{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T19:26:17Z","timestamp":1793042777494,"version":"4.5.0"},"reference-count":23,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5073","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1992,8,21]]},"abstract":"<jats:p>\n            A point mutation in the POU-specific portion of the human gene that encodes the tissue-specific POU-domain transcription factor, Pit-1, results in hypopituitarism, with deficiencies of growth hormone, prolactin, and thyroid-stimulating hormone. In two unrelated Dutch families, a mutation in Pit-1 that altered an alanine in the first putative \u03b1 helix of the POU-specific domain to proline was observed. This mutation generated a protein capable of binding to DNA response elements but unable to effectively activate its known target genes, growth hormone and prolactin. The phenotype of the affected individuals suggests that the mutant Pit-1 protein is competent to initiate other programs of gene activation required for normal proliferation of somatotrope, lactotrope, and thyrotrope cell types. Thus, a mutation in the POU-specific domain of Pit-1 has a selective effect on a subset of\n            <jats:italic>Pit-1<\/jats:italic>\n            target genes.\n          <\/jats:p>","DOI":"10.1126\/science.257.5073.1118","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T23:03:06Z","timestamp":1160089386000},"page":"1118-1121","source":"Crossref","is-referenced-by-count":329,"title":["Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia"],"prefix":"10.1126","volume":"257","author":[{"given":"R. W.","family":"Pf\u00e4ffle","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. E.","family":"DiMattia","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. S.","family":"Parks","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. R.","family":"Brown","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, Emory University School of Medicine, 2040 Ridgewood Drive, Atlanta, GA 30322"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. M.","family":"Wit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Van der Nat","sequence":"additional","affiliation":[{"name":"Laboratory for Virology, National Institutes of Public Health and Environmental Protection, Bilthoven, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L.","family":"Van den Brande","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. G.","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. A.","family":"Ingraham","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","unstructured":"Asa S. L. Abstracts. 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