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