Citations for
1LBR, NEDFLPH, TMEM147
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A.
Am J Hum Genet. Oct 6;109(10):1909-1922. doi: 10.1016/j.ajhg.2022.08.008. Epub 2022 Aug 30. 2022
2LBR, TMEM147
TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis
Christodoulou A, Maimaris G, Makrigiorgi A, Charidemou E, Lüchtenborg C, Ververis A, Georgiou R, Lederer CW, Haffner C, Brügger B, Santama N.
J Cell Sci. Aug 21;133(16):jcs245357. doi: 10.1242/jcs.245357. 2020
3AHCTF1, LBR
ELYS regulates the localization of LBR by modulating its phosphorylation state.
Mimura Y, Takagi M, Clever M, Imamoto N.
J Cell Sci 129(22):4200-4212. 2016
4LBR, LMNA
LBR and Lamin A/C Sequentially Tether Peripheral Heterochromatin and Inversely Regulate Differentiation.
Solovei I, Wang AS, Thanisch K, Schmidt CS, Krebs S, Zwerger M, Cohen TV, Devys D, Foisner R, Peichl L, Herrmann H, Blum H, Engelkamp D, Stewart CL, Leonhardt H, Joffe B.
Cell 152(3):584-98. doi: 10.1016/j.cell.2013.01.009. 2013
5LBR
Lamin B receptor recognizes specific modifications of histone H4 in heterochromatin formation.
Hirano Y, Hizume K, Kimura H, Takeyasu K, Haraguchi T, Hiraoka Y.
J Biol Chem 287(51):42654-63. doi: 10.1074/jbc.M112.397950. Epub 2012 Oct 25. 2012
6LBR
Lamin B receptor regulates the growth and maturation of myeloid progenitors via its sterol reductase domain: implications for cholesterol biosynthesis in regulating myelopoiesis.
Subramanian G, Chaudhury P, Malu K, Fowler S, Manmode R, Gotur D, Zwerger M, Ryan D, Roberti R, Gaines P.
J Immunol 188(1):85-102. doi: 10.4049/jimmunol.1003804. Epub 2011 Dec 2. 2012
7LBR
Reduced lymphocyte longevity and homeostatic proliferation in lamin B receptor-deficient mice results in profound and progressive lymphopenia.
Verhagen AM, de Graaf CA, Baldwin TM, Goradia A, Collinge JE, Kile BT, Metcalf D, Starr R, Hilton DJ.
J Immunol 188(1):122-34. doi: 10.4049/jimmunol.1100942. Epub 2011 Nov 21. 2012
8LBR
Solution structure and molecular interactions of lamin B receptor Tudor domain.
Liokatis S, Edlich C, Soupsana K, Giannios I, Panagiotidou P, Tripsianes K, Sattler M, Georgatos SD, Politou AS.
J Biol Chem 287(2):1032-42. doi: 10.1074/jbc.M111.281303. Epub 2011 Nov 3. 2012
9AHCTF1, LBR
The nucleoporin ELYS/Mel28 regulates nuclear envelope subdomain formation in HeLa cells.
Clever M, Funakoshi T, Mimura Y, Takagi M, Imamoto N.
Nucleus 3(2):187-99. doi: 10.4161/nucl.19595. 2012
10LBR
Temporal control of nuclear envelope assembly by phosphorylation of lamin B receptor.
Tseng LC, Chen RH.
Mol Biol Cell 22(18):3306-17. doi: 10.1091/mbc.E11-03-0199. Epub 2011 Jul 27. 2011
11LBR, RS
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.
Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Lévy N, De Sandre-Giovannoli A.
J Med Genet 47(6):361-70. 2010
12LBR
Lamin B receptor: multi-tasking at the nuclear envelope.
Olins AL, Rhodes G, Welch DB, Zwerger M, Olins DE.
Nucleus 1(1):53-70. doi: 10.4161/nucl.1.1.10515. Review. 2010
13HEMSK, LBR
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
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.
Nucleus 1(4):354-66. doi: 10.4161/nucl.1.4.12435. Epub 2010 May 21. 2010
14LBR
Requirement for lamin B receptor and its regulation by importin {beta} and phosphorylation in nuclear envelope assembly during mitotic exit.
Lu X, Shi Y, Lu Q, Ma Y, Luo J, Wang Q, Ji J, Jiang Q, Zhang C.
J Biol Chem 285(43):33281-93. doi: 10.1074/jbc.M110.102368. Epub 2010 Jun 24. 2010
15LBR, MECP2
Interaction between the inner nuclear membrane lamin B receptor and the heterochromatic methyl binding protein, MeCP2.
Guarda A, Bolognese F, Bonapace IM, Badaracco G.
Exp Cell Res 315(11):1895-903. doi: 10.1016/j.yexcr.2009.01.019. Epub 2009 Feb 2. 2009
16CEBPE, LBR, PHA
The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils.
