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The mutational spectrum of WT1 in male infertility.J Urol. 2015 May;193(5):1709-15. doi: 10.1016/j.juro.2014.11.004. Epub 2014 Nov 11.
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Aryl hydrocarbon receptor rs2066853 gene polymorphisms and male infertility risk: a meta-analysis.Ren Fail. 2019 Nov;41(1):987-994. doi: 10.1080/0886022X.2019.1673775.
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Assessment of the reproductive toxicity of inhalation exposure to ethyl tertiary butyl ether in male mice with normal, low active and inactive ALDH2.Arch Toxicol. 2014 Apr;88(4):1007-21. doi: 10.1007/s00204-014-1192-z. Epub 2014 Jan 22.
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ALKBH5-dependent m6A demethylation controls splicing and stability of long 3'-UTR mRNAs in male germ cells.Proc Natl Acad Sci U S A. 2018 Jan 9;115(2):E325-E333. doi: 10.1073/pnas.1717794115. Epub 2017 Dec 26.
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Possible effects of metallosis on spermatozoal apoptotic genes expression in individuals with intramedullary nailing prosthesis.Biol Trace Elem Res. 2014 Jun;158(3):334-41. doi: 10.1007/s12011-014-9965-z. Epub 2014 Apr 11.
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Molecular cloning and expression of a novel alternative splice variant of BRDT gene.Int J Mol Med. 2005 Feb;15(2):315-21.
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Androgen-dependent apoptosis in male germ cells is regulated through the proto-oncoprotein Cbl.J Cell Biol. 2005 Nov 21;171(4):651-61. doi: 10.1083/jcb.200507076.
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The association between variants in the CFTR gene and nonobstructive male infertility: A meta-analysis.Andrologia. 2020 Mar;52(2):e13475. doi: 10.1111/and.13475. Epub 2019 Dec 10.
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Association of T/A polymorphism in miR-1302 binding site in CGA gene with male infertility in Isfahan population.Mol Biol Rep. 2018 Aug;45(4):413-417. doi: 10.1007/s11033-018-4176-x. Epub 2018 Apr 7.
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Searching for candidate genes for male infertility.Asian J Androl. 2003 Jun;5(2):137-47.
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The polymorphism (-600 C>A) of CpG methylation site at the promoter region of CYP17A1 and its association of male infertility and testosterone levels.Gene. 2014 Jan 15;534(1):107-12. doi: 10.1016/j.gene.2013.09.088. Epub 2013 Oct 17.
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Do men with normal testosterone-oestradiol ratios benefit from letrozole for the treatment of male infertility?.Reprod Biomed Online. 2019 Jan;38(1):39-45. doi: 10.1016/j.rbmo.2018.09.016. Epub 2018 Oct 30.
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Idiopathic male infertility and polymorphisms in the DNA methyltransferase genes involved in epigenetic marking.Sci Rep. 2017 Sep 11;7(1):11219. doi: 10.1038/s41598-017-11636-9.
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Possible association of FAS and FASLG polymorphisms with the risk of idiopathic azoospermia in southeast Turkey.Genet Test Mol Biomarkers. 2014 Jun;18(6):383-8. doi: 10.1089/gtmb.2013.0454. Epub 2014 Mar 25.
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The SCF/c-KIT system in the male: Survival strategies in fertility and cancer.Mol Reprod Dev. 2014 Dec;81(12):1064-79. doi: 10.1002/mrd.22430. Epub 2014 Oct 30.
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SNPs in KIT and KITLG genes may be associated with oligospermia in Chinese population.Biomarkers. 2013 Dec;18(8):650-4. doi: 10.3109/1354750X.2013.838307. Epub 2013 Oct 1.
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Transcriptional profiling of luteinizing hormone receptor-deficient mice before and after testosterone treatment provides insight into the hormonal control of postnatal testicular development and Leydig cell differentiation.Biol Reprod. 2010 Jun;82(6):1139-50. doi: 10.1095/biolreprod.109.082099. Epub 2010 Feb 17.
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Genetic variation of hormone sensitive lipase and male infertility.Syst Biol Reprod Med. 2011 Dec;57(6):288-91. doi: 10.3109/19396368.2011.608179. Epub 2011 Sep 15.
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Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population.Asian J Androl. 2012 Sep;14(5):691-4. doi: 10.1038/aja.2012.39. Epub 2012 Jul 9.
