{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:21:05Z","timestamp":1790860865255,"version":"4.1.0"},"reference-count":29,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"content-version":"vor","delay-in-days":664,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","award":["2014SGR541"],"award-info":[{"award-number":["2014SGR541"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","award":["2017SGR191"],"award-info":[{"award-number":["2017SGR191"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003329","name":"Ministerio de Econom\u00eda y Competitividad","doi-asserted-by":"publisher","award":["FIS-ISCIII PI15\/0153"],"award-info":[{"award-number":["FIS-ISCIII PI15\/0153"]}],"id":[{"id":"10.13039\/501100003329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010552","name":"Departament de Salut, Generalitat de Catalunya","doi-asserted-by":"publisher","award":["CES09\/020"],"award-info":[{"award-number":["CES09\/020"]}],"id":[{"id":"10.13039\/501100010552","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004895","name":"European Social Fund","doi-asserted-by":"publisher","award":["UID\/BIM\/00009\/2013"],"award-info":[{"award-number":["UID\/BIM\/00009\/2013"]}],"id":[{"id":"10.13039\/501100004895","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009091","name":"Fundaci\u00f3 Catalana de Trasplantament","doi-asserted-by":"publisher","award":["SFRH\/BPD\/120777\/2016"],"award-info":[{"award-number":["SFRH\/BPD\/120777\/2016"]}],"id":[{"id":"10.13039\/501100009091","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009091","name":"Fundaci\u00f3 Catalana de Trasplantament","doi-asserted-by":"publisher","award":["IF\/01262\/2014"],"award-info":[{"award-number":["IF\/01262\/2014"]}],"id":[{"id":"10.13039\/501100009091","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017642","name":"Spanish National Plan for Scientific and Technical Research and Innovation","doi-asserted-by":"publisher","award":["RYC-2014-16458"],"award-info":[{"award-number":["RYC-2014-16458"]}],"id":[{"id":"10.13039\/501100017642","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017642","name":"Spanish National Plan for Scientific and Technical Research and Innovation","doi-asserted-by":"publisher","award":["SAF2016-78722-R"],"award-info":[{"award-number":["SAF2016-78722-R"]}],"id":[{"id":"10.13039\/501100017642","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","fertstert.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Fertility and Sterility"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1016\/j.fertnstert.2020.02.115","type":"journal-article","created":{"date-parts":[[2020,7,18]],"date-time":"2020-07-18T01:37:08Z","timestamp":1595036228000},"page":"398-406","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment"],"prefix":"10.1016","volume":"114","author":[{"given":"Miriam","family":"Cerv\u00e1n-Mart\u00edn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Irene","family":"Suazo-S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roc\u00edo","family":"Rivera-Egea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol\u00e1s","family":"Garrido","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saturnino","family":"Luj\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6365-1087","authenticated-orcid":false,"given":"Gema","family":"Romeu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2476-7858","authenticated-orcid":false,"given":"Samuel","family":"Santos-Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 A.","family":"Castilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Carmen","family":"Gonzalvo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Clavero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. Javier","family":"Vicente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4456-7191","authenticated-orcid":false,"given":"Vicente","family":"Maldonado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Burgos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco J.","family":"Barrionuevo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josvany","family":"S\u00e1nchez-Curbelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"L\u00f3pez-Rodrigo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Fernanda","family":"Peraza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Pereira-Caetano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia I.","family":"Marques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipa","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Barros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Llu\u00eds","family":"Bassas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Seixas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o","family":"Gon\u00e7alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Larriba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra M.","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rogelio J.","family":"Palomino-Morales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. David","family":"Carmona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Calhaz-Jorge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Aguiar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joaquim","family":"Nunes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Gra\u00e7a Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00f3nia","family":"Correia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Pacheco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Amor\u00f3s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas","family":"Aguilar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Quintana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.fertnstert.2020.02.115_bib1","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/S2213-8587(16)30040-7","article-title":"Novel concepts in the aetiology of male reproductive impairment","volume":"5","author":"Tournaye","year":"2017","journal-title":"Lancet Diabetes Endocrinol"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib2","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/s41585-018-0003-3","article-title":"Genetics of male infertility","volume":"15","author":"Krausz","year":"2018","journal-title":"Nat Rev Urol"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib3","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1093\/humrep\/dez022","article-title":"A systematic review and standardized clinical validity assessment of male infertility genes","volume":"34","author":"Oud","year":"2019","journal-title":"Hum Reprod"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib4","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ejogrb.2014.11.003","article-title":"Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population","volume":"184","author":"Song","year":"2015","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib5","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1016\/j.modgep.2006.04.007","article-title":"Sohlh2 is a germ cell-specific bHLH transcription factor","volume":"6","author":"Ballow","year":"2006","journal-title":"Gene