contributes to Human Glioma()()
por: Seong, Min Woo, et al.
Publicado: (2015)

Reducing Sanger confirmation testing through false positive prediction algorithms
por: Holt, James M., et al.
Publicado: (2021)

Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
por: Saravanaperumal, Siva Arumugam, et al.
Publicado: (2012)

An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers
por: Downs, Louise M., et al.
Publicado: (2014)

Capmatinib in MET Exon 14 Skipping Mutation-Positive Lung Adenocarcinoma with Extensive Central Nervous System Metastasis
por: Kim, Tae Woo, et al.
Publicado: (2022)

Activation of Cryptic 3′ Splice-Sites by SRSF2 Contributes to Cassette Exon Skipping
por: Moon, Heegyum, et al.
Publicado: (2019)

Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays
por: Kechris, Katerina, et al.
Publicado: (2008)

Classifying Included and Excluded Exons in Exon Skipping Event Using Histone Modifications
por: Chen, Wei, et al.
Publicado: (2018)

A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across the DMD Gene to Simulate the Effects of Exon-Skipping Therapies: A Meta-Analysis
por: Anwar, Saeed, et al.
Publicado: (2021)

Intron Retention and TE Exonization Events in ZRANB2
por: Park, Sang-Je, et al.
Publicado: (2012)

Multiple exon skipping strategies to by-pass dystrophin mutations
por: Adkin, Carl F., et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_k7jc8789ipc6quqd04lj6ipaqo