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Crosstalk between BPA and FXR Signaling Pathways Lead to Alterations of Undifferentiated Germ Cell Homeostasis and Male Fertility Disorders.Stem Cell Reports. 2018 Oct 9;11(4):944-958. doi: 10.1016/j.stemcr.2018.08.018. Epub 2018 Sep 20.
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Association between neuropeptide oxytocin and male infertility.J Assist Reprod Genet. 2010 Sep;27(9-10):525-31. doi: 10.1007/s10815-010-9451-2. Epub 2010 Aug 14.
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Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.Cancer Res. 2009 Jul 1;69(13):5301-6. doi: 10.1158/0008-5472.CAN-09-0884. Epub 2009 Jun 23.
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The expression of the new epididymal luminal protein of PDZ domain containing 1 is decreased in asthenozoospermia.Asian J Androl. 2018 Mar-Apr;20(2):154-159. doi: 10.4103/aja.aja_65_17.
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Genotype and phenotype frequencies of paraoxonase 1 in fertile and infertile men.Syst Biol Reprod Med. 2014 Dec;60(6):361-6. doi: 10.3109/19396368.2014.960624. Epub 2014 Sep 29.
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Strong association of SLC1A1 and DPF3 gene variants with idiopathic male infertility in Han Chinese.Asian J Androl. 2017 Jul-Aug;19(4):486-492. doi: 10.4103/1008-682X.178850.
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The demise of preimplantation genetic testing for aneuploidy (PGT-A) in Hungary and its effect on patient care.Eur J Med Genet. 2019 Aug;62(8):103669. doi: 10.1016/j.ejmg.2019.05.008. Epub 2019 May 10.
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Semen quality is affected by HLA class I alleles together with sexually transmitted diseases.Andrology. 2019 Nov;7(6):867-877. doi: 10.1111/andr.12625. Epub 2019 Apr 19.
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Immunolocalization of TAR DNA-binding protein of 43kDa (TDP-43) in mouse seminiferous epithelium.Mol Reprod Dev. 2017 Aug;84(8):675-685. doi: 10.1002/mrd.22851. Epub 2017 Jul 18.
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Genetic variants in telomerase reverse transcriptase (TERT) and telomerase-associated protein 1 (TEP1) and the risk of male infertility.Gene. 2014 Jan 25;534(2):139-43. doi: 10.1016/j.gene.2013.11.008. Epub 2013 Nov 20.
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Association of the gonadotrophin-regulated testicular RNA helicase gene polymorphism with human male infertility.Andrologia. 2014;46(9):1063-6. doi: 10.1111/and.12185. Epub 2013 Oct 29.
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Idiopathic male infertility in the Han population in China is affected by polymorphism in the VDAC2 gene.Oncotarget. 2016 Dec 13;7(50):82594-82601. doi: 10.18632/oncotarget.12993.
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Association of the VDAC3 gene polymorphism with sperm count in Han-Chinese population with idiopathic male infertility.Oncotarget. 2017 Jul 11;8(28):45242-45248. doi: 10.18632/oncotarget.16891.
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GSTM1 and GSTT1 null polymorphisms and male infertility risk: an updated meta-analysis encompassing 6934 subjects.Sci Rep. 2013;3:2258. doi: 10.1038/srep02258.
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Oviductal extracellular vesicles (oviductosomes, OVS) are conserved in humans: murine OVS play a pivotal role in sperm capacitation and fertility.Mol Hum Reprod. 2018 Mar 1;24(3):143-157. doi: 10.1093/molehr/gay003.
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The genetic variation in monocarboxylic acid transporter 2 (MCT2) has functional and clinical relevance with male infertility.Asian J Androl. 2014 Sep-Oct;16(5):694-7. doi: 10.4103/1008-682X.124561.
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A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.Sci Rep. 2017 Oct 27;7(1):14208. doi: 10.1038/s41598-017-14606-3.
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Loss of the Na(+)/H(+) exchanger NHE8 causes male infertility in mice by disrupting acrosome formation.J Biol Chem. 2017 Jun 30;292(26):10845-10854. doi: 10.1074/jbc.M117.784108. Epub 2017 May 5.
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A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3336-41. doi: 10.1073/pnas.0611405104. Epub 2007 Feb 20.
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Association between CYP1A1 rs4646903 T > C genetic variations and male infertility risk: A meta-analysis.Medicine (Baltimore). 2019 Aug;98(31):e16543. doi: 10.1097/MD.0000000000016543.
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Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis.J Clin Endocrinol Metab. 2007 Nov;92(11):4319-26. doi: 10.1210/jc.2007-1110. Epub 2007 Aug 7.
