{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:42:20Z","timestamp":1791268940761,"version":"4.1.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2002,7,15]],"date-time":"2002-07-15T00:00:00Z","timestamp":1026691200000},"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":[[2002,8]]},"DOI":"10.1038\/ng925","type":"journal-article","created":{"date-parts":[[2002,7,28]],"date-time":"2002-07-28T17:36:31Z","timestamp":1027877791000},"page":"410-414","source":"Crossref","is-referenced-by-count":293,"title":["Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger\u2013Hu\u00ebt anomaly)"],"prefix":"10.1038","volume":"31","author":[{"given":"Katrin","family":"Hoffmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine K.","family":"Dreger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ada L.","family":"Olins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald E.","family":"Olins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard D.","family":"Shultz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Lucke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut","family":"Karl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhard","family":"Kaps","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietmar","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amparo","family":"Vay\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justo","family":"Aznar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russell E.","family":"Ware","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norberto Sotelo","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom H.","family":"Lindner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Sperling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2002,7,15]]},"reference":[{"key":"BFng925_CR1","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1159\/000204063","volume":"7","author":"N Haverkamp Begemann","year":"1952","unstructured":"Haverkamp Begemann, N. & van Lookeren Campagne, A. Homozygous form of Pelger\u2013Hu\u00ebt's nuclear anomaly in man. Acta Haematol. Basel 7, 295\u2013303 (1952).","journal-title":"Acta Haematol. Basel"},{"key":"BFng925_CR2","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1159\/000207095","volume":"66","author":"J Aznar","year":"1981","unstructured":"Aznar, J. & Vaya, A. Homozygous form of the Pelger\u2013Hu\u00ebt leukocyte anomaly in man. Acta Haematol. Basel 66, 59\u201362 (1981).","journal-title":"Acta Haematol. Basel"},{"key":"BFng925_CR3","first-page":"164","volume":"51","author":"E Siegert","year":"1983","unstructured":"Siegert, E., Beier, L. & Gr\u00e4bner, H. Ein Beitrag zur homozygoten Form der Pelger\u2013Hu\u00ebtschen\u2013Kernanomalie. Kinderarztl. Prax. 51, 164\u2013169 (1983).","journal-title":"Kinderarztl. Prax."},{"key":"BFng925_CR4","first-page":"249","volume":"67","author":"E Undritz","year":"1943","unstructured":"Undritz, E. Das ausschliessliche Vorkommen reifer rundkerniger Leukozyten bei der reingez\u00fcchteten Pelger\u2013Hu\u00ebtschen Anomalie des Kaninchens und die Bedeutung der Pelger\u2013Leukozyten in der vergleichenden H\u00e4matologie. Folia Haemat. 67, 249\u2013291 (1943).","journal-title":"Folia Haemat."},{"key":"BFng925_CR5","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1093\/oxfordjournals.jhered.a106108","volume":"XLI","author":"H Nachtsheim","year":"1950","unstructured":"Nachtsheim, H. The Pelger\u2013Anomaly in man and rabbit. J. Hered. XLI, 131\u2013137 (1950).","journal-title":"J. Hered."},{"key":"BFng925_CR6","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1006\/geno.1998.5615","volume":"54","author":"L Holmer","year":"1998","unstructured":"Holmer, L., Pezhman, A. & Worman, H.J. The human lamin B receptor\/sterol reductase multigene family. Genomics 54, 469\u2013476 (1998).","journal-title":"Genomics"},{"key":"BFng925_CR7","doi-asserted-by":"publisher","first-page":"14983","DOI":"10.1074\/jbc.272.23.14983","volume":"272","author":"Q Ye","year":"1997","unstructured":"Ye, Q., Callebaut, I., Pezhman, A., Courvalin, J.C. & Worman, H.J. Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein lamin B receptor. J. Biol. Chem. 272, 14983\u201314989 (1997).","journal-title":"J. Biol. Chem."