{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T00:28:56Z","timestamp":1775694536744,"version":"3.50.1"},"reference-count":43,"publisher":"Georg Thieme Verlag KG","issue":"07","license":[{"start":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T00:00:00Z","timestamp":1626134400000},"content-version":"vor","delay-in-days":12,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"crossref","award":["EG110\/15-1"],"award-info":[{"award-number":["EG110\/15-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Geburtshilfe Frauenheilkd"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genetic alterations significantly contribute to the aetiology of reproductive failure and\n      comprise monogenic, chromosomal and epigenetic disturbances. The implementation of\n      next-generation sequencing (NGS) based approaches in research and diagnostics allows the\n      comprehensive analysis of these genetic causes, and the increasing detection rates of genetic\n      mutations causing reproductive complications confirm the potential of the new techniques.\n      Whereas mutations affecting the fetal genome are well known to affect pregnancies and their\n      outcome, the contribution of alterations of the maternal genome was widely unclear. With the\n      recent mainly NGS-based identification of maternal effect variants, a new cause of human\n      reproductive failure has been identified. Maternal effect mutations affect the expression of\n      subcortical maternal complex (SCMC) proteins from the maternal genome, and thereby disturb\n      oocyte maturation and progression of the early embryo. They cause a broad range of\n      reproductive failures and pregnancy complications, including infertility, miscarriages,\n      hydatidiform moles, aneuploidies and imprinting disturbances in the fetus. The identification\n      of women carrying these molecular alterations in SCMC encoding genes is therefore essential\n      for a personalised reproductive and genetic counselling. The diagnostic application of new\n      NGS-based assays allows the comprehensive analysis of these factors, and helps to further\n      decipher these functional links between the factors and their disturbances. A close\n      interdisciplinary collaboration between different disciplines is definitely required to\n      further decipher the complex regulation of early embryo development, and to translate the\n      basic research results into clinical practice.<\/jats:p>","DOI":"10.1055\/a-1396-4390","type":"journal-article","created":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T22:36:22Z","timestamp":1626215782000},"page":"780-788","source":"Crossref","is-referenced-by-count":10,"title":["Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure"],"prefix":"10.1055","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8419-0264","authenticated-orcid":false,"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, RWTH Aachen University, Aachen, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,7,13]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/S0015-0282(16)46579-9","article-title":"Early embryonic mortality in women","volume":"38","author":"DK Edmonds","year":"1982","journal-title":"Fertil Steril"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1093\/humupd\/7.2.113","article-title":"Human reproductive failure I: immunological factors","volume":"7","author":"SR Choudhury","year":"2001","journal-title":"Hum Reprod Update"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1038\/s41585-018-0003-3","article-title":"Genetics of male infertility","volume":"15","author":"C Krausz","year":"2018","journal-title":"Nat Rev Urol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1093\/biolre\/ioz084","article-title":"Genetics of human female infertility\u2020","volume":"101","author":"SA Yatsenko","year":"2019","journal-title":"Biol Reprod"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1007\/s00439-020-02202-x","article-title":"Disease gene discovery in male infertility: past, present and future","volume":"140","author":"MJ Xavier","year":"2021","journal-title":"Hum Genet"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"1539","DOI":"10.1007\/s10815-019-01499-6","article-title":"Genetic diagnosis in first or second trimester pregnancy loss using exome\n          sequencing: a systematic review of human essential genes","volume":"36","author":"SM Robbins","year":"2019","journal-title":"J Assist Reprod Genet"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1097\/GCO.0000000000000647","article-title":"A new algorithm for the evaluation of recurrent pregnancy loss redefining\n          unexplained miscarriage: review of current guidelines","volume":"32","author":"RS Papas","year":"2020","journal-title":"Curr Opin Obstet Gynecol"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1055\/a-0586-4568","article-title":"Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. 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