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Glutathione-S-transferases M1/T1 gene polymorphisms and male infertility risk in Chinese populations: A meta-analysis.Medicine (Baltimore). 2019 Feb;98(6):e14166. doi: 10.1097/MD.0000000000014166.
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Glycolysis and mitochondrial respiration in mouse LDHC-null sperm.Biol Reprod. 2013 Apr 18;88(4):95. doi: 10.1095/biolreprod.113.108530. Print 2013 Apr.
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Association of N-acetyltransferase-2 and glutathione S-transferase polymorphisms with idiopathic male infertility in Vietnam male subjects.Chem Biol Interact. 2018 Apr 25;286:11-16. doi: 10.1016/j.cbi.2018.03.001. Epub 2018 Mar 2.
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Serum reproductive hormone levels and ultrasound findings in female offspring after intracytoplasmic sperm injection: first results.Fertil Steril. 2017 Apr;107(4):934-939. doi: 10.1016/j.fertnstert.2017.02.102. Epub 2017 Mar 11.
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Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
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Cryptorchidism and infertility in rats with targeted disruption of the Adamts16 locus.PLoS One. 2014 Jul 1;9(7):e100967. doi: 10.1371/journal.pone.0100967. eCollection 2014.
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Cell biology and physiology of CLC chloride channels and transporters.Compr Physiol. 2012 Jul;2(3):1701-44. doi: 10.1002/cphy.c110038.
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Accumulated HSV1-TK proteins interfere with spermatogenesis through a disruption of the integrity of Sertoli-germ cell junctions.J Reprod Dev. 2012;58(5):544-51. doi: 10.1262/jrd.2011-010. Epub 2012 Jun 14.
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gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population.Gene. 2016 Oct 30;592(1):29-35. doi: 10.1016/j.gene.2016.07.050. Epub 2016 Jul 22.
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Genetic variants in microRNA biogenesis pathway genes are associated with semen quality in a Han-Chinese population.Reprod Biomed Online. 2012 Apr;24(4):454-61. doi: 10.1016/j.rbmo.2012.01.006. Epub 2012 Jan 24.
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Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.J Biol Chem. 2018 Feb 16;293(7):2395-2407. doi: 10.1074/jbc.RA117.000861. Epub 2018 Jan 3.
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Hepatic selenoprotein P (SePP) expression restores selenium transport and prevents infertility and motor-incoordination in Sepp-knockout mice.Biochem J. 2008 Feb 1;409(3):741-9. doi: 10.1042/BJ20071172.
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The glucocorticoid-induced leucine zipper (gilz/Tsc22d3-2) gene locus plays a crucial role in male fertility.Mol Endocrinol. 2012 Jun;26(6):1000-13. doi: 10.1210/me.2011-1249. Epub 2012 May 3.
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TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages.J Clin Endocrinol Metab. 2009 Oct;94(10):4016-22. doi: 10.1210/jc.2009-1029. Epub 2009 Sep 22.
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Gq activity- and -arrestin-1 scaffolding-mediated ADGRG2/CFTR coupling are required for male fertility.Elife. 2018 Feb 2;7:e33432. doi: 10.7554/eLife.33432.
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ENU-induced mutant allele of Dnah1, ferf1, causes abnormal sperm behavior and fertilization failure in mice.Mol Reprod Dev. 2019 Apr;86(4):416-425. doi: 10.1002/mrd.23120. Epub 2019 Feb 8.
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Sperm defects in primary ciliary dyskinesia and related causes of male infertility.Cell Mol Life Sci. 2020 Jun;77(11):2029-2048. doi: 10.1007/s00018-019-03389-7. Epub 2019 Nov 28.
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Dynein axonemal intermediate chain 2 plays a role in gametogenesis by activation of Stat3.J Cell Mol Med. 2019 Jan;23(1):417-425. doi: 10.1111/jcmm.13945. Epub 2018 Nov 1.
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Association between two common transitions of H2BFWT gene and male infertility: a case-control, meta, and structural analysis.Andrology. 2018 Mar;6(2):306-316. doi: 10.1111/andr.12464. Epub 2018 Feb 17.
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Embryological Results of Couples Undergoing ICSI-ET Treatments with Males Carrying the Single Nucleotide Polymorphism rs175080 of the MLH3 Gene.Int J Mol Sci. 2017 Feb 2;18(2):314. doi: 10.3390/ijms18020314.
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Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China.J Int Med Res. 2019 Feb;47(2):992-998. doi: 10.1177/0300060518811770. Epub 2018 Nov 29.
