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Results: 1 to 20 of 107

1.

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. 2010 Jul-Aug;1(4):354-66. doi: 10.4161/nucl.1.4.12435. Epub 2010 May 21.

PMID:
21327084
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM.

Am J Med Genet A. 2013 Aug;161A(8):2066-73. doi: 10.1002/ajmg.a.36019. Epub 2013 Jul 3.

PMID:
23824842
[PubMed - indexed for MEDLINE]
3.

The danger of "multi-tasking": LBR out of control.

Herrmann H, Zwerger M.

Nucleus. 2010 Jul-Aug;1(4):319-24. doi: 10.4161/nucl.1.4.11801. Epub 2010 Mar 16.

PMID:
21327079
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).

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.

Nat Genet. 2002 Aug;31(4):410-4. Epub 2002 Jul 15.

PMID:
12118250
[PubMed - indexed for MEDLINE]
5.

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. 2008 Oct 1;17(19):2921-33. doi: 10.1093/hmg/ddn191. Epub 2008 Jul 11.

PMID:
18621876
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.

Zwerger M, Kolb T, Richter K, Karakesisoglou I, Herrmann H.

Mol Biol Cell. 2010 Jan 15;21(2):354-68. doi: 10.1091/mbc.E09-08-0739. Epub 2009 Nov 25.

PMID:
19940018
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët 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. 2003 Jan 1;12(1):61-9.

PMID:
12490533
[PubMed - indexed for MEDLINE]
Free Article
8.

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 Gv, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC.

Am J Hum Genet. 2003 Apr;72(4):1013-7. Epub 2003 Feb 28.

PMID:
12618959
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Lamin B-receptor mutations in Pelger-Huët anomaly.

Best S, Salvati F, Kallo J, Garner C, Height S, Thein SL, Rees DC.

Br J Haematol. 2003 Nov;123(3):542-4.

PMID:
14617022
[PubMed - indexed for MEDLINE]
10.

[Nuclear abnormalities in Pelger-Huet anomaly; progress in blood cell morphology].

Tomonaga M.

Rinsho Byori. 2005 Jan;53(1):54-60. Review. Japanese.

PMID:
15724491
[PubMed - indexed for MEDLINE]
11.

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.

Wassif CA, Brownson KE, Sterner AL, Forlino A, Zerfas PM, Wilson WK, Starost MF, Porter FD.

Hum Mol Genet. 2007 May 15;16(10):1176-87. Epub 2007 Apr 2.

PMID:
17403717
[PubMed - indexed for MEDLINE]
Free Article
12.

An in vitro model for Pelger-Huët anomaly: stable knockdown of lamin B receptor in HL-60 cells.

Olins AL, Ernst A, Zwerger M, Herrmann H, Olins DE.

Nucleus. 2010 Nov-Dec;1(6):506-12. doi: 10.4161/nucl.1.6.13271. Epub 2010 Aug 6.

PMID:
21327094
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The granulocyte nucleus and lamin B receptor: avoiding the ovoid.

Hoffmann K, Sperling K, Olins AL, Olins DE.

Chromosoma. 2007 Jun;116(3):227-35. Epub 2007 Jan 24. Review.

PMID:
17245605
[PubMed - indexed for MEDLINE]
14.

Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae.

Silve S, Dupuy PH, Ferrara P, Loison G.

Biochim Biophys Acta. 1998 Jun 15;1392(2-3):233-44.

PMID:
9630650
[PubMed - indexed for MEDLINE]
Free Article
15.

The lamin B receptor of Drosophila melanogaster.

Wagner N, Weber D, Seitz S, Krohne G.

J Cell Sci. 2004 Apr 15;117(Pt 10):2015-28. Epub 2004 Mar 30.

PMID:
15054108
[PubMed - indexed for MEDLINE]
Free Article
16.

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. 2012 Jan 1;188(1):85-102. doi: 10.4049/jimmunol.1003804. Epub 2011 Dec 2.

PMID:
22140257
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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. 2006 Jul;1761(7):677-85. Epub 2006 May 19.

PMID:
16784888
[PubMed - indexed for MEDLINE]
Free Article
18.

Granulocytic nuclear differentiation of lamin B receptor-deficient mouse EPRO cells.

Zwerger M, Herrmann H, Gaines P, Olins AL, Olins DE.

Exp Hematol. 2008 Aug;36(8):977-87. doi: 10.1016/j.exphem.2008.03.003. Epub 2008 May 20.

PMID:
18495328
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Components of the nuclear envelope and their role in human disease.

Worman HJ.

Novartis Found Symp. 2005;264:35-42; discussion 42-50, 227-30. Review.

PMID:
15773746
[PubMed - indexed for MEDLINE]
20.

Dosage effect of zero to three functional LBR-genes in vivo and in vitro.

Gravemann S, Schnipper N, Meyer H, Vaya A, Nowaczyk MJ, Rajab A, Hofmann WK, Salewsky B, Tönnies H, Neitzel H, Stassen HH, Sperling K, Hoffmann K.

Nucleus. 2010 Mar-Apr;1(2):179-89. doi: 10.4161/nucl.1.2.11113. Epub 2010 Jan 3.

PMID:
21326950
[PubMed - indexed for MEDLINE]
Free PMC Article

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