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Items: 20

1.

Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.

Hebson C, Coleman K, Clabby M, Sallee D, Shankar S, Loeys B, Van Laer L, Kogon B.

Eur J Pediatr. 2014 May;173(5):671-5. doi: 10.1007/s00431-013-2217-y. Epub 2013 Nov 26. Review.

PMID:
24276535
2.

Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.

Urban Z, Davis EC.

Matrix Biol. 2014 Jan;33:16-22. doi: 10.1016/j.matbio.2013.07.006. Epub 2013 Aug 16. Review.

3.

Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.

Sawyer SL, Dicke F, Kirton A, Rajapkse T, Rebeyka IM, McInnes B, Parboosingh JS, Bernier FP.

Am J Med Genet A. 2013 May;161A(5):1148-53. doi: 10.1002/ajmg.a.35827. Epub 2013 Mar 26.

PMID:
23532871
4.

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.

Kappanayil M, Nampoothiri S, Kannan R, Renard M, Coucke P, Malfait F, Menon S, Ravindran HK, Kurup R, Faiyaz-Ul-Haque M, Kumar K, De Paepe A.

Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61.

5.

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A.

Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13.

6.

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, De Paepe AM, Loeys BL.

Eur J Hum Genet. 2010 Aug;18(8):895-901. doi: 10.1038/ejhg.2010.45. Epub 2010 Apr 14.

7.

Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression.

Huang J, Davis EC, Chapman SL, Budatha M, Marmorstein LY, Word RA, Yanagisawa H.

Circ Res. 2010 Feb 19;106(3):583-92. doi: 10.1161/CIRCRESAHA.109.207852. Epub 2009 Dec 17.

8.

Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase.

Horiguchi M, Inoue T, Ohbayashi T, Hirai M, Noda K, Marmorstein LY, Yabe D, Takagi K, Akama TO, Kita T, Kimura T, Nakamura T.

Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19029-34. doi: 10.1073/pnas.0908268106. Epub 2009 Oct 23.

9.

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.

Hoyer J, Kraus C, Hammersen G, Geppert JP, Rauch A.

Clin Genet. 2009 Sep;76(3):276-81. doi: 10.1111/j.1399-0004.2009.01204.x. Epub 2009 Aug 3.

PMID:
19664000
10.

Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.

Ono RN, Sengle G, Charbonneau NL, Carlberg V, Bächinger HP, Sasaki T, Lee-Arteaga S, Zilberberg L, Rifkin DB, Ramirez F, Chu ML, Sakai LY.

J Biol Chem. 2009 Jun 19;284(25):16872-81. doi: 10.1074/jbc.M809348200. Epub 2009 Apr 6.

11.

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S.

Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252. Epub 2008 Nov 9.

12.

Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.

Nanda A, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, Anim JT.

Pediatr Dermatol. 2008 Jan-Feb;25(1):66-71. doi: 10.1111/j.1525-1470.2007.00586.x. Review.

PMID:
18304158
13.

Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

Dasouki M, Markova D, Garola R, Sasaki T, Charbonneau NL, Sakai LY, Chu ML.

Am J Med Genet A. 2007 Nov 15;143A(22):2635-41.

PMID:
17937443
14.

A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization.

Kobayashi N, Kostka G, Garbe JH, Keene DR, Bächinger HP, Hanisch FG, Markova D, Tsuda T, Timpl R, Chu ML, Sasaki T.

J Biol Chem. 2007 Apr 20;282(16):11805-16. Epub 2007 Feb 26.

15.

Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice.

Hanada K, Vermeij M, Garinis GA, de Waard MC, Kunen MG, Myers L, Maas A, Duncker DJ, Meijers C, Dietz HC, Kanaar R, Essers J.

Circ Res. 2007 Mar 16;100(5):738-46. Epub 2007 Feb 9.

16.

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.

Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z.

Hum Mol Genet. 2006 Dec 1;15(23):3379-86. Epub 2006 Oct 11.

17.

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.

Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z.

Am J Hum Genet. 2006 Jun;78(6):1075-80. Epub 2006 Apr 10.

18.

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.

Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Yin Loke K, Kirk RC, Urban Z.

J Med Genet. 2006 Mar;43(3):255-8. Epub 2005 Aug 5.

19.
20.

The De Barsy syndrome.

Guerra D, Fornieri C, Bacchelli B, Lugli L, Torelli P, Balli F, Ferrari P.

J Cutan Pathol. 2004 Oct;31(9):616-24.

PMID:
15330994
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