},{"key":"BFng925_CR8","doi-asserted-by":"crossref","first-page":"11312","DOI":"10.1016\/S0021-9258(19)78127-7","volume":"269","author":"E Schuler","year":"1994","unstructured":"Schuler, E., Lin, F. & Worman, H.J. Characterization of the human gene encoding lamin B receptor, an integral protein of the nuclear envelope inner membrane. J. Biol. Chem. 269, 11312\u201311317 (1994).","journal-title":"J. Biol. Chem."},{"key":"BFng925_CR9","first-page":"1287","volume":"96","author":"D Sainty","year":"2000","unstructured":"Sainty, D. et al. A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF\/RARA gene rearrangements. Blood 96, 1287\u20131296 (2000).","journal-title":"Blood"},{"key":"BFng925_CR10","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1001\/archinte.1982.00340140155028","volume":"142","author":"TD Shenkenberg","year":"1982","unstructured":"Shenkenberg, T.D., Rice, L. & Waddell, C.C. Acquired Pelger\u2013Hu\u00ebt nuclear anomaly with tuberculosis. Arch. Intern. Med. 142, 153\u2013154 (1982).","journal-title":"Arch. Intern. Med."},{"key":"BFng925_CR11","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1046\/j.1365-2141.1996.4701020.x","volume":"93","author":"SK Juneja","year":"1996","unstructured":"Juneja, S.K. et al. Association of acquired Pelger\u2013Hu\u00ebt anomaly with taxoid therapy. Br. J. Haematol. 93, 139\u2013141 (1996).","journal-title":"Br. J. Haematol."},{"key":"BFng925_CR12","first-page":"1177","volume":"69","author":"E Undritz","year":"1939","unstructured":"Undritz, E. Das Pelger\u2013Hu\u00ebtsche Blutbild beim Tier und seine Bedeutung f\u00fcr die Entwicklungsgeschichte des Blutes. Schweiz. Med. Wochenschr. 69, 1177\u20131186 (1939).","journal-title":"Schweiz. Med. Wochenschr."},{"key":"BFng925_CR13","unstructured":"Johansson, E.O. The Pelger Anomaly: Genetic, Cytologic and Epidemiologic Aspects of Some Data from Sweden. Thesis, Uppsala Univ. (1963)."},{"key":"BFng925_CR14","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1093\/ajcp\/37.3.294","volume":"37","author":"LP Skendzel","year":"1962","unstructured":"Skendzel, L.P. & Hoffman, G.C. The Pelger anomaly of leukocytes: forty-one cases in seven families. Am. J. Clin. Pathol. 37, 294\u2013301 (1962).","journal-title":"Am. J. Clin. Pathol."},{"key":"BFng925_CR15","unstructured":"Karl, H. Die besondere H\u00e4ufung von Merkmalstr\u00e4gern der Pelger\u2013Hu\u00ebt\u2013Kernanomalie der Leukozyten in Gelenau im Erzgebirge. Thesis, Humboldt Univ., Berlin (1967)."},{"key":"BFng925_CR16","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1097\/00007890-197508000-00014","volume":"20","author":"MC Green","year":"1975","unstructured":"Green, M.C., Shultz, L.D. & Nedzi, L.A. Abnormal nuclear morphology of leukocytes in the mouse mutant ichthyosis. Transplantation 20, 172\u2013175 (1975).","journal-title":"Transplantation"},{"key":"BFng925_CR17","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1083\/jcb.153.3.479","volume":"153","author":"EC Schirmer","year":"2001","unstructured":"Schirmer, E.C., Guan, T. & Gerace, L. Involvement of the lamin rod domain in heterotypic lamin interactions important for nuclear organization. J. Cell Biol. 153, 479\u2013489 (2001).","journal-title":"J. Cell Biol."},{"key":"BFng925_CR18","doi-asserted-by":"publisher","first-page":"3937","DOI":"10.1091\/mbc.11.11.3937","volume":"11","author":"J Liu","year":"2000","unstructured":"Liu, J. et al. Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes. Mol. Biol. Cell 11, 3937\u20133947 (2000).","journal-title":"Mol. Biol. Cell"},{"key":"BFng925_CR19","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1083\/jcb.137.5.1001","volume":"137","author":"B Lenz\u2013B\u00f6hme","year":"1997","unstructured":"Lenz\u2013B\u00f6hme, B. et al. Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae. J. Cell Biol. 137, 1001\u20131016 (1997).","journal-title":"J. Cell Biol."},{"key":"BFng925_CR20","doi-asserted-by":"publisher","first-page":"1715","DOI":"10.1056\/NEJM199912023412302","volume":"341","author":"D Fatkin","year":"1999","unstructured":"Fatkin, D. et al. Missense mutations in the rod domain of the lamin A\/C gene as causes of dilated cardiomyopathy and conduction-system disease. N. Engl. J. Med. 341, 1715\u20131724 (1999).","journal-title":"N. Engl. J. Med."