LBR Gene

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1		Dean Liu	+ 631 word(s)	631	2020-12-15 07:59:13

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Liu, D. LBR Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4377 (accessed on 27 September 2026).

Liu D. LBR Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4377. Accessed September 27, 2026.

Liu, Dean. "LBR Gene" Encyclopedia, https://encyclopedia.pub/entry/4377 (accessed September 27, 2026).

Liu, D. (2020, December 23). LBR Gene. In Encyclopedia. https://encyclopedia.pub/entry/4377

Liu, Dean. "LBR Gene." Encyclopedia. Web. 23 December, 2020.

LBR Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/lbr

Lamin B receptor

genes

References

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 enzymaticfrom structural functions of a nuclear membrane protein. Nucleus. 2010Jul-Aug;1(4):354-66. doi: 10.4161/nucl.1.4.12435.
Duband-Goulet I, Courvalin JC. Inner nuclear membrane protein LBRpreferentially interacts with DNA secondary structures and nucleosomal linker.Biochemistry. 2000 May 30;39(21):6483-8.
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, ReisA, Sperling K. Mutations in the gene encoding the lamin B receptor produce analtered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet. 2002Aug;31(4):410-4.
Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC.Congenital abnormalities reported in Pelger-Huët homozygosity as compared toGreenberg/HEM dysplasia: highly variable expression of allelic phenotypes. J Med Genet. 2003 Dec;40(12):937-41. Review.
Silve S, Dupuy PH, Ferrara P, Loison G. Human lamin B receptor exhibits sterolC14-reductase activity in Saccharomyces cerevisiae. Biochim Biophys Acta. 1998Jun 15;1392(2-3):233-44.
Tseng LC, Chen RH. Temporal control of nuclear envelope assembly byphosphorylation of lamin B receptor. Mol Biol Cell. 2011 Sep;22(18):3306-17. doi:10.1091/mbc.E11-03-0199.
Waterham HR, Koster J, Mooyer P, Noort Gv Gv, Kelley RI, Wilcox WR, WandersRJ, Hennekam RC, Oosterwijk JC. Autosomal recessive HEM/Greenberg skeletaldysplasia 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.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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