{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:05:37Z","timestamp":1791896737670,"version":"4.3.4"},"reference-count":169,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[1998,1,1]],"date-time":"1998-01-01T00:00:00Z","timestamp":883612800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[1998,1]]},"abstract":"<jats:p> Menkes disease and occipital horn syndrome (OHS) are related disorders of copper transport that involve abnormal neurodevelopment, connective tissue problems, and often premature death. Location of the gene responsible for these conditions on the X chromosome was indicated by pedigree analysis from the time of these syndromes' earliest descriptions. Characterization of an affected female with an X-autosomal translocation was used to identify the Menkes\/OHS gene, which encodes a highly evolutionarily conserved, copper-transporting P-type ATPase. The gene normally is expressed in nearly all human tissues, and it localizes to the trans-Golgi network of cells. However, in over 70% of Menkes and OHS patients studied, expression of this gene has been demonstrated to be abnormal. Major gene deletions detectable by Southern blotting account for 15\u201320% of patients, and an interesting spectrum of other mutations is evident among 58 families whose precise molecular defects have been reported as of this writing. The center region of the gene seems particularly prone to mutation, and those that influence mRNA processing and splicing appear to be relatively common. Further advances in understanding the molecular and cell biological mechanisms involved in normal copper transport may ultimately yield new and better approaches to the management of these disorders. <\/jats:p>","DOI":"10.1007\/s100249900011","type":"journal-article","created":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T06:40:57Z","timestamp":1027579257000},"page":"85-98","source":"Crossref","is-referenced-by-count":111,"title":["Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome"],"prefix":"10.1177","volume":"1","author":[{"given":"Stephen G.","family":"Kaler","sequence":"first","affiliation":[{"name":"Clinical Neuroscience Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA"},{"name":"Department of Laboratory Medicine, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010-2970, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[1998,1,1]]},"reference":[{"key":"bibr1-s100249900011","first-page":"487","volume-title":"Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects","author":"Danks DM","year":"1993"},{"key":"bibr2-s100249900011","doi-asserted-by":"publisher","DOI":"10.1038\/ng0193-7"},{"key":"bibr3-s100249900011","doi-asserted-by":"publisher","DOI":"10.1038\/ng0193-14"},{"key":"bibr4-s100249900011","doi-asserted-by":"publisher","DOI":"10.1038\/ng0193-20"},{"key":"bibr5-s100249900011","doi-asserted-by":"crossref","first-page":"12775","DOI":"10.1016\/S0021-9258(18)31455-8","volume":"268","author":"Odermatt A","year":"1993","journal-title":"J Biol Chem"},{"key":"bibr6-s100249900011","doi-asserted-by":"publisher","DOI":"10.1002\/yea.320110310"},{"key":"bibr7-s100249900011","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-369"},{"key":"bibr8-s100249900011","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-374"},{"key":"bibr9-s100249900011","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-327"},{"issue":"5","key":"bibr10-s100249900011","first-page":"71","volume":"11","author":"Lazoff SG","year":"1975","journal-title":"Birth Defects"},{"key":"bibr11-s100249900011","first-page":"61","volume":"303","author":"Byers PH","year":"1980","journal-title":"Defective crosslink formation in collagen due to decreased lysyl oxidase activity. 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