{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:22:50Z","timestamp":1791346970489,"version":"4.3.1"},"reference-count":27,"publisher":"National Academy of Sciences","issue":"13","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1997,6,24]]},"abstract":"<jats:p>\n                    Mouse cartilage matrix deficiency (\n                    <jats:italic>cmd<\/jats:italic>\n                    ) is an autosomal recessive disorder caused by a genetic defect of aggrecan, a large chondroitin sulfate proteoglycan in cartilage. The homozygotes (\u2212\/\u2212) are characterized by cleft palate and short limbs, tail, and snout. They die just after birth because of respiratory failure, and the heterozygotes (+\/\u2212) appear normal at birth. Here we report that the heterozygotes show dwarfism and develop spinal misalignment with age. Within 19 months of age, they exhibit spastic gait caused by misalignment of the cervical spine and die because of starvation. Histological examination revealed a high incidence of herniation and degeneration of vertebral discs. Electron microscopy showed a degeneration of disc chondrocytes in the heterozygotes. These findings may facilitate the identification of mutations in humans predisposed to spinal degeneration.\n                  <\/jats:p>","DOI":"10.1073\/pnas.94.13.6943","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:35:50Z","timestamp":1027679750000},"page":"6943-6947","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":136,"title":["Dwarfism and age-associated spinal degeneration of heterozygote\n                    <i>cmd<\/i>\n                    mice defective in\u2009aggrecan"],"prefix":"10.1073","volume":"94","author":[{"given":"Hideto","family":"Watanabe","sequence":"first","affiliation":[{"name":"Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892-4370; Institute for Molecular Science of Medicine, Aichi Medical University, Nagakute, Aichi, 480-11 Japan; and Department of Pathology, Kanazawa University,  School of Medicine, Kanazawa, Ishikawa, 920, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Nakata","sequence":"additional","affiliation":[{"name":"Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892-4370; Institute for Molecular Science of Medicine, Aichi Medical University, Nagakute, Aichi, 480-11 Japan; and Department of Pathology, Kanazawa University,  School of Medicine, Kanazawa, Ishikawa, 920, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Kimata","sequence":"additional","affiliation":[{"name":"Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892-4370; Institute for Molecular Science of Medicine, Aichi Medical University, Nagakute, Aichi, 480-11 Japan; and Department of Pathology, Kanazawa University,  School of Medicine, Kanazawa, Ishikawa, 920, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isao","family":"Nakanishi","sequence":"additional","affiliation":[{"name":"Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892-4370; Institute for Molecular Science of Medicine, Aichi Medical University, Nagakute, Aichi, 480-11 Japan; and Department of Pathology, Kanazawa University,  School of Medicine, Kanazawa, Ishikawa, 920, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiko","family":"Yamada","sequence":"additional","affiliation":[{"name":"Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892-4370; Institute for Molecular Science of Medicine, Aichi Medical University, Nagakute, Aichi, 480-11 Japan; and Department of Pathology, Kanazawa University,  School of Medicine, Kanazawa, Ishikawa, 920, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1997,6,24]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1002\/bies.950171208"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.6.3.1740236"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.3109\/17453679509157660"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117314"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/jor.1100120403"},{"key":"e_1_3_3_6_2","first-page":"71","volume":"43","author":"Rittenhouse E","year":"1978","unstructured":"E Rittenhouse, L C Dunn, J Cookingham, C Calo, M Spiegelman, G B Dooher, D Bennett J Embryol Exp Morphol 43, 71\u201384 (1978).","journal-title":"J Embryol Exp 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