Expr Patterns"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib6","doi-asserted-by":"crossref","first-page":"1587","DOI":"10.1634\/stemcells.2007-0502","article-title":"Sohlh2 knockout mice are male-sterile because of degeneration of differentiating type A spermatogonia","volume":"26","author":"Hao","year":"2008","journal-title":"Stem Cells"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib7","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.ydbio.2011.10.027","article-title":"SOHLH1 and SOHLH2 coordinate spermatogonial differentiation","volume":"361","author":"Suzuki","year":"2012","journal-title":"Dev Biol"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib8","first-page":"1455","article-title":"SOHLH1 and SOHLH2 control Kit expression during postnatal male germ cell development","volume":"125","author":"Barrios","year":"2012","journal-title":"J Cell Sci"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib9","article-title":"Immunohistochemical study of expression of Sohlh1 and Sohlh2 in normal adult human tissues","volume":"10","author":"Zhang","year":"2015","journal-title":"PloS One"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib10","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1093\/humupd\/dmp048","article-title":"World Health Organization reference values for human semen characteristics","volume":"16","author":"Cooper","year":"2010","journal-title":"Hum Reprod Update"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib11","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib12","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/ng1706","article-title":"Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies","volume":"38","author":"Skol","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib13","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"GigaScience"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib14","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"J R Stat Soc Series B (Methodological)"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib15","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The Genotype-Tissue Expression (GTEx) project","volume":"45","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib16","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1101\/gr.137323.112","article-title":"Annotation of functional variation in personal genomes using RegulomeDB","volume":"22","author":"Boyle","year":"2012","journal-title":"Genome Res"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib17","doi-asserted-by":"crossref","first-page":"D877","DOI":"10.1093\/nar\/gkv1340","article-title":"HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease","volume":"44","author":"Ward","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib18","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1093\/bioinformatics\/btv402","article-title":"LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants","volume":"31","author":"Machiela","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib19","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl Variant Effect Predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib20","doi-asserted-by":"crossref","first-page":"D267","DOI":"10.1093\/nar\/gkx1092","article-title":"ReMap 2018: an updated atlas of regulatory regions from an integrative analysis of DNA-binding ChIP-seq experiments","volume":"46","author":"Cheneby","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib21","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.ydbio.2008.10.019","article-title":"Sohlh2 affects differentiation of KIT positive oocytes and spermatogonia","volume":"325","author":"Toyoda","year":"2009","journal-title":"Dev Biol"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib22","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1002\/humu.21264","article-title":"Mutations in SOHLH1 gene associate with nonobstructive azoospermia","volume":"31","author":"Choi","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib23","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ydbio.2006.02.027","article-title":"Sohlh1 is essential for spermatogonial differentiation","volume":"294","author":"Ballow","year":"2006","journal-title":"Dev Biol"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib24","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0101681","article-title":"Auto-regulation of the Sohlh1 gene by the SOHLH2\/SOHLH1\/SP1 complex: implications for early spermatogenesis and oogenesis","volume":"9","author":"Toyoda","year":"2014","journal-title":"PloS One"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib25","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.tig.2008.01.008","article-title":"The functional consequences of alternative promoter use in mammalian genomes","volume":"24","author":"Davuluri","year":"2008","journal-title":"Trends Genetics"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib26","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1007\/s00709-016-1071-y","article-title":"Alternative intronic promoters in development and disease","volume":"254","author":"Vacik","year":"2017","journal-title":"Protoplasma"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib27","doi-asserted-by":"crossref","first-page":"4134","DOI":"10.1073\/pnas.1513682113","article-title":"Major spliceosome defects cause male infertility and are associated with nonobstructive azoospermia in humans","volume":"113","author":"Wu","year":"2016","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib28","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1056\/NEJMoa1406192","article-title":"X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men","volume":"372","author":"Yatsenko","year":"2015","journal-title":"N Engl J Med"},{"key":"10.1016\/j.fertnstert.2020.02.115_bib29","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1093\/humrep\/dev139","article-title":"How successful is TESE-ICSI in couples with non-obstructive azoospermia?","volume":"30","author":"Vloeberghs","year":"2015","journal-title":"Hum Reprod"}],"container-title":["Fertility and Sterility"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0015028220302478?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0015028220302478?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T21:54:50Z","timestamp":1777413290000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0015028220302478"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["S0015028220302478"],"URL":"https:\/\/doi.org\/10.1016\/j.fertnstert.2020.02.115","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.738365820.793594916","asserted-by":"object"}]},"ISSN":["0015-0282"],"issn-type":[{"value":"0015-0282","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment","name":"articletitle","label":"Article Title"},{"value":"Fertility and Sterility","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.fertnstert.2020.02.115","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a92020 American Society for Reproductive Medicine, Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}