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Items: 1 to 20 of 39

1.

ADAM and ADAMTS Family Proteins and Snake Venom Metalloproteinases: A Structural Overview.

Takeda S.

Toxins (Basel). 2016 May 17;8(5). pii: E155. doi: 10.3390/toxins8050155. Review.

2.

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

Desai A, Connolly JJ, March M, Hou C, Chiavacci R, Kim C, Lyon G, Hadley D, Hakonarson H.

BMC Musculoskelet Disord. 2016 Feb 16;17:80. doi: 10.1186/s12891-016-0936-8.

3.

A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Jensen SA, Iqbal S, Bulsiewicz A, Handford PA.

Hum Mol Genet. 2015 Aug 1;24(15):4454-63. doi: 10.1093/hmg/ddv181. Epub 2015 May 15.

4.

ADAMTS proteins as modulators of microfibril formation and function.

Hubmacher D, Apte SS.

Matrix Biol. 2015 Sep;47:34-43. doi: 10.1016/j.matbio.2015.05.004. Epub 2015 May 7. Review.

5.

Chondrodysplasias and TGFβ signaling.

Le Goff C, Cormier-Daire V.

Bonekey Rep. 2015 Mar 11;4:642. doi: 10.1038/bonekey.2015.9. eCollection 2015. Review.

6.

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.

Hubmacher D, Wang LW, Mecham RP, Reinhardt DP, Apte SS.

Dis Model Mech. 2015 May;8(5):487-99. doi: 10.1242/dmm.017046. Epub 2015 Mar 11.

7.

Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.

Vasudevan D, Takeuchi H, Johar SS, Majerus E, Haltiwanger RS.

Curr Biol. 2015 Feb 2;25(3):286-95. doi: 10.1016/j.cub.2014.11.049. Epub 2014 Dec 24.

8.

Elevated transforming growth factor β1 in plasma of primary open-angle glaucoma patients.

Kuchtey J, Kunkel J, Burgess LG, Parks MB, Brantley MA Jr, Kuchtey RW.

Invest Ophthalmol Vis Sci. 2014 Jul 24;55(8):5291-7. doi: 10.1167/iovs.14-14578.

9.

The microfibril hypothesis of glaucoma: implications for treatment of elevated intraocular pressure.

Kuchtey J, Kuchtey RW.

J Ocul Pharmacol Ther. 2014 Mar-Apr;30(2-3):170-80. doi: 10.1089/jop.2013.0184. Epub 2014 Feb 12. Review.

10.

Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate.

Yu J, Urban J.

J Anat. 2013 Dec;223(6):641-50. doi: 10.1111/joa.12123. Epub 2013 Oct 9.

11.

The conserved ADAMTS-like protein lonely heart mediates matrix formation and cardiac tissue integrity.

Drechsler M, Schmidt AC, Meyer H, Paululat A.

PLoS Genet. 2013;9(7):e1003616. doi: 10.1371/journal.pgen.1003616. Epub 2013 Jul 11.

12.

E-selectin ligand 1 regulates bone remodeling by limiting bioactive TGF-β in the bone microenvironment.

Yang T, Grafe I, Bae Y, Chen S, Chen Y, Bertin TK, Jiang MM, Ambrose CG, Lee B.

Proc Natl Acad Sci U S A. 2013 Apr 30;110(18):7336-41. doi: 10.1073/pnas.1219748110. Epub 2013 Apr 15.

13.

Next-generation sequencing for disorders of low and high bone mineral density.

Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH.

Osteoporos Int. 2013 Aug;24(8):2253-9. doi: 10.1007/s00198-013-2290-0. Epub 2013 Feb 27.

14.

A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module.

Bader HL, Wang LW, Ho JC, Tran T, Holden P, Fitzgerald J, Atit RP, Reinhardt DP, Apte SS.

Matrix Biol. 2012 Sep-Oct;31(7-8):398-411. doi: 10.1016/j.matbio.2012.09.003. Epub 2012 Sep 23.

15.

Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy.

Van Laer L, Proost D, Loeys BL.

Eur J Pediatr. 2013 Aug;172(8):997-1005. doi: 10.1007/s00431-012-1773-x. Epub 2012 Jul 17. Review.

16.

Matrix-dependent perturbation of TGFβ signaling and disease.

Doyle JJ, Gerber EE, Dietz HC.

FEBS Lett. 2012 Jul 4;586(14):2003-15. doi: 10.1016/j.febslet.2012.05.027. Epub 2012 May 26. Review.

17.

Genetic architecture of body size in mammals.

Kemper KE, Visscher PM, Goddard ME.

Genome Biol. 2012;13(4):244. Review.

18.

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M.

Am J Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011.

19.

Microenvironmental regulation by fibrillin-1.

Sengle G, Tsutsui K, Keene DR, Tufa SF, Carlson EJ, Charbonneau NL, Ono RN, Sasaki T, Wirtz MK, Samples JR, Fessler LI, Fessler JH, Sekiguchi K, Hayflick SJ, Sakai LY.

PLoS Genet. 2012 Jan;8(1):e1002425. doi: 10.1371/journal.pgen.1002425. Epub 2012 Jan 5.

20.

LTBPs, more than just an escort service.

Todorovic V, Rifkin DB.

J Cell Biochem. 2012 Feb;113(2):410-8. doi: 10.1002/jcb.23385. Review.

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