Cohen TV, Klarmann KD, Sakchaisri K, Cooper JP, Kuhns D, Anver M, Johnson PF, Williams SC, Keller JR, Stewart CL.
Hum Mol Genet 17(19):2921-33. Epub 2008 Jul 11. 2008
17AGPS, ARSE, CDPX1, CDPX2A, CHILD, DHAPAT, EBP, GGCX, HEMSK, KES, LBR, MGP, NSHDL, PEX7, RCDP1, RCDP2, RCDP3, VKCFD2, VKORC1
Chondrodysplasia punctata: a clinical diagnostic and radiological review.
Irving MD, Chitty LS, Mansour S, Hall CM.
Clin Dysmorphol 17(4):229-41. 2008
18HEMSK,LBR,TM7SF2
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3{beta}-hydroxysterol {Delta}14-reductase deficiency.
Wassif CA, Brownson KE, Sterner AL, Forlino A, Zerfas PM, Wilson WK, Starost MF, Porter FD.
Hum Mol Genet 16(10):1176-87. Epub 2007 Apr 2. 2007
19LBR
Lamin B receptor plays a role in stimulating nuclear envelope production and targeting membrane vesicles to chromatin during nuclear envelope assembly through direct interaction with importin beta.
Ma Y, Cai S, Lv Q, Jiang Q, Zhang Q, Sodmergen, Zhai Z, Zhang C.
J Cell Sci 120(Pt 3):520-30. 2007
20LBR, PPP1CC
Nuclear envelope precursor vesicle targeting to chromatin is stimulated by protein phosphatase 1 in Xenopus egg extracts.
Ito H, Koyama Y, Takano M, Ishii K, Maeno M, Furukawa K, Horigome T.
Exp Cell Res 313(9):1897-910. Epub 2007 Mar 24.PMID: 17448463 2007
21HEMSK,LBR,TM7SF2
Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis.
Bennati AM, Castelli M, Della Fazia MA, Beccari T, Caruso D, Servillo G, Roberti R.
Biochim Biophys Acta 1761(7):677-85. Epub 2006 May 19. 2006
22LBR
The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain.
Lechner MS, Schultz DC, Negorev D, Maul GG, Rauscher FJ 3rd.
Biochem Biophys Res Commun 331(4):929-37. 2005
23LBR, PHA
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly.
Shultz LD, Lyons BL, Burzenski LM, Gott B, Samuels R, Schweitzer PA, Dreger C, Herrmann H, Kalscheuer V, Olins AL, Olins DE, Sperling K, Hoffmann K.
Hum Mol Genet 12(1):61-9. 2003
24HEMSK, LBR
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.
Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC.
Am J Hum Genet 72(4):1013-7. Epub 2003 Feb 28. 2003
25CYP51A1, DHCR24, EBP, DHCR7, DSMS, HEMSK, LBR, SC4MOL, SC5DL, SLOS
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
Herman GE.
Hum Mol Genet 12(Suppl 1):R75-88. 2003
26ATRX, DNMT3B, EMD, FSHMD1A, HR,LBR, LMNA, MECP2, NSD1, SMARCAL1
Perturbations of chromatin structure in human genetic disease: recent advances.
Bickmore WA, Van Der Maarel SM.
Hum Mol Genet 12 Suppl 2:R207-13. Epub 2003 Aug 05. 2003
27PHA, LBR, HEMSK
Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes.
Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC.
J Med Genet 40(12):937-41. Review. No abstract available. 2003
28PHA, LBR
Lamin B-receptor mutations in Pelger-Huet anomaly.
Best S, Salvati F, Kallo J, Garner C, Height S, Thein SL, Rees DC.
Br J Haematol 123(3):542-4. 2003
29LBR
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly).
Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, Karl H, Kaps R, Muller D, Vaya A, Aznar J, Ware RE, Sotelo Cruz N, Lindner TH, Herrmann H, Reis A, Sperling K.
Nat Genet 31(4):410-4. 2002
30LBR, DHCR7, TM7SF2
The human lamin B receptor/sterol reductase multigene family.
Holmer L, Pezhman A, Worman HJ.
Genomics 54 : 469-476. 1998
31LBR, LMNA, LMNB1
Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization.
Wydner KL, et al.
Genomics 32 : 474-478. 1996
32LBR
Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane.
Schuler E, et al.
J Biol Chem 269 : 11312-11317. 1994
33HEMSK, LBR
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
Chitayat D, Gruber H, Mullen BJ, Pauzner D, Costa T, Lachman R, Rimoin DL.
Am J Med Genet 47(2):272-7. Review. 1993
34LBR, RS
Primary biliary cirrhosis with scleroderma, Raynaud's phenomenon and telangiectasia. New syndrome.
Reynolds TB, Denison EK, Frankl HD, Lieberman FL, Peters RL.
Am J Med 50(3):302-12. No abstract available. 1971