{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:11:03Z","timestamp":1787015463171,"version":"build-2736575974"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,11,25]],"date-time":"2016-11-25T00:00:00Z","timestamp":1480032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004374","name":"Chongqing Medical University","doi-asserted-by":"publisher","award":["YJYJ201347"],"award-info":[{"award-number":["YJYJ201347"]}],"id":[{"id":"10.13039\/501100004374","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    p53\u2010Transcriptional\u2010regulated proteins interact with a large number of other signal transduction pathways in the cell, and a number of positive and negative autoregulatory feedback loops act upon the p53 response. P53 directly controls the\n                    <jats:styled-content style=\"fixed-case\">POMC<\/jats:styled-content>\n                    \/\u03b1\u2010\n                    <jats:styled-content style=\"fixed-case\">MSH<\/jats:styled-content>\n                    productions induced by ultraviolet (\n                    <jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content>\n                    ) and is associated with\n                    <jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content>\n                    \u2010independent pathological pigmentation. When identifying the causative gene of dyschromatosis universalis hereditaria (\n                    <jats:styled-content style=\"fixed-case\">DUH<\/jats:styled-content>\n                    ), we found three mutations encoding amino acid substitutions in the gene\n                    <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content>\n                    and\n                    <jats:styled-content style=\"fixed-case\">SH<\/jats:styled-content>\n                    3 domain containing 1 (\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    1), and\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    1 was associated with guanine nucleotide\u2010binding protein subunit\u2010alpha isoforms short (G\u03b1s). However, the pathological gene and pathological mechanism of\n                    <jats:styled-content style=\"fixed-case\">DUH<\/jats:styled-content>\n                    remain unknown for about 90 years. We demonstrate that\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    1 is physiologically induced by p53 upon\n                    <jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content>\n                    stimulation and\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    and p53 is reciprocally induced at physiological and pathophysiological conditions.\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    1 is regulated by a novel p53\/\n                    <jats:styled-content style=\"fixed-case\">POMC<\/jats:styled-content>\n                    \/\u03b1\u2010\n                    <jats:styled-content style=\"fixed-case\">MSH<\/jats:styled-content>\n                    \/G\u03b1s\/\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    1 cascade to mediate melanogenesis. A novel p53\/\n                    <jats:styled-content style=\"fixed-case\">POMC<\/jats:styled-content>\n                    \/G\u03b1s\/\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    1 autoregulatory positive feedback loop is regulated by\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    1 mutations to induce pathological hyperpigmentation phenotype. Our study demonstrates that a novel p53\/\n                    <jats:styled-content style=\"fixed-case\">POMC<\/jats:styled-content>\n                    \/G\u03b1s\/\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    1 autoregulatory positive feedback loop is regulated by\n                    <jats:styled-content style=\"fixed-case\">SASH<\/jats:styled-content>\n                    1 mutations to induce pathological hyperpigmentation phenotype.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.13022","type":"journal-article","created":{"date-parts":[[2016,11,25]],"date-time":"2016-11-25T02:08:56Z","timestamp":1480039736000},"page":"802-815","source":"Crossref","is-referenced-by-count":24,"title":["A novel P53\/\n                    <scp>POMC<\/scp>\n                    \/G\u03b1s\/\n                    <scp>SASH<\/scp>\n                    1 autoregulatory feedback loop activates mutated\n                    <scp>SASH<\/scp>\n                    1 to cause pathologic hyperpigmentation"],"prefix":"10.1111","volume":"21","author":[{"given":"Ding'an","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Yongchuan Hospital Chongqing Medical University Chongqing China"},{"name":"Children's Hospital and Institutes of Biomedical Sciences Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyun","family":"Wei","sequence":"additional","affiliation":[{"name":"Bio\u2010X Institute Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) Shanghai Jiao Tong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongshu","family":"Kuang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Yongchuan Hospital Chongqing Medical University Chongqing 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