{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:16:56Z","timestamp":1762507016764,"version":"3.37.3"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,6,8]],"date-time":"2017-06-08T00:00:00Z","timestamp":1496880000000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea (NRF)","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministry of Education","award":["2013-R1A1A1058252"],"award-info":[{"award-number":["2013-R1A1A1058252"]}]},{"name":"Chonnam National University Hospital Biomedical Research Institute","award":["CRI13902-24"],"award-info":[{"award-number":["CRI13902-24"]}]},{"name":"Chonnam National University Hwasun Hospital Biomedical Research Institute","award":["HCRI 15013-21"],"award-info":[{"award-number":["HCRI 15013-21"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, features loss of pain sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self\u2010mutilating behavior, and variable mental retardation. Mutations in <jats:italic>neurotrophic receptor tyrosine kinase 1 (NTRK1)<\/jats:italic> have been reported to be associated with CIPA. We identified four novel <jats:italic>NTRK1<\/jats:italic> mutations in six Korean patients from four unrelated families. Of the four mutations, we demonstrated using a splicing assay that IVS14+3A&gt;T causes aberrant splicing of <jats:italic>NTRK1<\/jats:italic> mRNA, leading to introduction of a premature termination codon. An NTRK1 autophosphorylation assay showed that c.1786G&gt;A (p.Asp596Asn) abolished autophosphorylation of NTRK1. In addition, Western blotting showed that c.704C&gt;G (p.Ser235*) and c.2350_2363del (p.Leu784Serfs*79) blunted NTRK1 expression to undetectable levels. The four novel <jats:italic>NTRK1<\/jats:italic> mutations we report here will expand the repertoire of <jats:italic>NTRK1<\/jats:italic> mutations in CIPA patients, and further our understanding of CIPA pathogenesis.<\/jats:p>","DOI":"10.1111\/jns.12205","type":"journal-article","created":{"date-parts":[[2017,2,8]],"date-time":"2017-02-08T15:56:43Z","timestamp":1486569403000},"page":"92-99","source":"Crossref","is-referenced-by-count":16,"title":["Novel <i>NTRK1<\/i> mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies"],"prefix":"10.1111","volume":"22","author":[{"given":"Tai\u2010Seung","family":"Nam","sequence":"first","affiliation":[{"name":"Department of Neurology Chonnam National University Medical School  Gwangju Republic of Korea"},{"name":"Department of Neurology Chonnam National University Hwasun Hospital  Hwasun Jeonnam Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenting","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences Chonnam National University Medical School  Gwangju Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Somy","family":"Yoon","sequence":"additional","affiliation":[{"name":"Department of Pharmacology Chonnam National University Medical School  Gwangju Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gwang Hyeon","family":"Eom","sequence":"additional","affiliation":[{"name":"Department of Pharmacology Chonnam National University Medical School  Gwangju Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myeong\u2010Kyu","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology Chonnam National University Medical School  Gwangju Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung Taek","family":"Jung","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Chonnam National University Medical School  Gwangju Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7193-292X","authenticated-orcid":false,"given":"Seok\u2010Yong","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences Chonnam National University Medical School  Gwangju Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,8]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_6_2_1","DOI":"10.1111\/j.1749-6632.1995.tb26693.x"},{"doi-asserted-by":"publisher","key":"e_1_2_6_3_1","DOI":"10.1016\/S0021-9258(18)82449-8"},{"doi-asserted-by":"publisher","key":"e_1_2_6_4_1","DOI":"10.1007\/s10897-008-9169-9"},{"doi-asserted-by":"publisher","key":"e_1_2_6_5_1","DOI":"10.12688\/f1000research.5654.1"},{"doi-asserted-by":"publisher","key":"e_1_2_6_6_1","DOI":"10.1016\/j.nmd.2007.10.005"},{"doi-asserted-by":"publisher","key":"e_1_2_6_7_1","DOI":"10.1007\/s102860200016"},{"doi-asserted-by":"publisher","key":"e_1_2_6_8_1","DOI":"10.1111\/j.1399-0004.2012.01943.x"},{"doi-asserted-by":"publisher","key":"e_1_2_6_9_1","DOI":"10.1111\/ejn.12448"},{"doi-asserted-by":"publisher","key":"e_1_2_6_10_1","DOI":"10.1038\/ng0896-485"},{"doi-asserted-by":"publisher","key":"e_1_2_6_11_1","DOI":"10.1016\/j.cell.2010.06.011"},{"doi-asserted-by":"publisher","key":"e_1_2_6_12_1","DOI":"10.4068\/cmj.2016.52.1.45"},{"doi-asserted-by":"publisher","key":"e_1_2_6_13_1","DOI":"10.1212\/WNL.0b013e3182684683"},{"doi-asserted-by":"publisher","key":"e_1_2_6_14_1","DOI":"10.1038\/nrm4063"},{"doi-asserted-by":"publisher","key":"e_1_2_6_15_1","DOI":"10.1086\/302422"},{"doi-asserted-by":"publisher","key":"e_1_2_6_16_1","DOI":"10.1093\/hmg\/10.3.179"},{"doi-asserted-by":"publisher","key":"e_1_2_6_17_1","DOI":"10.1074\/jbc.M110016200"},{"doi-asserted-by":"publisher","key":"e_1_2_6_18_1","DOI":"10.1007\/s004390051018"},{"unstructured":"NCBI. 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