Citations for
1PDHA2, SPGF70
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia
Kherraf ZE, Cazin C, Bouker A, Fourati Ben Mustapha S, Hennebicq S, Septier A, Coutton C, Raymond L, Nouchy M, Thierry-Mieg N, Zouari R, Arnoult C, Ray PF.
Am J Hum Genet. Mar 3;109(3):508-517. doi: 10.1016/j.ajhg.2022.01.011. Epub 2022 Feb 15. 2022
2ALDH1B, PDHA1, PDHA2
Pairwise correlation of genes involved in glucose metabolism: a potential diagnostic marker of cancer?
Sakharkar MK, Rajamanickam K, Ji S, Dhillon SK, Yang J.
Genes Cancer. Jun 17;12:69-76. doi: 10.18632/genesandcancer.216. 2021
3PDHA2, SPGF70
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A.
Eur J Hum Genet. Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7. Epub 2018 Mar 26. 2018
4PDHA1, PDHA2
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I. Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia
Gene. Oct 15;591(2):417-24. doi: 10.1016/j.gene.2016.06.041. Epub 2016 Jun 22. 2016
5PDHA2
Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues
Pinheiro A, Nunes MJ, Milagre I, Rodrigues E, Silva MJ, de Almeida IT, Rivera I.
PLoS One 2012;7(6):e38076. doi: 10.1371/journal.pone.0038076. Epub 2012 Jun 1 2012
6PDHA1, PDHA2
Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis
Pinheiro A, Silva MJ, Graça I, Silva J, Sá R, Sousa M, Barros A, Tavares de Almeida I, Rivera I.
Gene. Sep 10;506(1):173-8. doi: 10.1016/j.gene.2012.06.068. Epub 2012 Jun 29. 2012
7PDHA1, PDHA2
Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity.
Pinheiro A, Faustino I, Silva MJ, Silva J, Sá R, Sousa M, Barros A, de Almeida IT, Rivera I.
Mol Genet Metab 99(4):425-30. Epub 2009 Nov 16. 2010
8PDHA2
Hamster sperm capacitation: role of pyruvate dehydrogenase A and dihydrolipoamide dehydrogenase.
Kumar V, Kota V, Shivaji S.
Biol Reprod 79(2):190-9. Epub 2008 Apr 9.PMID: 18401010 2008
9PDHA2
Activity of pyruvate dehydrogenase A (PDHA) in hamster spermatozoa correlates positively with hyperactivation and is associated with sperm capacitation.
Kumar V, Rangaraj N, Shivaji S.
Biol Reprod 75(5):767-77. Epub 2006 Jul 19.PMID: 16855207 2006
10PDHA2
Characterization of the regulatory region of the human testis-specific form of the pyruvate dehydrogenase alpha-subunit (PDHA-2) gene.
Datta U, Wexler ID, Kerr DS, Raz I, Patel MS.
Biochim Biophys Acta 1447(2-3):236-43 1999
11PDHA2
Pyruvate dehydrogenase E1 alpha isoform in rat testis: cDNA cloning, characterization, and biochemical comparison of the recombinant testis and liver enzymes.
Jeng J, Kallarakal AT, Kim SF, Popov KM, Song BJ.
Comp Biochem Physiol B Biochem Mol Biol 120(1):205-16. 1998
12PDHA2
A testis-specific form of the human pyruvate dehydrogenase E1alpha subunit is coded for by an intronless gene on chromosome 4.
Dahl HHM, et al.
Genomics 8 : 225-232. 1990
13PDHA1, PDHA2
X-chromosome localization of the functional gene for the E1î subunit of the human pyruvate dehydrogenase complex.
Brown RM, et al.
Genomics 4 : 174-181. 1989