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Results: 1 to 20 of 228

1.

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N.

Hum Mol Genet. 2004 Oct 15;13(20):2493-503. Epub 2004 Aug 18.

PMID:
15317753
[PubMed - indexed for MEDLINE]
Free Article
2.

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N.

Hum Mol Genet. 2005 Jun 1;14(11):1503-13. Epub 2005 Apr 20.

PMID:
15843403
[PubMed - indexed for MEDLINE]
Free Article
3.

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.

Moulson CL, Go G, Gardner JM, van der Wal AC, Smitt JH, van Hagen JM, Miner JH.

J Invest Dermatol. 2005 Nov;125(5):913-9.

PMID:
16297189
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.

Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T.

Hum Mutat. 2006 Jun;27(6):524-31.

PMID:
16671095
[PubMed - indexed for MEDLINE]
5.

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.

Sander CS, Salman N, van Geel M, Broers JL, Al-Rahmani A, Chedid F, Hausser I, Oji V, Al Nuaimi K, Berger TG, Verstraeten VL.

Br J Dermatol. 2008 Sep;159(4):961-7. doi: 10.1111/j.1365-2133.2008.08772.x. Epub 2008 Jul 30.

PMID:
18671782
[PubMed - indexed for MEDLINE]
6.

Defective prelamin A processing resulting from LMNA or ZMPSTE24 mutations as the cause of restrictive dermopathy.

Levy N, López-Otín C, Hennekam RC.

Arch Dermatol. 2005 Nov;141(11):1473-4; author reply 1474. No abstract available.

PMID:
16301408
[PubMed - indexed for MEDLINE]
7.

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

Agarwal AK, Fryns JP, Auchus RJ, Garg A.

Hum Mol Genet. 2003 Aug 15;12(16):1995-2001.

PMID:
12913070
[PubMed - indexed for MEDLINE]
Free Article
8.

Altered splicing in prelamin A-associated premature aging phenotypes.

De Sandre-Giovannoli A, Lévy N.

Prog Mol Subcell Biol. 2006;44:199-232. Review.

PMID:
17076270
[PubMed - indexed for MEDLINE]
9.

Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice.

Fong LG, Ng JK, Meta M, Coté N, Yang SH, Stewart CL, Sullivan T, Burghardt A, Majumdar S, Reue K, Bergo MO, Young SG.

Proc Natl Acad Sci U S A. 2004 Dec 28;101(52):18111-6. Epub 2004 Dec 17.

PMID:
15608054
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimarães H.

Eur J Pediatr. 2009 Aug;168(8):1007-12. doi: 10.1007/s00431-008-0868-x. Epub 2008 Nov 20. Review.

PMID:
19020898
[PubMed - indexed for MEDLINE]
11.

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.

Ahmad Z, Phadke SR, Arch E, Glass J, Agarwal AK, Garg A.

Clin Genet. 2012 Feb;81(2):158-64. doi: 10.1111/j.1399-0004.2010.01580.x. Epub 2010 Nov 25.

PMID:
21108632
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Laminopathies: multisystem dystrophy syndromes.

Jacob KN, Garg A.

Mol Genet Metab. 2006 Apr;87(4):289-302. Epub 2005 Dec 20. Review. Erratum in: Mol Genet Metab. 2006 Aug;88(4):391.

PMID:
16364671
[PubMed - indexed for MEDLINE]
13.

[A-type lamins and progeroïd syndromes : persistent farnesylation with dramatic effects].

Navarro CL, Poitelon Y, Lévy N.

Med Sci (Paris). 2008 Oct;24(10):833-40. doi: 10.1051/medsci/20082410833. Review. French.

PMID:
18950579
[PubMed - indexed for MEDLINE]
Free Article
14.

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.

Smigiel R, Jakubiak A, Esteves-Vieira V, Szela K, Halon A, Jurek T, Lévy N, De Sandre-Giovannoli A.

Am J Med Genet A. 2010 Feb;152A(2):447-52. doi: 10.1002/ajmg.a.33221.

PMID:
20101687
[PubMed - indexed for MEDLINE]
15.

Restrictive dermopathy in a Turkish newborn.

Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tüysüz B.

Pediatr Dermatol. 2011 Jul-Aug;28(4):408-11. doi: 10.1111/j.1525-1470.2010.01296.x. Epub 2010 Dec 2.

PMID:
21121943
[PubMed - indexed for MEDLINE]
16.

[Mutation of lamine A or the ZMPSTE 24 gene in restrictive dermopathy].

Dereure O.

Ann Dermatol Venereol. 2005 Nov;132(11 Pt 1):929. French. No abstract available.

PMID:
16327731
[PubMed - indexed for MEDLINE]
17.

Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress.

Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, Djabali K.

BMC Cell Biol. 2005 Jun 27;6:27.

PMID:
15982412
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.

Agarwal AK, Zhou XJ, Hall RK, Nicholls K, Bankier A, Van Esch H, Fryns JP, Garg A.

J Investig Med. 2006 May;54(4):208-13.

PMID:
17152860
[PubMed - indexed for MEDLINE]
19.

Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome.

Mallampalli MP, Huyer G, Bendale P, Gelb MH, Michaelis S.

Proc Natl Acad Sci U S A. 2005 Oct 4;102(40):14416-21. Epub 2005 Sep 26.

PMID:
16186497
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.

Cunningham VJ, D'Apice MR, Licata N, Novelli G, Cundy T.

Bone. 2010 Sep;47(3):591-7. doi: 10.1016/j.bone.2010.06.004. Epub 2010 Jun 13.

PMID:
20550970
[PubMed - indexed for MEDLINE]

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