{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T06:07:14Z","timestamp":1790921234624,"version":"4.1.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2003,7,13]],"date-time":"2003-07-13T00:00:00Z","timestamp":1058054400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2003,8]]},"DOI":"10.1038\/ng1214","type":"journal-article","created":{"date-parts":[[2003,7,11]],"date-time":"2003-07-11T17:21:14Z","timestamp":1057944074000},"page":"434-439","source":"Crossref","is-referenced-by-count":235,"title":["Mutations in the genes encoding 11\u03b2-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency"],"prefix":"10.1038","volume":"34","author":[{"given":"Nicole","family":"Draper","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A","family":"Walker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iwona J","family":"Bujalska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy W","family":"Tomlinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M","family":"Chalder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wiebke","family":"Arlt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gareth G","family":"Lavery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Bedendo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W","family":"Ray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Laing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Malunowicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrin C","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Hewison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip J","family":"Mason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M","family":"Connell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cedric H L","family":"Shackleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul M","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2003,7,13]]},"reference":[{"key":"BFng1214_CR1","first-page":"3570","volume":"84","author":"A Jamieson","year":"1999","unstructured":"Jamieson, A. et al. Apparent cortisone reductase deficiency: a functional defect in 11\u03b2-hydroxysteroid dehydrogenase type 1. J. Clin. Endocrinol. Metab. 84, 3570\u20133574 (1999).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFng1214_CR2","first-page":"3855","volume":"81","author":"G Phillipov","year":"1996","unstructured":"Phillipov, G., Palermo, M. & Shackleton, C.H. Apparent cortisone reductase deficiency: a unique form of hypercortisolism. J. Clin. Endocrinol. Metab. 81, 3855\u20133860 (1996).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFng1214_CR3","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/S0083-6729(08)60646-9","volume":"57","author":"PM Stewart","year":"1999","unstructured":"Stewart, P.M. & Krozowski, Z.S. 11\u03b2-Hydroxysteroid dehydrogenase. Vitam. Horm. 57, 249\u2013324 (1999).","journal-title":"Vitam. Horm."},{"key":"BFng1214_CR4","doi-asserted-by":"publisher","first-page":"1827","DOI":"10.1210\/mend-4-12-1827","volume":"4","author":"AK Agarwal","year":"1990","unstructured":"Agarwal, A.K., Tusie-Luna, M.T., Monder, C. & White, P.C. Expression of 11\u03b2-hydroxysteroid dehydrogenase using recombinant vaccinia virus. Mol. Endocrinol. 4, 1827\u20131832 (1990).","journal-title":"Mol. Endocrinol."},{"key":"BFng1214_CR5","doi-asserted-by":"publisher","first-page":"21343","DOI":"10.1074\/jbc.M011142200","volume":"276","author":"EA Walker","year":"2001","unstructured":"Walker, E.A., Clark, A.M., Hewison, M., Ride, J.P. & Stewart, P.M. Functional expression, characterization, and purification of the catalytic domain of human 11\u03b2-hydroxysteroid dehydrogenase type 1. J. Biol. Chem. 276, 21343\u201321350 (2001).","journal-title":"J. Biol. Chem."},{"key":"BFng1214_CR6","doi-asserted-by":"publisher","first-page":"2305","DOI":"10.1074\/jbc.270.5.2305","volume":"270","author":"J Ozols","year":"1995","unstructured":"Ozols, J. Lumenal orientation and post-translational modifications of the liver microsomal 11\u03b2-hydroxysteroid dehydrogenase. J. Biol. Chem. 270, 2305\u20132312 (1995).","journal-title":"J. Biol. Chem."},{"key":"BFng1214_CR7","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1016\/0006-291X(79)91811-4","volume":"87","author":"JJ Stegeman","year":"1979","unstructured":"Stegeman, J.J. & Klotz, A.V. A possible role for microsomal hexose-6-phosphate dehydrogenase in microsomal electron transport and mixed-function oxygenase activity. Biochem. Biophys. Res. Commun. 