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SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach.Int Urol Nephrol. 2007;39(4):1183-9. doi: 10.1007/s11255-006-9116-3. Epub 2007 Aug 31.
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The association of stromal antigen 3 (STAG3) sequence variations with spermatogenic impairment in the male Korean population.Asian J Androl. 2020 Jan-Feb;22(1):106-111. doi: 10.4103/aja.aja_28_19.
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Identification and characterization of the BGR-like gene with a potential role in human testicular development/spermatogenesis.Asian J Androl. 2005 Mar;7(1):21-32. doi: 10.1111/j.1745-7262.2005.00014.x.
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Acyl-CoA synthetase 6 regulates long-chain polyunsaturated fatty acid composition of membrane phospholipids in spermatids and supports normal spermatogenic processes in mice.FASEB J. 2019 Dec;33(12):14194-14203. doi: 10.1096/fj.201901074R. Epub 2019 Oct 25.
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Loss of the deglutamylase CCP5 perturbs multiple steps of spermatogenesis and leads to male infertility.J Cell Sci. 2019 Feb 7;132(3):jcs226951. doi: 10.1242/jcs.226951.
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Role of Cytosolic Carboxypeptidase 5 in Neuronal Survival and Spermatogenesis.Sci Rep. 2017 Jan 27;7:41428. doi: 10.1038/srep41428.
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Association of the human aryl hydrocarbon receptor repressor (AhRR)-c.565C>G transversion with male infertility: A case-control study from Iran.J Cell Biochem. 2019 Jun;120(6):8999-9005. doi: 10.1002/jcb.28171. Epub 2018 Dec 2.
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Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. Hum Mol Genet. 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034.
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A-kinase anchor protein 4 precursor (pro-AKAP4) in human spermatozoa.Andrology. 2018 Nov;6(6):854-859. doi: 10.1111/andr.12524. Epub 2018 Jul 8.
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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.PLoS Genet. 2019 Aug 19;15(8):e1008315. doi: 10.1371/journal.pgen.1008315. eCollection 2019 Aug.
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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. Am J Hum Genet. 2019 Feb 7;104(2):331-340. doi: 10.1016/j.ajhg.2018.12.013. Epub 2019 Jan 24.
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MiR-125b-2 Knockout in Testis Is Associated with Targeting to the PAP Gene, Mitochondrial Copy Number, and Impaired Sperm Quality.Int J Mol Sci. 2019 Jan 3;20(1):148. doi: 10.3390/ijms20010148.
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Expression of a2 vacuolar ATPase in spermatozoa is associated with semen quality and chemokine-cytokine profiles in infertile men.PLoS One. 2013 Jul 30;8(7):e70470. doi: 10.1371/journal.pone.0070470. Print 2013.
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Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes.PLoS Genet. 2013;9(12):e1003928. doi: 10.1371/journal.pgen.1003928. Epub 2013 Dec 26.
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The rs2274911 polymorphism in GPRC6A gene is associated with insulin resistance in normal weight and obese subjects.Clin Endocrinol (Oxf). 2017 Feb;86(2):185-191. doi: 10.1111/cen.13248. Epub 2016 Oct 21.
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BMP8A sustains spermatogenesis by activating both SMAD1/5/8 and SMAD2/3 in spermatogonia.Sci Signal. 2017 May 2;10(477):eaal1910. doi: 10.1126/scisignal.aal1910.
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Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. Eur J Hum Genet. 2018 Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7. Epub 2018 Mar 26.
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Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis.J Clin Endocrinol Metab. 2009 Jul;94(7):2650-7. doi: 10.1210/jc.2009-0108. Epub 2009 May 5.
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Seipin deficiency increases chromocenter fragmentation and disrupts acrosome formation leading to male infertility.Cell Death Dis. 2015 Jul 16;6(7):e1817. doi: 10.1038/cddis.2015.188.
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A nonsense mutation in Ccdc62 gene is responsible for spermiogenesis defects and male infertility in repro29/repro29 mice.Biol Reprod. 2017 Mar 1;96(3):587-597. doi: 10.1095/biolreprod.116.141408.
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Mutations of the cyclin A1 gene are not a common cause of male infertility.Syst Biol Reprod Med. 2009 Aug;55(4):125-8. doi: 10.3109/19396360902839828.
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CDC14A phosphatase is essential for hearing and male fertility in mouse and human. Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440.
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Deletion of both centrin 2 (CETN2) and CETN3 destabilizes the distal connecting cilium of mouse photoreceptors.J Biol Chem. 2019 Mar 15;294(11):3957-3973. doi: 10.1074/jbc.RA118.006371. Epub 2019 Jan 15.
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Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7.
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A novel homozygous CFAP65 mutation in humans causes male infertility with multiple morphological abnormalities of the sperm flagella.Clin Genet. 2019 Dec;96(6):541-548. doi: 10.1111/cge.13644. Epub 2019 Oct 3.
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Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse. Am J Hum Genet. 2018 Apr 5;102(4):636-648. doi: 10.1016/j.ajhg.2018.03.007.
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CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report. Hum Reprod. 2019 Oct 2;34(10):2071-2079. doi: 10.1093/humrep/dez166.
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Chloride Channel Accessory 4 (CLCA4) Gene Polymorphisms and Non-Obstructive Azoospermia: A Case-Control Study.Med Sci Monit. 2019 Mar 19;25:2043-2048. doi: 10.12659/MSM.915393.
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Qilin pills alleviate oligoasthenospermia by inhibiting Bax-caspase-9 apoptosis pathway in the testes of model rats.Oncotarget. 2018 Apr 24;9(31):21770-21782. doi: 10.18632/oncotarget.24985. eCollection 2018 Apr 24.
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Integrated Analyses of Phenotype and Quantitative Proteome of CMTM4 Deficient Mice Reveal Its Association with Male Fertility.Mol Cell Proteomics. 2019 Jun;18(6):1070-1084. doi: 10.1074/mcp.RA119.001416. Epub 2019 Mar 13.
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A single nucleotide polymorphism in a miR-1302 binding site in CGA increases the risk of idiopathic male infertility.Fertil Steril. 2011 Jul;96(1):34-39.e7. doi: 10.1016/j.fertnstert.2011.04.053. Epub 2011 May 20.
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Combinations of genetic changes in the human cAMP-responsive element modulator gene: a clue towards understanding some forms of male infertility?.Mol Hum Reprod. 2005 Aug;11(8):567-74. doi: 10.1093/molehr/gah209. Epub 2005 Sep 2.
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Fertilization defects in sperm from Cysteine-rich secretory protein 2 (Crisp2) knockout mice: implications for fertility disorders.Mol Hum Reprod. 2016 Apr;22(4):240-51. doi: 10.1093/molehr/gaw005. Epub 2016 Jan 19.
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Reduced fertility in vitro in mice lacking the cystatin CRES (cystatin-related epididymal spermatogenic): rescue by exposure of spermatozoa to dibutyryl cAMP and isobutylmethylxanthine.Biol Reprod. 2011 Jan;84(1):140-52. doi: 10.1095/biolreprod.110.084855. Epub 2010 Sep 1.
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Cstf2t Regulates expression of histones and histone-like proteins in male germ cells.Andrology. 2018 Jul;6(4):605-615. doi: 10.1111/andr.12488. Epub 2018 Apr 19.
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Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.Gene. 2015 Oct 15;571(1):9-16. doi: 10.1016/j.gene.2015.07.083. Epub 2015 Jul 30.
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Differential expression of VASA gene in ejaculated spermatozoa from normozoospermic men and patients with oligozoospermia.Asian J Androl. 2007 May;9(3):339-44. doi: 10.1111/j.1745-7262.2007.00253.x.
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The role of DEFB126 variation in male infertility and medically assisted reproduction technique outcome.Reprod Biomed Online. 2019 Oct;39(4):649-657. doi: 10.1016/j.rbmo.2019.05.012. Epub 2019 May 21.
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Developmental expression and function of DKKL1/Dkkl1 in humans and mice.Reprod Biol Endocrinol. 2012 Jul 21;10:51. doi: 10.1186/1477-7827-10-51.
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DMRT1 mutations are rarely associated with male infertility.Fertil Steril. 2014 Sep;102(3):816-820.e3. doi: 10.1016/j.fertnstert.2014.05.022. Epub 2014 Jun 14.
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DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21.
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A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.J Exp Med. 2020 Feb 3;217(2):e20182365. doi: 10.1084/jem.20182365.
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Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21.
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Transcriptomic Analysis Reveals Insights on Male Infertility in Octopus maya Under Chronic Thermal Stress.Front Physiol. 2019 Jan 15;9:1920. doi: 10.3389/fphys.2018.01920. eCollection 2018.
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Association of TUSC1 and DPF3 gene polymorphisms with male infertility.J Assist Reprod Genet. 2018 Feb;35(2):257-263. doi: 10.1007/s10815-017-1052-x. Epub 2017 Oct 3.
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