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References

These sources were used to develop the Genetics Home Reference gene summary on the LBR gene.

Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, Lang C, Baasanjav S, Kieslich M, Brossuleit K, Gravemann S, Schnipper N, Karbasyian M, Demuth I, Zwerger M, Vaya A, Utermann G, Mundlos S, Stricker S, Sperling K, Hoffmann K. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus. 2010 Jul-Aug;1(4):354-66. doi: 10.4161/nucl.1.4.12435. Epub 2010 May 21. PubMed citation
Duband-Goulet I, Courvalin JC. Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker. Biochemistry. 2000 May 30;39(21):6483-8. PubMed citation
Entrez Gene
Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, Karl H, Kaps R, Müller D, Vayá A, Aznar J, Ware RE, Sotelo Cruz N, Lindner TH, Herrmann H, Reis A, Sperling K. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet. 2002 Aug;31(4):410-4. Epub 2002 Jul 15. PubMed citation
OMIM: LAMIN B RECEPTOR
Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. J Med Genet. 2003 Dec;40(12):937-41. Review. PubMed citation
Silve S, Dupuy PH, Ferrara P, Loison G. Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae. Biochim Biophys Acta. 1998 Jun 15;1392(2-3):233-44. PubMed citation
Tseng LC, Chen RH. Temporal control of nuclear envelope assembly by phosphorylation of lamin B receptor. Mol Biol Cell. 2011 Sep;22(18):3306-17. doi: 10.1091/mbc.E11-03-0199. Epub 2011 Jul 27. PubMed citation
Waterham HR, Koster J, Mooyer P, Noort Gv Gv, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet. 2003 Apr;72(4):1013-7. Epub 2003 Feb 28. PubMed citation


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