87, 410\u2013415 (1979).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFng1214_CR8","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1056\/NEJM199509283331307","volume":"333","author":"S Franks","year":"1995","unstructured":"Franks, S. Polycystic ovary syndrome. N. Engl. J. Med. 333, 853\u2013861 (1995).","journal-title":"N. Engl. J. Med."},{"key":"BFng1214_CR9","first-page":"245","volume":"21","author":"PC White","year":"2000","unstructured":"White, P.C. & Speiser, P.W. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr. Rev. 21, 245\u2013291 (2000).","journal-title":"Endocr. Rev."},{"key":"BFng1214_CR10","first-page":"260","volume":"53","author":"A Biason-Lauber","year":"2000","unstructured":"Biason-Lauber, A., Suter, S.L., Shackleton, C.H. & Zachmann, M. Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. Horm. Res. 53, 260\u2013266 (2000).","journal-title":"Horm. Res."},{"key":"BFng1214_CR11","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/S0140-6736(96)90211-1","volume":"347","author":"PM Stewart","year":"1996","unstructured":"Stewart, P.M. et al. Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11\u03b2-hydroxysteroid dehydrogenase type 2 gene. Lancet 347, 88\u201391 (1996).","journal-title":"Lancet"},{"key":"BFng1214_CR12","first-page":"687","volume":"77","author":"H Nikkila","year":"1993","unstructured":"Nikkila, H. et al. Defects in the HSD11 gene encoding 11\u03b2-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. J. Clin. Endocrinol. Metab. 77, 687\u2013691 (1993).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFng1214_CR13","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1161\/01.HYP.33.6.1364","volume":"33","author":"R Fraser","year":"1999","unstructured":"Fraser, R. et al. Cortisol effects on body mass, blood pressure, and cholesterol in the general population. Hypertension 33, 1364\u20131368 (1999).","journal-title":"Hypertension"},{"key":"BFng1214_CR14","doi-asserted-by":"publisher","first-page":"1210","DOI":"10.1016\/S0140-6736(96)11222-8","volume":"349","author":"IJ Bujalska","year":"1997","unstructured":"Bujalska, I.J., Kumar, S. & Stewart, P.M. Does central obesity reflect \u201cCushing's disease of the omentum\u201d? Lancet 349, 1210\u20131213 (1997).","journal-title":"Lancet"},{"key":"BFng1214_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1081\/ERC-100107163","volume":"27","author":"AK Agarwal","year":"2001","unstructured":"Agarwal, A.K. Transcriptional influence of two poly purine-pyrimidine tracts located in the HSD11B2 (11\u03b2-hydroxysteroid dehydrogenase type 2) gene. Endocr. Res. 27, 1\u20139 (2001).","journal-title":"Endocr. Res."},{"key":"BFng1214_CR16","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1096\/fasebj.8.2.8119488","volume":"8","author":"RF Kletzien","year":"1994","unstructured":"Kletzien, R.F., Harris, P.K. & Foellmi, L.A. Glucose-6-phosphate dehydrogenase: a \u201chousekeeping\u201d enzyme subject to tissue-specific regulation by hormones, nutrients, and oxidant stress. FASEB J. 8, 174\u2013181 (1994).","journal-title":"FASEB J."},{"key":"BFng1214_CR17","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1093\/oxfordjournals.jbchem.a132336","volume":"85","author":"K Kimura","year":"1979","unstructured":"Kimura, K., Endou, H., Sudo, J. & Sakai, F. Glucose dehydrogenase (hexose 6-phosphate dehydrogenase) and the microsomal electron transport system. Evidence supporting their possible functional relationship. J. Biochem. (Tokyo) 85, 319\u2013326 (1979).","journal-title":"J. Biochem. (Tokyo)"},{"key":"BFng1214_CR18","first-page":"1205","volume":"87","author":"IJ Bujalska","year":"2002","unstructured":"Bujalska, I.J., Walker, E.A., Hewison, M. & Stewart, P.M. A switch in dehydrogenase to reductase activity of 11\u03b2-hydroxysteroid dehydrogenase type 1 upon differentiation of human omental adipose stromal cells. J. Clin. Endocrinol. Metab. 87, 1205\u20131210 (2002).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFng1214_CR19","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1006\/bcmd.1999.0224","volume":"25","author":"PJ Mason","year":"1999","unstructured":"Mason, P.J. et al. Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression. Blood Cells Mol. Dis. 25, 30\u201337 (1999).","journal-title":"Blood Cells Mol. Dis."