Splicing mutations in the PDHA1 gene

Splicing mutations in the PDHA1 gene

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Ridout, C, Brown, R, Brown, G
Формат:	Journal article
Хэвлэсэн:	2008

Ижил төстэй зүйлс

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
-н: Ridout, C, зэрэг
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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency
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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
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ERN1 KNOCKDOWN AFFECTS THE EXPRESSION OF PDHA1, PDHB, PDHX, DLD, AND DLAT GENES AND MODIFIES THEIR HYPOXIC REGULATION
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RNF4 mediated degradation of PDHA1 promotes colorectal cancer metabolism and metastasis
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Comprehensive analyses of PDHA1 that serves as a predictive biomarker for immunotherapy response in cancer
-н: Langmei Deng, зэрэг
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Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy
-н: Ke Gong, зэрэг
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Artificial intelligence reveals dysregulation of osteosarcoma and cuproptosis-related biomarkers, PDHA1, CDKN2A and neutrophils
-н: Jie Jiang, зэрэг
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PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation
-н: Sheng An, зэрэг
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Multi-omics Insights into PDHA1 as a Predictive Biomarker for Prognosis, Immunotherapy Efficacy, and Drug Sensitivity in Hepatocellular Carcinoma
-н: Yong Pan, зэрэг
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SIRT3 elicited an anti‐Warburg effect through HIF1α/PDK1/PDHA1 to inhibit cholangiocarcinoma tumorigenesis
-н: Lei Xu, зэрэг
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Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency
-н: Thi Thanh Ngan Nguyen, зэрэг
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Identification of aberrant splicing events in myelodysplastic syndrome patients with splicing factor gene mutations
-н: Pellagatti, A, зэрэг
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Identification of immunogenic proteins and evaluation of recombinant PDHA1 and GAPDH as potential vaccine candidates against Streptococcus iniae infection in flounder (Paralichthys olivaceus).
-н: Xiuzhen Sheng, зэрэг
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Splice site mutations in the ATP7A gene.
-н: Tina Skjørringe, зэрэг
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Exosomal miR-21-5p from glioma associated mesenchymal stem cells promotes the progression and glycolysis of glioblastoma via PDHA1
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Deep learning for alternative splicing
-н: Brown, R
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Functional analysis of the GPAT4 gene mutation predicted to affect splicing
-н: Sergey A. Bursakov, зэрэг
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Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches
-н: Armstrong, R, зэрэг
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Alternative Splicing of Barley Clock Genes in Response to Low Temperature.
-н: Cristiane P G Calixto, зэрэг
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NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series
-н: Wu T, зэрэг
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Adaptive mutation in influenza A virus non-structural gene is linked to host switching and induces a novel protein by alternative splicing
-н: Mohammed Selman, зэрэг
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An extended nomenclature for mammalian V-ATPase subunit genes and splice variants.
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Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy
-н: Hind C. Zahr, зэрэг
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Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
-н: Sarah Snanoudj, зэрэг
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Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in <it>MR </it>gene
-н: Kaito Hiroshi, зэрэг
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Mutations in hnRNP A1 drive neurodegeneration and alternative RNA splicing of neuronal gene targets
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The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence
-н: Afonin Kirill A, зэрэг
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Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing
-н: Malik, N, зэрэг
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A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
-н: Junyu Zhang, зэрэг
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Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
-н: Ainhoa Martínez-Pizarro, зэрэг
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Alternative Splicing of Circadian Clock Genes Correlates With Temperature in Field-Grown Sugarcane
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Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency
-н: Brown, R, зэрэг
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Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
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Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
-н: Croxen, R, зэрэг
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GoT-Splice protocol for multi-omics profiling of gene expression, cell-surface proteins, mutational status, and RNA splicing in human cells
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ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
-н: Burgess, R, зэрэг
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Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern
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Development and Evaluation of Recombinant B-Cell Multi-Epitopes of PDHA1 and GAPDH as Subunit Vaccines against <i>Streptococcus iniae</i> Infection in Flounder (<i>Paralichthys olivaceus</i>)
-н: Xiuzhen Sheng, зэрэг
Хэвлэсэн: (2023-03-01)

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations
-н: Pellagatti, A, зэрэг
Хэвлэсэн: (2018)