Handford P - Search Results

1

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. Le Goff C, et al. Among authors: handford p. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.

2

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. Jensen SA, et al. Hum Mol Genet. 2015 Aug 1;24(15):4454-63. doi: 10.1093/hmg/ddv181. Epub 2015 May 15. Hum Mol Genet. 2015. PMID: 25979247 Free PMC article.

3

New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.

Jensen SA, Handford PA. Jensen SA, et al. Biochem J. 2016 Apr 1;473(7):827-38. doi: 10.1042/BJ20151108. Biochem J. 2016. PMID: 27026396 Review.

4

Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1.

Wilson BT, Jensen SA, McAnulty CP, Brennan P, Handford PA. Wilson BT, et al. Among authors: handford pa. Am J Med Genet A. 2013 Aug;161A(8):2047-51. doi: 10.1002/ajmg.a.36011. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794388

5

Molecular analysis of eight mutations in FBN1.

Halliday D, Hutchinson S, Kettle S, Firth H, Wordsworth P, Handford PA. Halliday D, et al. Among authors: handford pa. Hum Genet. 1999 Dec;105(6):587-97. doi: 10.1007/s004399900190. Hum Genet. 1999. PMID: 10647894

6

TB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs.

Robertson I, Jensen S, Handford P. Robertson I, et al. Among authors: handford p. Biochem J. 2011 Jan 15;433(2):263-76. doi: 10.1042/BJ20101320. Biochem J. 2011. PMID: 21175431 Review.

7

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Jensen SA, Atwa O, Handford PA. Jensen SA, et al. Among authors: handford pa. PLoS One. 2021 Mar 18;16(3):e0248532. doi: 10.1371/journal.pone.0248532. eCollection 2021. PLoS One. 2021. PMID: 33735269 Free PMC article.

8

Dissecting the fibrillin microfibril: structural insights into organization and function.

Jensen SA, Robertson IB, Handford PA. Jensen SA, et al. Structure. 2012 Feb 8;20(2):215-25. doi: 10.1016/j.str.2011.12.008. Structure. 2012. PMID: 22325771 Free article. Review.

9

C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.

Jensen SA, Aspinall G, Handford PA. Jensen SA, et al. Proc Natl Acad Sci U S A. 2014 Jul 15;111(28):10155-60. doi: 10.1073/pnas.1401697111. Epub 2014 Jun 30. Proc Natl Acad Sci U S A. 2014. PMID: 24982166 Free PMC article.

10

Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context.

McGettrick AJ, Knott V, Willis A, Handford PA. McGettrick AJ, et al. Among authors: handford pa. Hum Mol Genet. 2000 Aug 12;9(13):1987-94. doi: 10.1093/hmg/9.13.1987. Hum Mol Genet. 2000. PMID: 10942427

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