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Items: 1 to 20 of 111

1.

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. 2010 Jun;47(6):361-70. doi: 10.1136/jmg.2009.071696.

PMID:
20522425
3.

Single-nucleotide polymorphisms of the nuclear lamina proteome.

Hegele RA, Yuen J, Cao H.

J Hum Genet. 2001;46(6):351-4.

PMID:
11393540
4.

Human autoantibodies to lamin B receptor are also anti-idiotypic to certain anti-lamin B antibodies.

Lassoued K, Danon F, Brouet JC.

Eur J Immunol. 1991 Aug;21(8):1959-62.

PMID:
1651247
5.
8.

LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.

Gaudy-Marqueste C, Boyer A, Navarro C, Rouzier C, Harley JR, Weiller PJ, Grob JJ, Levy N, De Sandre-Giovannoli A.

Genet Test Mol Biomarkers. 2009 Oct;13(5):635-9. doi: 10.1089/gtmb.2009.0021.

PMID:
19645629
10.

Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization.

Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB.

Genomics. 1996 Mar 15;32(3):474-8.

PMID:
8838815
11.

Structural and functional characterization of the zebrafish lamin B receptor.

Schild-Prüfert K, Giegerich M, Schäfer M, Winkler C, Krohne G.

Eur J Cell Biol. 2006 Aug;85(8):813-24. Epub 2006 Jun 6.

PMID:
16759737
12.

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
13.

Velcro in the nuclear envelope: LBR and LAPs.

Chu A, Rassadi R, Stochaj U.

FEBS Lett. 1998 Dec 18;441(2):165-9. Review.

14.

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
15.

LBR, a chromatin and lamin binding protein from the inner nuclear membrane, is proteolyzed at late stages of apoptosis.

Duband-Goulet I, Courvalin JC, Buendia B.

J Cell Sci. 1998 May;111 ( Pt 10):1441-51.

16.

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM.

Hum Mol Genet. 2007 Dec 1;16(23):2816-33. Epub 2007 Aug 29.

PMID:
17761684
17.

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
18.

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.

19.

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.

Vigouroux C, Auclair M, Dubosclard E, Pouchelet M, Capeau J, Courvalin JC, Buendia B.

J Cell Sci. 2001 Dec;114(Pt 24):4459-68.

20.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Epub 2002 Jan 17. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

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