{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:35:34Z","timestamp":1777728934079,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2017,3,27]],"date-time":"2017-03-27T00:00:00Z","timestamp":1490572800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical examination and genetic testing were conducted of all available family members, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) including intron\u2013exon boundaries was used to identify mutations associated with CIPA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A novel nonsense mutation (c.7C\u2009&gt;\u2009T, p. Arg3Ter) and a known splice-site mutation (c.851-33 T\u2009&gt;\u2009A) were detected in NTRK1 and shown to be associated with CIPA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our findings expand the known mutation spectrum of NTRK1 and provide insights into the aetiology of CIPA.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0300060517691699","type":"journal-article","created":{"date-parts":[[2017,3,27]],"date-time":"2017-03-27T06:18:27Z","timestamp":1490595507000},"page":"549-555","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis"],"prefix":"10.1177","volume":"45","author":[{"given":"Ting","family":"Wang","sequence":"first","affiliation":[{"name":"Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haibo","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingjing","family":"Xiang","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Wei","sequence":"additional","affiliation":[{"name":"Institute for Fetology, the First Affiliated Hospital of Soochow University, Suzhou City, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Zhu","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minjuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Sun","sequence":"additional","affiliation":[{"name":"Institute for Fetology, the First Affiliated Hospital of Soochow University, Suzhou City, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou City, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,3,27]]},"reference":[{"key":"bibr1-0300060517691699","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1963.00460030083008"},{"issue":"1","key":"bibr2-0300060517691699","doi-asserted-by":"crossref","first-page":"I20","DOI":"10.1007\/s102860200016","volume":"12","author":"Indo Y","year":"2002","journal-title":"Clin Auton 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