Splicing mutations in the PDHA1 gene

Splicing mutations in the PDHA1 gene

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Ridout, C, Brown, R, Brown, G
Μορφή:	Journal article
Έκδοση:	2008

Παρόμοια τεκμήρια

A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
ανά: Ridout, C, κ.ά.
Έκδοση: (2008)

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency
ανά: Ridout, C, κ.ά.
Έκδοση: (2008)

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
ανά: Ridout, C, κ.ά.
Έκδοση: (2008)

ERN1 KNOCKDOWN AFFECTS THE EXPRESSION OF PDHA1, PDHB, PDHX, DLD, AND DLAT GENES AND MODIFIES THEIR HYPOXIC REGULATION
ανά: Y.P. KHIKHLO, κ.ά.
Έκδοση: (2024-04-01)

RNF4 mediated degradation of PDHA1 promotes colorectal cancer metabolism and metastasis
ανά: Jierong Chen, κ.ά.
Έκδοση: (2024-11-01)

Comprehensive analyses of PDHA1 that serves as a predictive biomarker for immunotherapy response in cancer
ανά: Langmei Deng, κ.ά.
Έκδοση: (2022-08-01)

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy
ανά: Ke Gong, κ.ά.
Έκδοση: (2021-04-01)

AMPK maintains TCA cycle through sequential phosphorylation of PDHA to promote tumor metastasis
ανά: Zhen Cai, κ.ά.
Έκδοση: (2020-11-01)

Artificial intelligence reveals dysregulation of osteosarcoma and cuproptosis-related biomarkers, PDHA1, CDKN2A and neutrophils
ανά: Jie Jiang, κ.ά.
Έκδοση: (2023-03-01)

PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation
ανά: Sheng An, κ.ά.
Έκδοση: (2023-07-01)

Multi-omics Insights into PDHA1 as a Predictive Biomarker for Prognosis, Immunotherapy Efficacy, and Drug Sensitivity in Hepatocellular Carcinoma
ανά: Yong Pan, κ.ά.
Έκδοση: (2024-11-01)

SIRT3 elicited an anti‐Warburg effect through HIF1α/PDK1/PDHA1 to inhibit cholangiocarcinoma tumorigenesis
ανά: Lei Xu, κ.ά.
Έκδοση: (2019-05-01)

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency
ανά: Thi Thanh Ngan Nguyen, κ.ά.
Έκδοση: (2024-12-01)

Identification of aberrant splicing events in myelodysplastic syndrome patients with splicing factor gene mutations
ανά: Pellagatti, A, κ.ά.
Έκδοση: (2017)

Identification of immunogenic proteins and evaluation of recombinant PDHA1 and GAPDH as potential vaccine candidates against Streptococcus iniae infection in flounder (Paralichthys olivaceus).
ανά: Xiuzhen Sheng, κ.ά.
Έκδοση: (2018-01-01)

Splice site mutations in the ATP7A gene.
ανά: Tina Skjørringe, κ.ά.
Έκδοση: (2011-04-01)

Exosomal miR-21-5p from glioma associated mesenchymal stem cells promotes the progression and glycolysis of glioblastoma via PDHA1
ανά: Yanbin Zhang, κ.ά.
Έκδοση: (2025-01-01)

Deep learning for alternative splicing
ανά: Brown, R
Έκδοση: (2019)

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

Functional analysis of the GPAT4 gene mutation predicted to affect splicing
ανά: Sergey A. Bursakov, κ.ά.
Έκδοση: (2024-12-01)

Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches
ανά: Armstrong, R, κ.ά.
Έκδοση: (2017)

Alternative Splicing of Barley Clock Genes in Response to Low Temperature.
ανά: Cristiane P G Calixto, κ.ά.
Έκδοση: (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
ανά: Mohammed Selman, κ.ά.
Έκδοση: (2012-07-01)

An extended nomenclature for mammalian V-ATPase subunit genes and splice variants.
ανά: Kevin C Miranda, κ.ά.
Έκδοση: (2010-03-01)

NF1 Gene Novel Splicing Mutations in a Chinese Family with Neurofibromatosis Type 1: Case Series
ανά: Wu T, κ.ά.
Έκδοση: (2022-10-01)

Induced splice site mutation generates alternative intron splicing in starch synthase II (SSII) gene in rice
ανά: Chao Chen, κ.ά.
Έκδοση: (2017-11-01)

Exploring the Crosstalk Between LMNA and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy
ανά: Hind C. Zahr, κ.ά.
Έκδοση: (2018-07-01)

Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
ανά: Sarah Snanoudj, κ.ά.
Έκδοση: (2019-08-01)

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in <it>MR </it>gene
ανά: Kaito Hiroshi, κ.ά.
Έκδοση: (2009-11-01)

Mutations in hnRNP A1 drive neurodegeneration and alternative RNA splicing of neuronal gene targets
ανά: Ansalna Ansari, κ.ά.
Έκδοση: (2025-03-01)

The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence
ανά: Afonin Kirill A, κ.ά.
Έκδοση: (2008-02-01)

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing
ανά: Malik, N, κ.ά.
Έκδοση: (2006)

Alternative Splicing of Circadian Clock Genes Correlates With Temperature in Field-Grown Sugarcane
ανά: Luíza L. B. Dantas, κ.ά.
Έκδοση: (2019-12-01)

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency
ανά: Brown, R, κ.ά.
Έκδοση: (2004)

A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
ανά: Junyu Zhang, κ.ά.
Έκδοση: (2013-01-01)

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>)
ανά: Xiuzhen Sheng, κ.ά.
Έκδοση: (2023-03-01)

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
ανά: Michelle Wong-Brown, κ.ά.
Έκδοση: (2022-05-01)

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

Report of a Novel Splicing Mutation in the Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the Mutations
ανά: Elinaz Akbariazar, κ.ά.
Έκδοση: (2019-09-01)

Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
ανά: Croxen, R, κ.ά.
Έκδοση: (2000)