{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:01:38Z","timestamp":1790737298931,"version":"4.1.0"},"reference-count":27,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2006,5,1]],"date-time":"2006-05-01T00:00:00Z","timestamp":1146441600000},"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":["Journal of Investigative Medicine"],"published-print":{"date-parts":[[2006,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by skeletal abnormalities such as hypoplasia of the mandible and clavicles and acro-osteolysis. Other features include cutaneous atrophy and lipodystrophy. Two genetic loci are known for MAD: lamin A\/C ( LMNA), encoding structural nuclear lamina proteins, and zinc metalloproteinase ( ZMPSTE24), a membrane-bound endoprotease involved in post-translational proteolytic cleavage of carboxy terminal residues of prelamin A to form mature lamin A.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Mutational analysis of ZMPSTE24 in an additional patient with MAD and determination of functional activity of mutant ZMPSTE24 in a yeast growth arrest pheromone diffusion (halo) assay.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We previously reported a Belgian woman with MAD who had ZMPSTE24 mutations and died of complications of chronic renal failure at the age of 27.5 years. We now report a 37-year-old Australian man with MAD who also had compound heterozygous mutations in the ZMPSTE24 gene, a null mutation, Phe361fsX379, and a missense mutation, Asn265Ser, which is partially active in the yeast complementation assay. He also developed end-stage renal disease and, despite receiving a cadaveric renal transplantation, died prematurely at the age of 37 years. Renal biopsies of both patients revealed focal segmental glomerulosclerosis, and the female patient had the collapsing variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These observations suggest focal segmental glomerulosclerosis as a phenotypic manifestation in patients with ZMPSTE24 deficiency.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.2310\/6650.2006.05068","type":"journal-article","created":{"date-parts":[[2007,8,13]],"date-time":"2007-08-13T16:14:55Z","timestamp":1187021695000},"page":"208-213","source":"Crossref","is-referenced-by-count":65,"title":["Focal Segmental Glomerulosclerosis in Patients with Mandibuloacral Dysplasia Owing to ZMPSTE24 Deficiency"],"prefix":"10.1177","volume":"54","author":[{"given":"Anil K.","family":"Agarwal","sequence":"first","affiliation":[{"name":"Division of Nutrition and Metabolic Diseases, University of Texas Southwestern Medical Center, Dallas, TX;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin J.","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Center for Human Nutrition, and the Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger K.","family":"Hall","sequence":"additional","affiliation":[{"name":"Department of Dentistry, Royal Children's Hospital, Melbourne, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy","family":"Nicholls","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Royal Melbourne Hospital, Victoria, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"Bankier","sequence":"additional","affiliation":[{"name":"Genetic Health Services Victoria, University of Melbourne, Melbourne, Victoria, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"Van Esch","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, University Hospital of Leuven, Leuven, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Pierre","family":"Fryns","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, University Hospital of Leuven, Leuven, Belgium."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhimanyu","family":"Garg","sequence":"additional","affiliation":[{"name":"Division of Nutrition and Metabolic Diseases, University of Texas Southwestern Medical Center, Dallas, TX;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2006,5,1]]},"reference":[{"key":"bibr1-6650.2006.05068","doi-asserted-by":"publisher","DOI":"10.1086\/341908"},{"key":"bibr2-6650.2006.05068","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021575"},{"key":"bibr3-6650.2006.05068","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.11.854"},{"key":"bibr4-6650.2006.05068","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-2560"},{"key":"bibr5-6650.2006.05068","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-003-0025-3"},{"key":"bibr6-6650.2006.05068","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019661"},{"key":"bibr7-6650.2006.05068","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg213"},{"key":"bibr8-6650.2006.05068","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029751"},{"key":"bibr9-6650.2006.05068","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430525"},{"key":"bibr10-6650.2006.05068","first-page":"99","volume":"10","author":"Danks 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