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Items: 8

1.

Metalloproteases meprin α and meprin β are C- and N-procollagen proteinases important for collagen assembly and tensile strength.

Broder C, Arnold P, Vadon-Le Goff S, Konerding MA, Bahr K, Müller S, Overall CM, Bond JS, Koudelka T, Tholey A, Hulmes DJ, Moali C, Becker-Pauly C.

Proc Natl Acad Sci U S A. 2013 Aug 27;110(35):14219-24. doi: 10.1073/pnas.1305464110. Epub 2013 Aug 12.

2.

Characterization of the six zebrafish clade B fibrillar procollagen genes, with evidence for evolutionarily conserved alternative splicing within the pro-alpha1(V) C-propeptide.

Hoffman GG, Branam AM, Huang G, Pelegri F, Cole WG, Wenstrup RM, Greenspan DS.

Matrix Biol. 2010 May;29(4):261-75. doi: 10.1016/j.matbio.2010.01.006. Epub 2010 Jan 25.

3.

Development of a functional skin matrix requires deposition of collagen V heterotrimers.

Chanut-Delalande H, Bonod-Bidaud C, Cogne S, Malbouyres M, