| H01282 | |
| H番号 | H01282 |
| 名称 | 精子形成異常 |
| 概要 | Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 genes play a role in spermatogenesis. |
| カテゴリ | 生殖器系疾患 |
| ネットワーク | nt06530(H01282) PI3K signaling |
| 病因遺伝子 | (SPGF1) SYCP2 [HSA:10388] [KO:K19529] (SPGF3) SLC26A8 [HSA:116369] [KO:K14705] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (SPGF5) AURKC [HSA:6795] [KO:K11480] (SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF7) CATSPER1 [HSA:117144] [KO:K16889] (SPGF8) NR5A1 [HSA:2516] [KO:K08560] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF10) SEPTIN12 [HSA:124404] [KO:K16938] (SPGF11) KLHL10 [HSA:317719] [KO:K10448] (SPGF12) NANOS1 [HSA:340719] [KO:K18741] (SPGF13) TAF4B [HSA:6875] [KO:K03129] (SPGF14) ZMYND15 [HSA:84225] [KO:K24081] (SPGF15) SYCE1 [HSA:93426] [KO:K19534] (SPGF16) SUN5 [HSA:140732] [KO:K21876] (SPGF17) PLCZ1 [HSA:89869] [KO:K05861] (SPGF18) DNAH1 [HSA:25981] [KO:K10408] (SPGF19) CFAP43 [HSA:80217] [KO:K24223] (SPGF20) CFAP44 [HSA:55779] [KO:K24224] (SPGF21) BRDT [HSA:676] [KO:K11724] (SPGF22) MEIOB [HSA:254528] [KO:K22420] (SPGF23) TEX14 [HSA:56155] [KO:K17540] (SPGF24) CFAP69 [HSA:79846] [KO:K24227] (SPGF25) TEX15 [HSA:56154] [KO:K25680] (SPGF26) TSGA10 [HSA:80705] [KO:K25632] (SPGF27) AK7 [HSA:122481] [KO:K00939] (SPGF28) FANCM [HSA:57697] [KO:K10896] (SPGF29) SPINK2 [HSA:6691] [KO:K23418] (SPGF30) TDRD9 [HSA:122402] [KO:K18408] (SPGF31) PMFBP1 [HSA:83449] [KO:K23223] (SPGF32) SOHLH1 [HSA:402381] [KO:K22495] (SPGF33) CFAP251 [HSA:144406] [KO:K24228] (SPGF34) FSIP2 [HSA:401024] [KO:K26675] (SPGF35) QRICH2 [HSA:84074] [KO:K24298] (SPGF36) PPP2R3C [HSA:55012] [KO:K11583] (SPGF37) TTC21A [HSA:199223] [KO:K24178] (SPGF38) ARMC2 [HSA:84071] [KO:K24123] (SPGF39) DNAH17 [HSA:8632] [KO:K10408] (SPGF40) CFAP65 [HSA:255101] [KO:K24226] (SPGF41) CFAP70 [HSA:118491] [KO:K24932] (SPGF42) TTC29 [HSA:83894] [KO:K24937] (SPGF43) SPEF2 [HSA:79925] [KO:K25615] (SPGF44) CEP112 [HSA:201134] [KO:K16767] (SPGF45) DNAH2 [HSA:146754] [KO:K10408] (SPGF46) DNAH8 [HSA:1769] [KO:K10408] (SPGF47) DZIP1 [HSA:22873] [KO:K16470] (SPGF48) M1AP [HSA:130951] [KO:K26106] (SPGF49) CFAP58 [HSA:159686] [KO:K25554] (SPGF50) XRCC2 [HSA:7516] [KO:K10879] (SPGF51) CFAP91 [HSA:89876] [KO:K25461] (SPGF52) C14orf39 [HSA:317761] [KO:K25705] (SPGF53) ACTL9 [HSA:284382] (SPGF54) CATIP [HSA:375307] [KO:K25788] (SPGF55) SPAG17 [HSA:200162] [KO:K25533] (SPGF56) DNAH10 [HSA:196385] [KO:K10408] (SPGF57) PNLDC1 [HSA:154197] [KO:K01148] (SPGF58) IFT74 [HSA:80173] [KO:K19679] (SPGF59) TERB2 [HSA:145645] [KO:K25750] (SPGF60) TERB1 [HSA:283847] [KO:K25749] (SPGF61) STAG3 [HSA:10734] [KO:K13055] (SPGF62) RNF212 [HSA:285498] [KO:K25662] (SPGF63) RPL10L [HSA:140801] [KO:K02866] (SPGF64) FBXO43 [HSA:286151] [KO:K10318] (SPGF65) DNHD1 [HSA:144132] [KO:K26555] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] (SPGF70) PDHA2 [HSA:5161] [KO:K00161] (SPGF71) ZSWIM7 [HSA:125150] [KO:K25770] (SPGF72) WDR19 [HSA:57728] [KO:K19671] (SPGF73) MOV10L1 [HSA:54456] [KO:K13983] (SPGF74) MSH5 [HSA:4439] [KO:K08741] (SPGF75) SHOC1 [HSA:158401] (SPGF76) CCDC34 [HSA:91057] [KO:K16753] (SPGF77) FKBP6 [HSA:8468] [KO:K09572] (SPGF78) IQCN [HSA:80726] [KO:K26737] (SPGF79) KCNU1 [HSA:157855] [KO:K05274] (SPGF80) DRC1 [HSA:92749] [KO:K19754] (SPGF81) TEKT3 [HSA:64518] [KO:K18630] (SPGF82) AKAP3 [HSA:10566] [KO:K16520] (SPGF83) DNALI1 [HSA:7802] [KO:K10410] (SPGF84) CFAP61 [HSA:26074] [KO:K25460] (SPGFX2) TEX11 [HSA:56159] [KO:K24574] (SPGFX3) CFAP47 [HSA:286464] [KO:K25552] (SPGFX4) GCNA [HSA:93953] (SPGFX5) SSX1 [HSA:6756] [KO:K15624] (SPGFX6) USP26 [HSA:83844] [KO:K11850] (SPGFX7) CT55 [HSA:54967] [KO:K25478] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | クロミフェンクエン酸塩 [DR:D00962] |
| コメント | - |
| リンク | ICD-11: GB04.Y ICD-10: N46 MeSH: C567832 C564030 OMIM: 258150 606766 270960 243060 102530 612997 613957 613958 614822 615081 615413 615841 615842 616950 617187 617214 617576 617592 617593 617644 617706 617707 617959 617960 617961 617965 618086 618091 618110 618112 618115 618152 618153 618341 618420 618429 618433 618643 618664 618670 618745 618751 619044 619094 619095 619102 619108 619144 619145 619177 619202 619258 619379 619380 619515 619528 619585 619645 619646 619672 619673 619689 619696 619712 619799 619803 619805 619826 619828 619831 619867 619878 619937 619949 620084 620103 620170 620196 620222 620277 620353 620354 620409 309120 301059 301077 301099 301101 301106 |
| 文献 | PMID:22138898 著者 Massart A, Lissens W, Tournaye H, Stouffs K タイトル Genetic causes of spermatogenic failure. 雑誌 Asian J Androl 14:40-8 (2012) DOI:10.1038/aja.2011.67 PMID:31866047 (SPGF1) 著者 Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tuttelmann F, MacQueen AJ, Morton CC タイトル SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. 雑誌 Am J Hum Genet 106:41-57 (2020) DOI:10.1016/j.ajhg.2019.11.013 PMID:23582645 (SPGF3) 著者 Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dulioust E, Gacon G, Bienvenu T, Toure A タイトル Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. 雑誌 Am J Hum Genet 92:760-6 (2013) DOI:10.1016/j.ajhg.2013.03.016 PMID:14643120 (SPGF4) 著者 Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ タイトル Azoospermia in patients heterozygous for a mutation in SYCP3. 雑誌 Lancet 362:1714-9 (2003) DOI:10.1016/S0140-6736(03)14845-3 PMID:21733974 (SPGF5) 著者 Ben Khelifa M, Zouari R, Harbuz R, Halouani L, Arnoult C, Lunardi J, Ray PF タイトル A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis. 雑誌 Mol Hum Reprod 17:762-8 (2011) DOI:10.1093/molehr/gar050 PMID:17847006 (SPGF6) 著者 Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, Tournaye H, Charlet N, Lagier-Tourenne C, van Bokhoven H, Viville S タイトル Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. 雑誌 Am J Hum Genet 81:813-20 (2007) DOI:10.1086/521314 PMID:19344877 (SPGF7) 著者 Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ タイトル Human male infertility caused by mutations in the CATSPER1 channel protein. 雑誌 Am J Hum Genet 84:505-10 (2009) DOI:10.1016/j.ajhg.2009.03.004 PMID:20887963 (SPGF8) 著者 Bashamboo A, Ferraz-de-Souza B, Lourenco D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K タイトル Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. 雑誌 Am J Hum Genet 87:505-12 (2010) DOI:10.1016/j.ajhg.2010.09.009 PMID:21397063 (SPGF9) 著者 Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Kilani Z, Barratt CL, Viville S タイトル DPY19L2 deletion as a major cause of globozoospermia. 雑誌 Am J Hum Genet 88:344-50 (2011) DOI:10.1016/j.ajhg.2011.01.018 PMID:22275165 (SPGF10) 著者 Kuo YC, Lin YH, Chen HI, Wang YY, Chiou YW, Lin HH, Pan HA, Wu CM, Su SM, Hsu CC, Kuo PL タイトル SEPT12 mutations cause male infertility with defective sperm annulus. 雑誌 Hum Mutat 33:710-9 (2012) DOI:10.1002/humu.22028 PMID:17047026 (SPGF11) 著者 Yatsenko AN, Roy A, Chen R, Ma L, Murthy LJ, Yan W, Lamb DJ, Matzuk MM タイトル Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. 雑誌 Hum Mol Genet 15:3411-9 (2006) DOI:10.1093/hmg/ddl417 PMID:23315541 (SPGF12) 著者 Kusz-Zamelczyk K, Sajek M, Spik A, Glazar R, Jedrzejczak P, Latos-Bielenska A, Kotecki M, Pawelczyk L, Jaruzelska J タイトル Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia. 雑誌 J Med Genet 50:187-93 (2013) DOI:10.1136/jmedgenet-2012-101230 PMID:24431330 (SPGF13_14) 著者 Ayhan O, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A タイトル Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. 雑誌 J Med Genet 51:239-44 (2014) DOI:10.1136/jmedgenet-2013-102102 PMID:25899990 (SPGF15) 著者 Maor-Sagie E, Cinnamon Y, Yaacov B, Shaag A, Goldsmidt H, Zenvirt S, Laufer N, Richler C, Frumkin A タイトル Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia. 雑誌 J Assist Reprod Genet 32:887-91 (2015) DOI:10.1007/s10815-015-0445-y PMID:27640305 (SPGF16) 著者 Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, Zhang Z, He X, Zhou P, Wei Z, Gecz J, Cao Y タイトル Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. 雑誌 Am J Hum Genet 99:942-949 (2016) DOI:10.1016/j.ajhg.2016.08.004 PMID:26721930 (SPGF17) 著者 Escoffier J, Lee HC, Yassine S, Zouari R, Martinez G, Karaouzene T, Coutton C, Kherraf ZE, Halouani L, Triki C, Nef S, Thierry-Mieg N, Savinov SN, Fissore R, Ray PF, Arnoult C タイトル Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. 雑誌 Hum Mol Genet 25:878-91 (2016) DOI:10.1093/hmg/ddv617 PMID:27798045 (SPGF18) 著者 Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzene T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH, Bahrami S, Daneshipour A, Bini M, Arnoult C, Colombo R, Gourabi H, Ray PF タイトル Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. 雑誌 Hum Reprod 31:2872-2880 (2016) DOI:10.1093/humrep/dew262 PMID:28552195 (SPGF19_20_40) 著者 Tang S, Wang X, Li W, Yang X, Li Z, Liu W, Li C, Zhu Z, Wang L, Wang J, Zhang L, Sun X, Zhi E, Wang H, Li H, Jin L, Luo Y, Wang J, Yang S, Zhang F タイトル Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. 雑誌 Am J Hum Genet 100:854-864 (2017) DOI:10.1016/j.ajhg.2017.04.012 PMID:28199965 (SPGF21) 著者 Li L, Sha Y, Wang X, Li P, Wang J, Kee K, Wang B タイトル Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa. 雑誌 Oncotarget 8:19914-19922 (2017) DOI:10.18632/oncotarget.15251 PMID:28206990 (SPGF22_23) 著者 Gershoni M, Hauser R, Yogev L, Lehavi O, Azem F, Yavetz H, Pietrokovski S, Kleiman SE タイトル A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. 雑誌 Genet Med 19:998-1006 (2017) DOI:10.1038/gim.2016.225 PMID:29606301 (SPGF24) 著者 Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lores P, Karaouzene T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Toure A, Ray PF, Zhao H, Coutton C タイトル Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse. 雑誌 Am J Hum Genet 102:636-648 (2018) DOI:10.1016/j.ajhg.2018.03.007 PMID:26199321 (SPGF25) 著者 Okutman O, Muller J, Baert Y, Serdarogullari M, Gultomruk M, Piton A, Rombaut C, Benkhalifa M, Teletin M, Skory V, Bakircioglu E, Goossens E, Bahceci M, Viville S タイトル Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. 雑誌 Hum Mol Genet 24:5581-8 (2015) DOI:10.1093/hmg/ddv290 PMID:28905369 (SPGF26) 著者 Sha YW, Sha YK, Ji ZY, Mei LB, Ding L, Zhang Q, Qiu PP, Lin SB, Wang X, Li P, Xu X, Li L タイトル TSGA10 is a novel candidate gene associated with acephalic spermatozoa. 雑誌 Clin Genet 93:776-783 (2018) DOI:10.1111/cge.13140 PMID:29365104 (SPGF27) 著者 Lores P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Toure A タイトル 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. 雑誌 Hum Mol Genet 27:1196-1211 (2018) DOI:10.1093/hmg/ddy034 PMID:30075111 (SPGF28) 著者 Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB, Conrad DF, Laan M タイトル Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. 雑誌 Am J Hum Genet 103:200-212 (2018) DOI:10.1016/j.ajhg.2018.07.005 PMID:28554943 (SPGF29) 著者 Kherraf ZE, Christou-Kent M, Karaouzene T, Amiri-Yekta A, Martinez G, Vargas AS, Lambert E, Borel C, Dorphin B, Aknin-Seifer I, Mitchell MJ, Metzler-Guillemain C, Escoffier J, Nef S, Grepillat M, Thierry-Mieg N, Satre V, Bailly M, Boitrelle F, Pernet-Gallay K, Hennebicq S, Faure J, Bottari SP, Coutton C, Ray PF, Arnoult C タイトル SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes. 雑誌 EMBO Mol Med 9:1132-1149 (2017) DOI:10.15252/emmm.201607461 PMID:28536242 (SPGF30) 著者 Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, Dyomin V, Sheffield VC, Lunenfeld E, Huleihel M, Parvari R タイトル Mutation in TDRD9 causes non-obstructive azoospermia in infertile men. 雑誌 J Med Genet 54:633-639 (2017) DOI:10.1136/jmedgenet-2017-104514 PMID:30032984 (SPGF31) 著者 Zhu F, Liu C, Wang F, Yang X, Zhang J, Wu H, Zhang Z, He X, Zhang Z, Zhou P, Wei Z, Shang Y, Wang L, Zhang R, Ouyang YC, Sun QY, Cao Y, Li W タイトル Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. 雑誌 Am J Hum Genet 103:188-199 (2018) DOI:10.1016/j.ajhg.2018.06.010 PMID:20506135 (SPGF32) 著者 Choi Y, Jeon S, Choi M, Lee MH, Park M, Lee DR, Jun KY, Kwon Y, Lee OH, Song SH, Kim JY, Lee KA, Yoon TK, Rajkovic A, Shim SH タイトル Mutations in SOHLH1 gene associate with nonobstructive azoospermia. 雑誌 Hum Mutat 31:788-93 (2010) DOI:10.1002/humu.21264 PMID:30122540 (SPGF33) 著者 Kherraf ZE, Amiri-Yekta A, Dacheux D, Karaouzene T, Coutton C, Christou-Kent M, Martinez G, Landrein N, Le Tanno P, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Gourabi H, Robinson DR, Crouzy S, Blum M, Thierry-Mieg N, Toure A, Zouari R, Arnoult C, Bonhivers M, Ray PF タイトル A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility. 雑誌 Am J Hum Genet 103:400-412 (2018) DOI:10.1016/j.ajhg.2018.07.014 PMID:30137358 (SPGF34) 著者 Martinez G, Kherraf ZE, Zouari R, Fourati Ben Mustapha S, Saut A, Pernet-Gallay K, Bertrand A, Bidart M, Hograindleur JP, Amiri-Yekta A, Kharouf M, Karaouzene T, Thierry-Mieg N, Dacheux-Deschamps D, Satre V, Bonhivers M, Toure A, Arnoult C, Ray PF, Coutton C タイトル Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella. 雑誌 Hum Reprod 33:1973-1984 (2018) DOI:10.1093/humrep/dey264 PMID:30683861 (SPGF35) 著者 Shen Y, Zhang F, Li F, Jiang X, Yang Y, Li X, Li W, Wang X, Cheng J, Liu M, Zhang X, Yuan G, Pei X, Cai K, Hu F, Sun J, Yan L, Tang L, Jiang C, Tu W, Xu J, Wu H, Kong W, Li S, Wang K, Sheng K, Zhao X, Yue H, Yang X, Xu W タイトル Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. 雑誌 Nat Commun 10:433 (2019) DOI:10.1038/s41467-018-08182-x PMID:30893644 (SPGF36) 著者 Guran T, Yesil G, Turan S, Atay Z, Bozkurtlar E, Aghayev A, Gul S, Tinay I, Aru B, Arslan S, Koroglu MK, Ercan F, Demirel GY, Eren FS, Karademir B, Bereket A タイトル PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. 雑誌 Eur J Endocrinol 180:291-309 (2019) DOI:10.1530/EJE-19-0067 PMID:30929735 (SPGF37) 著者 Liu W, He X, Yang S, Zouari R, Wang J, Wu H, Kherraf ZE, Liu C, Coutton C, Zhao R, Tang D, Tang S, Lv M, Fang Y, Li W, Li H, Zhao J, Wang X, Zhao S, Zhang J, Arnoult C, Jin L, Zhang Z, Ray PF, Cao Y, Zhang F タイトル Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice. 雑誌 Am J Hum Genet 104:738-748 (2019) DOI:10.1016/j.ajhg.2019.02.020 PMID:30686508 (SPGF38) 著者 Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Toure A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF タイトル Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 雑誌 Am J Hum Genet 104:331-340 (2019) DOI:10.1016/j.ajhg.2018.12.013 PMID:31178125 (SPGF39) 著者 Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Toure A, Legendre M タイトル Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. 雑誌 Am J Hum Genet 105:198-212 (2019) DOI:10.1016/j.ajhg.2019.04.015 PMID:31621862 (SPGF41) 著者 Beurois J, Martinez G, Cazin C, Kherraf ZE, Amiri-Yekta A, Thierry-Mieg N, Bidart M, Petre G, Satre V, Brouillet S, Toure A, Arnoult C, Ray PF, Coutton C タイトル CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. 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