Splicing mutations in the PDHA1 gene

Splicing mutations in the PDHA1 gene

Manylion Llyfryddiaeth
Prif Awduron:	Ridout, C, Brown, R, Brown, G
Fformat:	Journal article
Cyhoeddwyd:	2008

Eitemau Tebyg

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
gan: Ridout, C, et al.
Cyhoeddwyd: (2008)

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency
gan: Ridout, C, et al.
Cyhoeddwyd: (2008)

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
gan: Ridout, C, et al.
Cyhoeddwyd: (2008)

ERN1 KNOCKDOWN AFFECTS THE EXPRESSION OF PDHA1, PDHB, PDHX, DLD, AND DLAT GENES AND MODIFIES THEIR HYPOXIC REGULATION
gan: Y.P. KHIKHLO, et al.
Cyhoeddwyd: (2024-04-01)

RNF4 mediated degradation of PDHA1 promotes colorectal cancer metabolism and metastasis
gan: Jierong Chen, et al.
Cyhoeddwyd: (2024-11-01)

Comprehensive analyses of PDHA1 that serves as a predictive biomarker for immunotherapy response in cancer
gan: Langmei Deng, et al.
Cyhoeddwyd: (2022-08-01)

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy
gan: Ke Gong, et al.
Cyhoeddwyd: (2021-04-01)

AMPK maintains TCA cycle through sequential phosphorylation of PDHA to promote tumor metastasis
gan: Zhen Cai, et al.
Cyhoeddwyd: (2020-11-01)

Artificial intelligence reveals dysregulation of osteosarcoma and cuproptosis-related biomarkers, PDHA1, CDKN2A and neutrophils
gan: Jie Jiang, et al.
Cyhoeddwyd: (2023-03-01)

PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation
gan: Sheng An, et al.
Cyhoeddwyd: (2023-07-01)

Multi-omics Insights into PDHA1 as a Predictive Biomarker for Prognosis, Immunotherapy Efficacy, and Drug Sensitivity in Hepatocellular Carcinoma
gan: Yong Pan, et al.
Cyhoeddwyd: (2024-11-01)

SIRT3 elicited an anti‐Warburg effect through HIF1α/PDK1/PDHA1 to inhibit cholangiocarcinoma tumorigenesis
gan: Lei Xu, et al.
Cyhoeddwyd: (2019-05-01)

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency
gan: Thi Thanh Ngan Nguyen, et al.
Cyhoeddwyd: (2024-12-01)

Identification of aberrant splicing events in myelodysplastic syndrome patients with splicing factor gene mutations
gan: Pellagatti, A, et al.
Cyhoeddwyd: (2017)

Identification of immunogenic proteins and evaluation of recombinant PDHA1 and GAPDH as potential vaccine candidates against Streptococcus iniae infection in flounder (Paralichthys olivaceus).
gan: Xiuzhen Sheng, et al.
Cyhoeddwyd: (2018-01-01)

Splice site mutations in the ATP7A gene.
gan: Tina Skjørringe, et al.
Cyhoeddwyd: (2011-04-01)

Exosomal miR-21-5p from glioma associated mesenchymal stem cells promotes the progression and glycolysis of glioblastoma via PDHA1
gan: Yanbin Zhang, et al.
Cyhoeddwyd: (2025-01-01)

Deep learning for alternative splicing
gan: Brown, R
Cyhoeddwyd: (2019)

codY and pdhA Expression Is Induced in Staphylococcus epidermidis Biofilm and Planktonic Populations With Higher Proportions of Viable but Non-Culturable Cells
gan: Vânia Gaio, et al.
Cyhoeddwyd: (2021-11-01)

Functional analysis of the GPAT4 gene mutation predicted to affect splicing
gan: Sergey A. Bursakov, et al.
Cyhoeddwyd: (2024-12-01)

Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches
gan: Armstrong, R, et al.
Cyhoeddwyd: (2017)

Alternative Splicing of Barley Clock Genes in Response to Low Temperature.
gan: Cristiane P G Calixto, et al.
Cyhoeddwyd: (2016-01-01)

Adaptive mutation in influenza A virus non-structural gene is linked to host switching and induces a novel protein by alternative splicing
gan: Mohammed Selman, et al.
Cyhoeddwyd: (2012-07-01)

An extended nomenclature for mammalian V-ATPase subunit genes and splice variants.
gan: Kevin C Miranda, et al.
Cyhoeddwyd: (2010-03-01)

NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series
gan: Wu T, et al.
Cyhoeddwyd: (2022-10-01)

Induced splice site mutation generates alternative intron splicing in starch synthase II (SSII) gene in rice
gan: Chao Chen, et al.
Cyhoeddwyd: (2017-11-01)

Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy
gan: Hind C. Zahr, et al.
Cyhoeddwyd: (2018-07-01)

Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
gan: Sarah Snanoudj, et al.
Cyhoeddwyd: (2019-08-01)

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in <it>MR </it>gene
gan: Kaito Hiroshi, et al.
Cyhoeddwyd: (2009-11-01)

Mutations in hnRNP A1 drive neurodegeneration and alternative RNA splicing of neuronal gene targets
gan: Ansalna Ansari, et al.
Cyhoeddwyd: (2025-03-01)

The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence
gan: Afonin Kirill A, et al.
Cyhoeddwyd: (2008-02-01)

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing
gan: Malik, N, et al.
Cyhoeddwyd: (2006)

Alternative Splicing of Circadian Clock Genes Correlates With Temperature in Field-Grown Sugarcane
gan: Luíza L. B. Dantas, et al.
Cyhoeddwyd: (2019-12-01)

A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
gan: Junyu Zhang, et al.
Cyhoeddwyd: (2013-01-01)

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency
gan: Brown, R, et al.
Cyhoeddwyd: (2004)

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
gan: Michelle Wong-Brown, et al.
Cyhoeddwyd: (2022-05-01)

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>)
gan: Xiuzhen Sheng, et al.
Cyhoeddwyd: (2023-03-01)

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
gan: Ainhoa Martínez-Pizarro, et al.
Cyhoeddwyd: (2018-04-01)

Report of a Novel Splicing Mutation in the Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the Mutations
gan: Elinaz Akbariazar, et al.
Cyhoeddwyd: (2019-09-01)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
gan: Croxen, R, et al.
Cyhoeddwyd: (2000)