},{"key":"BFng925_CR21","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/6799","volume":"21","author":"G Bonne","year":"1999","unstructured":"Bonne, G. et al. Mutations in the gene encoding lamin A\/C cause autosomal dominant Emery\u2013Dreifuss muscular dystrophy. Nature Genet. 21, 285\u2013288 (1999).","journal-title":"Nature Genet."},{"key":"BFng925_CR22","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1038\/72807","volume":"24","author":"S Shackleton","year":"2000","unstructured":"Shackleton, S. et al. LMNA, encoding lamin A\/C, is mutated in partial lipodystrophy. Nature Genet. 24, 153\u2013156 (2000).","journal-title":"Nature Genet."},{"key":"BFng925_CR23","doi-asserted-by":"publisher","first-page":"864","DOI":"10.1002\/(SICI)1097-4598(199907)22:7<864::AID-MUS8>3.0.CO;2-G","volume":"22","author":"A Ognibene","year":"1999","unstructured":"Ognibene, A. et al. Nuclear changes in a case of X-linked Emery\u2013Dreifuss muscular dystrophy. Muscle Nerve 22, 864\u2013869 (1999).","journal-title":"Muscle Nerve"},{"key":"BFng925_CR24","doi-asserted-by":"crossref","first-page":"4459","DOI":"10.1242\/jcs.114.24.4459","volume":"114","author":"C Vigouroux","year":"2001","unstructured":"Vigouroux, C. et al. Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q\/W mutations in the lamin A\/C gene. J. Cell Sci. 114, 4459\u20134468 (2001).","journal-title":"J. Cell Sci."},{"key":"BFng925_CR25","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1177\/030098588802500416","volume":"25","author":"KS Latimer","year":"1988","unstructured":"Latimer, K.S., Rowland, G.N. & Mahaffey, M.B. Homozygous Pelger\u2013Hu\u00ebt anomaly and chondrodysplasia in a stillborn kitten. Vet. Pathol. 25, 325\u2013328 (1988).","journal-title":"Vet. Pathol."},{"key":"BFng925_CR26","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/S0005-2760(98)00041-1","volume":"1392","author":"S Silve","year":"1998","unstructured":"Silve, S., Dupuy, P.H., Ferrara, P. & Loison, G. Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae. Biochim. Biophys. Acta 1392, 233\u2013244 (1998).","journal-title":"Biochim. Biophys. Acta"},{"key":"BFng925_CR27","doi-asserted-by":"publisher","first-page":"8181","DOI":"10.1073\/pnas.95.14.8181","volume":"95","author":"BU Fitzky","year":"1998","unstructured":"Fitzky, B.U. et al. Mutations in the \u03947-sterol reductase gene in patients with the Smith\u2013Lemli\u2013Opitz syndrome. Proc. Natl Acad. Sci. USA 95, 8181\u20138186 (1998).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng925_CR28","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1007\/BF01726689","volume":"99","author":"TH Hoger","year":"1990","unstructured":"Hoger, T.H., Zatloukal, K., Waizenegger, I. & Krohne, G. Characterization of a second highly conserved B-type lamin present in cells previously thought to contain only a single B-type lamin. Chromosoma 99, 379\u2013390 (1990).","journal-title":"Chromosoma"},{"key":"BFng925_CR29","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1006\/excr.2001.5269","volume":"268","author":"AL Olins","year":"2001","unstructured":"Olins, A.L. et al. Nuclear envelope and chromatin compositional differences comparing undifferentiated and retinoic acid- and phorbol ester-treated HL-60 cells. Exp. Cell Res. 268, 115\u2013127 (2001).","journal-title":"Exp. Cell Res."},{"key":"BFng925_CR30","doi-asserted-by":"crossref","first-page":"11306","DOI":"10.1016\/S0021-9258(19)78126-5","volume":"269","author":"Q Ye","year":"1994","unstructured":"Ye, Q. & Worman, H.J. Primary structure analysis and lamin B and DNA binding of human lamin B receptor, an integral protein of the nuclear envelope inner membrane. J. Biol. Chem. 269, 11306\u201311311 (1994).","journal-title":"J. Biol. Chem."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng925.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng925","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng925.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T18:17:56Z","timestamp":1684433876000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng925"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7,15]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,8]]}},"alternative-id":["BFng925"],"URL":"https:\/\/doi.org\/10.1038\/ng925","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,7,15]]}}}