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566 related items for PubMed ID: 25762570
1. 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. PubMed ID: 25762570 [Abstract] [Full Text] [Related]
2. Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia. Hubmacher D, Taye N, Balic Z, Thacker S, Adams SM, Birk DE, Schweitzer R, Apte SS. Matrix Biol; 2019 Sep; 82():38-53. PubMed ID: 30738849 [Abstract] [Full Text] [Related]
3. Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function. Hubmacher D, Apte SS. Cell Mol Life Sci; 2011 Oct; 68(19):3137-48. PubMed ID: 21858451 [Abstract] [Full Text] [Related]
4. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Am J Hum Genet; 2011 Jul 15; 89(1):7-14. PubMed ID: 21683322 [Abstract] [Full Text] [Related]
5. ADAMTS proteins as modulators of microfibril formation and function. Hubmacher D, Apte SS. Matrix Biol; 2015 Sep 15; 47():34-43. PubMed ID: 25957949 [Abstract] [Full Text] [Related]
6. From tall to short: the role of TGFβ signaling in growth and its disorders. Le Goff C, Cormier-Daire V. Am J Med Genet C Semin Med Genet; 2012 Aug 15; 160C(3):145-53. PubMed ID: 22791552 [Abstract] [Full Text] [Related]
8. Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect. Piccolo P, Sabatino V, Mithbaokar P, Polishchuk E, Hicks J, Polishchuk R, Bacino CA, Brunetti-Pierri N. Mol Genet Genomic Med; 2019 Sep 15; 7(9):e844. PubMed ID: 31350823 [Abstract] [Full Text] [Related]
9. O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations. Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS. J Biol Chem; 2020 Nov 13; 295(46):15742-15753. PubMed ID: 32913123 [Abstract] [Full Text] [Related]
10. The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation? Sengle G, Sakai LY. Matrix Biol; 2015 Sep 13; 47():3-12. PubMed ID: 25957947 [Abstract] [Full Text] [Related]
11. An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. Bader HL, Ruhe AL, Wang LW, Wong AK, Walsh KF, Packer RA, Mitelman J, Robertson KR, O'Brien DP, Broman KW, Shelton GD, Apte SS, Neff MW. PLoS One; 2010 Sep 17; 5(9):. PubMed ID: 20862248 [Abstract] [Full Text] [Related]
12. Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome. Beene LC, Wang LW, Hubmacher D, Keene DR, Reinhardt DP, Annis DS, Mosher DF, Mecham RP, Traboulsi EI, Apte SS. Invest Ophthalmol Vis Sci; 2013 Dec 23; 54(13):8337-44. PubMed ID: 24265020 [Abstract] [Full Text] [Related]
13. New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies. Jensen SA, Handford PA. Biochem J; 2016 Apr 01; 473(7):827-38. PubMed ID: 27026396 [Abstract] [Full Text] [Related]
14. Mutant fibrillin 1 from tight skin mice increases extracellular matrix incorporation of microfibril-associated glycoprotein 2 and type I collagen. Lemaire R, Farina G, Kissin E, Shipley JM, Bona C, Korn JH, Lafyatis R. Arthritis Rheum; 2004 Mar 01; 50(3):915-26. PubMed ID: 15022335 [Abstract] [Full Text] [Related]
15. 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 01; 24(15):4454-63. PubMed ID: 25979247 [Abstract] [Full Text] [Related]
16. Fibrillin in Marfan syndrome and tight skin mice provides new insights into transforming growth factor-beta regulation and systemic sclerosis. Lemaire R, Bayle J, Lafyatis R. Curr Opin Rheumatol; 2006 Nov 01; 18(6):582-7. PubMed ID: 17053502 [Abstract] [Full Text] [Related]
17. Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage. Wang LW, Kutz WE, Mead TJ, Beene LC, Singh S, Jenkins MW, Reinhardt DP, Apte SS. Matrix Biol; 2019 Apr 01; 77():117-128. PubMed ID: 30201140 [Abstract] [Full Text] [Related]
18. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. J Med Genet; 2016 Jul 01; 53(7):457-64. PubMed ID: 27068007 [Abstract] [Full Text] [Related]
19. Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. Ben-Salem S, Hertecant J, Al-Shamsi AM, Ali BR, Al-Gazali L. Birth Defects Res A Clin Mol Teratol; 2013 Dec 01; 97(12):764-9. PubMed ID: 24014090 [Abstract] [Full Text] [Related]
20. Development, composition, and structural arrangements of the ciliary zonule of the mouse. Shi Y, Tu Y, De Maria A, Mecham RP, Bassnett S. Invest Ophthalmol Vis Sci; 2013 Apr 01; 54(4):2504-15. PubMed ID: 23493297 [Abstract] [Full Text] [Related] Page: [Next] [New Search]