},{"key":"BFng1214_CR20","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1056\/NEJM199402173300703","volume":"330","author":"A Rodin","year":"1994","unstructured":"Rodin, A., Thakkar, H., Taylor, N. & Clayton, R. Hyperandrogenism in polycystic ovary syndrome: evidence of dysregulation of 11\u03b2-hydroxysteroid dehydrogenase. N. Engl. J. Med. 330, 460\u2013465 (1994).","journal-title":"N. Engl. J. Med."},{"key":"BFng1214_CR21","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/S0303-7207(00)00419-6","volume":"171","author":"C Filling","year":"2001","unstructured":"Filling, C. et al. Subcellular targeting analysis of SDR-type hydroxysteroid dehydrogenases. Mol. Cell. Endocrinol. 171, 99\u2013101 (2001).","journal-title":"Mol. Cell. Endocrinol."},{"key":"BFng1214_CR22","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1038\/nrg910","volume":"3","author":"JL Badano","year":"2002","unstructured":"Badano, J.L. & Katsanis, N. Beyond Mendel: an evolving view of human genetic disease transmission. Nat. Rev. Genet. 3, 779\u2013789 (2002).","journal-title":"Nat. Rev. Genet."},{"key":"BFng1214_CR23","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/ng926","volume":"31","author":"DB Savage","year":"2002","unstructured":"Savage, D.B. et al. Digenic inheritance of severe insulin resistance in a human pedigree. Nat. Genet. 31, 379\u2013384 (2002).","journal-title":"Nat. Genet."},{"key":"BFng1214_CR24","doi-asserted-by":"publisher","first-page":"1604","DOI":"10.1126\/science.8202715","volume":"264","author":"K Kajiwara","year":"1994","unstructured":"Kajiwara, K., Berson, E.L. & Dryja, T.P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin\/RDS and ROM1 loci. Science 264, 1604\u20131608 (1994).","journal-title":"Science"},{"key":"BFng1214_CR25","doi-asserted-by":"publisher","first-page":"2256","DOI":"10.1126\/science.1063525","volume":"293","author":"N Katsanis","year":"2001","unstructured":"Katsanis, N. et al. Triallelic inheritance in Bardet\u2013Biedl syndrome, a Mendelian recessive disorder. Science 293, 2256\u20132259 (2001).","journal-title":"Science"},{"key":"BFng1214_CR26","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1038\/ng1147","volume":"34","author":"VE Carlton","year":"2003","unstructured":"Carlton, V.E. et al. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat. Genet. 34, 91\u201396 (2003).","journal-title":"Nat. Genet."},{"key":"BFng1214_CR27","doi-asserted-by":"publisher","first-page":"14924","DOI":"10.1073\/pnas.94.26.14924","volume":"94","author":"Y Kotelevtsev","year":"1997","unstructured":"Kotelevtsev, Y. et al. 11\u03b2-hydroxysteroid dehydrogenase type 1 knockout mice show attenuated glucocorticoid-inducible responses and resist hyperglycemia on obesity or stress. Proc. Natl. Acad. Sci. USA 94, 14924\u201314929 (1997).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng1214_CR28","doi-asserted-by":"publisher","first-page":"2166","DOI":"10.1126\/science.1066285","volume":"294","author":"H Masuzaki","year":"2001","unstructured":"Masuzaki, H. et al. A transgenic model of visceral obesity and the metabolic syndrome. Science 294, 2166\u20132170 (2001).","journal-title":"Science"},{"key":"BFng1214_CR29","doi-asserted-by":"publisher","first-page":"1528","DOI":"10.1007\/s00125-002-0959-6","volume":"45","author":"P Alberts","year":"2002","unstructured":"Alberts, P. et al. Selective inhibition of 11\u03b2-hydroxysteroid dehydrogenase type 1 decreases blood glucose concentrations in hyperglycaemic mice. Diabetologia 45, 1528\u20131532 (2002).","journal-title":"Diabetologia"},{"key":"BFng1214_CR30","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1359\/jbmr.2002.17.6.979","volume":"17","author":"MS Cooper","year":"2002","unstructured":"Cooper, M.S. et al. Osteoblastic 11\u03b2-hydroxysteroid dehydrogenase type 1 activity increases with age and glucocorticoid exposure. J. Bone Miner. Res. 17, 979\u2013986 (2002).","journal-title":"J. Bone Miner. Res."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng1214.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1214","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng1214.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T21:22:17Z","timestamp":1684444937000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng1214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7,13]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2003,8]]}},"alternative-id":["BFng1214"],"URL":"https:\/\/doi.org\/10.1038\/ng1214","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7,13]]}}}