{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:36:32Z","timestamp":1791326192152,"version":"4.3.1"},"reference-count":31,"publisher":"National Academy of Sciences","issue":"4","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2011,1,25]]},"abstract":"<jats:p>\n                    Approximately 1 of every 250 newborns has some abnormality of genital and\/or gonadal development. However, a specific molecular cause is identified in only 20% of these cases of disorder of sex development (DSD). We identified a family of French origin presenting with 46,XY DSD and congenital heart disease. Sequencing of the ORF of\n                    <jats:italic>GATA4<\/jats:italic>\n                    identified a heterozygous missense mutation (p.Gly221Arg) in the conserved N-terminal zinc finger of GATA4. This mutation was not observed in 450 ancestry-matched control individuals. The mutation compromised the ability of the protein to bind to and transactivate the anti-M\u00fcllerian hormone (\n                    <jats:italic>AMH<\/jats:italic>\n                    ) promoter. The mutation does not interfere with the direct protein\u2013protein interaction, but it disrupts synergistic activation of the\n                    <jats:italic>AMH<\/jats:italic>\n                    promoter by GATA4 and NR5A1. The p.Gly221Arg mutant protein also failed to bind to a known protein partner FOG2 that is essential for gonad formation. Our data demonstrate the key role of GATA4 in human testicular development.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1010257108","type":"journal-article","created":{"date-parts":[[2011,1,10]],"date-time":"2011-01-10T23:55:41Z","timestamp":1294703741000},"page":"1597-1602","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":151,"title":["Loss-of-function mutation in\n                    <i>GATA4<\/i>\n                    causes anomalies of human testicular development"],"prefix":"10.1073","volume":"108","author":[{"given":"Diana","family":"Louren\u00e7o","sequence":"first","affiliation":[{"name":"Human Developmental Genetics, Institut Pasteur, 75724 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raja","family":"Brauner","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine and Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris Descartes, Unit\u00e9 d'Endocrinologie P\u00e9diatrique, H\u00f4pital Bic\u00eatre, 94275 Le Kremlin Bic\u00eatre, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magda","family":"Rybczy\u0144ska","sequence":"additional","affiliation":[{"name":"Human Developmental Genetics, Institut Pasteur, 75724 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Nihoul-F\u00e9k\u00e9t\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine and Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris Descartes, H\u00f4pital Necker-Enfants Malades, Service de Chirurgie Visc\u00e9rale P\u00e9diatrique, 75743 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"McElreavey","sequence":"additional","affiliation":[{"name":"Human Developmental Genetics, Institut Pasteur, 75724 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu","family":"Bashamboo","sequence":"additional","affiliation":[{"name":"Human Developmental Genetics, Institut Pasteur, 75724 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2011,1,10]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpurol.2006.03.004"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(89)90940-9"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R000029200"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.14.2665"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1210\/me.2007-0513"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1210\/en.2007-1265"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2199-9-44"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.8.1048"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.8.1061"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30684"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9410"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052183"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0701677104"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.875201"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.19.4627"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00752.x"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1210\/mend.15.9.0692"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1709303"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90211-9"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1159\/000152036"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-09-0067"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0806228"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M305485200"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1677\/JME-08-0089"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1159\/000314917"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1086\/302330"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.18.11.6653"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.10.20.2577"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2007.06.004"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1677\/JME-09-0030"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.1010257108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T19:43:47Z","timestamp":1649792627000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.1010257108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1,10]]},"references-count":31,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,1,25]]}},"alternative-id":["10.1073\/pnas.1010257108"],"URL":"https:\/\/doi.org\/10.1073\/pnas.1010257108","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1,10]]},"assertion":[{"value":"2011-01-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}