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Items: 19

1.

RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.

Takashima S, Fujita Y, Suzuki S, Saito N, Shinkuma S, Nomura T, Shimizu H.

J Dermatol Sci. 2016 Mar;81(3):205-8. doi: 10.1016/j.jdermsci.2015.12.002. Epub 2015 Dec 11. No abstract available.

PMID:
26711937
2.

Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.

Zhang Q, Mo ZH, Dong CS, Yang F, Xie YH, Jin P.

J Endocrinol Invest. 2016 Jun;39(6):679-85. doi: 10.1007/s40618-015-0419-z. Epub 2015 Dec 22. Review.

PMID:
26694706
3.

Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.

Gutierrez D, Cooper KD, Mitchell AL, Cohn HI.

Pediatr Dermatol. 2015 Sep-Oct;32(5):e219-20. doi: 10.1111/pde.12634. Epub 2015 Jul 2.

PMID:
26135202
4.

Nuclear envelope protein MAN1 regulates clock through BMAL1.

Lin ST, Zhang L, Lin X, Zhang LC, Garcia VE, Tsai CW, Ptáček L, Fu YH.

Elife. 2014 Sep 2;3:e02981. doi: 10.7554/eLife.02981.

5.

Inhibition of TGF-β signaling at the nuclear envelope: characterization of interactions between MAN1, Smad2 and Smad3, and PPM1A.

Bourgeois B, Gilquin B, Tellier-Lebègue C, Östlund C, Wu W, Pérez J, El Hage P, Lallemand F, Worman HJ, Zinn-Justin S.

Sci Signal. 2013 Jun 18;6(280):ra49. doi: 10.1126/scisignal.2003411.

6.

No interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA.

Huang Y, Cai M, Clore GM, Craigie R.

PLoS One. 2011;6(9):e25123. doi: 10.1371/journal.pone.0025123. Epub 2011 Sep 22.

7.

Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.

Burger B, Hershkovitz D, Indelman M, Kovac M, Galambos J, Haeusermann P, Sprecher E, Itin PH.

Eur J Dermatol. 2010 Nov-Dec;20(6):693-7. doi: 10.1684/ejd.2010.1051. Epub 2010 Aug 24.

PMID:
20732851
8.

Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3.

Yuste-Chaves M, Cañueto J, Santos-Briz Á, Ciria S, González-Sarmiento R, Unamuno P.

Pediatr Dermatol. 2011 Jul-Aug;28(4):447-50. doi: 10.1111/j.1525-1470.2010.01206.x. Epub 2010 Jul 29.

PMID:
20678097
9.

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.

Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S.

BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110.

10.

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

Yadegari M, Whyte MP, Mumm S, Phelps RG, Shanske A, Totty WG, Cohen SR.

Arch Dermatol. 2010 Jan;146(1):63-8. doi: 10.1001/archdermatol.2009.320.

PMID:
20083694
11.

Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.

Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP.

Clin Genet. 2009 Jun;75(6):556-61. doi: 10.1111/j.1399-0004.2009.01177.x. Epub 2009 May 5. Erratum in: Clin Genet. 2011 Apr;79(4):401.

PMID:
19438932
12.

A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.

Couto AR, Bruges-Armas J, Peach CA, Chapman K, Brown MA, Wordsworth BP, Zhang Y.

Calcif Tissue Int. 2007 Aug;81(2):81-4. Epub 2007 Jul 11.

PMID:
17622481
13.

A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome.

Kobayashi H, Kasahara M, Hino M, Takahara S, Ikeda K, Son C, Iwakura T, Matsuoka N, Yoshimoto A, Ohgo N, Kasai R, Ishihara T, Ogawa Y.

J Endocrinol Invest. 2007 Mar;30(3):263-5. No abstract available.

PMID:
17505164
14.

Familial cutaneous collagenomas resulting from a novel mutation in LEMD3.

Hershkovitz D, Amitai B, Sprecher E.

Br J Dermatol. 2007 Feb;156(2):375-7. No abstract available. Erratum in: Br J Dermatol. 2007 Mar;156(3):612. Amitai, D B [corrected to Amitai, B].

PMID:
17223882
15.

The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain.

Caputo S, Couprie J, Duband-Goulet I, Kondé E, Lin F, Braud S, Gondry M, Gilquin B, Worman HJ, Zinn-Justin S.

J Biol Chem. 2006 Jun 30;281(26):18208-15. Epub 2006 Apr 28.

16.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR.

Hum Mutat. 2006 Mar;27(3):290.

PMID:
16470551
17.
18.

The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines.

Pan D, Estévez-Salmerón LD, Stroschein SL, Zhu X, He J, Zhou S, Luo K.

J Biol Chem. 2005 Apr 22;280(16):15992-6001. Epub 2005 Jan 12.

19.

MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling.

Lin F, Morrison JM, Wu W, Worman HJ.

Hum Mol Genet. 2005 Feb 1;14(3):437-45. Epub 2004 Dec 15.

PMID:
15601644

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