{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T00:15:06Z","timestamp":1790468106548,"version":"4.1.0"},"reference-count":37,"publisher":"National Academy of Sciences","issue":"26","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2006,6,27]]},"abstract":"<jats:p>\n                    Ciliary neurotrophic factor (CNTF) receptor controls a pathway supporting the differentiation and survival of a wide range of neural cell types during development and in adulthood. Cardiotrophin-like cytokine (CLC)\u2013cytokine-like factor 1 (CLF) composite cytokine is a second ligand for the CNTF \u03b1-component receptor (CNTFR\u03b1). This composite cytokine is built on the structural model of IL-12, with a complex formed by a four-helix bundle type I cytokine, CLC (also referred to as\n                    <jats:italic>CLCF1<\/jats:italic>\n                    ), bound to a soluble receptor subunit, CLF (also known as\n                    <jats:italic>CRLF1<\/jats:italic>\n                    ). We have reported mutations in the chaperone soluble receptor CLF, causing cold-induced sweating syndrome (CISS). In this study, we studied the\n                    <jats:italic>CLC<\/jats:italic>\n                    -mutated alleles in a patient suffering from a similar disease. This patient was compound heterozygous for two different\n                    <jats:italic>CLC<\/jats:italic>\n                    mutations. The first allele was inactivated by a stop codon at position 107 (Y107X). In the second allele, a R197L mutation in the CLC-predicted binding site to the CNTFR\u03b1 was detected. Functional analysis of the mutated protein revealed an incapacity for R197L CLC to bind to CNTFR\u03b1 and activate the subsequent signaling events. Structural and docking interaction studies showed that the R197L substitution destabilized the contact site between CLC and CNTFR\u03b1.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0509598103","type":"journal-article","created":{"date-parts":[[2006,6,16]],"date-time":"2006-06-16T21:16:25Z","timestamp":1150492585000},"page":"10068-10073","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":56,"title":["Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient"],"prefix":"10.1073","volume":"103","author":[{"given":"Fran\u00e7ois","family":"Rousseau","sequence":"first","affiliation":[{"name":"*Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, U564, F-49033 Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Gauchat","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Pharmacologie, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, U743, Universit\u00e9 de Montr\u00e9al, CP 6128, Succursale Centre-ville, Montr\u00e9al, QC, Canada H3C 3J7;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James G.","family":"McLeod","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neuroscience, Royal Prince Alfred Hospital, University of Sydney, NSW 2006, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Chevalier","sequence":"additional","affiliation":[{"name":"*Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, U564, F-49033 Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Guillet","sequence":"additional","affiliation":[{"name":"*Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, U564, F-49033 Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Guilhot","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Pharmacologie, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, U743, Universit\u00e9 de Montr\u00e9al, CP 6128, Succursale Centre-ville, Montr\u00e9al, QC, Canada H3C 3J7;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Cognet","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Pharmacologie, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, U743, Universit\u00e9 de Montr\u00e9al, CP 6128, Succursale Centre-ville, Montr\u00e9al, QC, Canada H3C 3J7;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josy","family":"Froger","sequence":"additional","affiliation":[{"name":"*Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, U564, F-49033 Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika F.","family":"Hahn","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurological Sciences, London Health Science Center, University of Western Ontario, London, ON, Canada N6A 5C2;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per M.","family":"Knappskog","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway; and"},{"name":"**Section of Medical Genetics and Molecular Medicine, Department of Clinical Medicine, University of Bergen, 5007 Bergen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugues","family":"Gascan","sequence":"additional","affiliation":[{"name":"*Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, U564, F-49033 Angers, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helge","family":"Boman","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway; and"},{"name":"**Section of Medical Genetics and Molecular Medicine, Department of Clinical Medicine, University of Bergen, 5007 Bergen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2006,6,27]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ne.19.030196.002423"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(93)90245-M"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/358502a0"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8066451"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90113-9"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.19-04-01257.1999"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8390097"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1515\/BC.1999.100"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7871433"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90172-8"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/365027a0"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0594-79"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0306178101"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/78765"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.20.11458"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.1181"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(91)90258-2"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.23-26-08854.2003"},{"key":"e_1_3_3_19_2","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.4049\/jimmunol.161.3.1371","volume":"161","author":"Elson G. 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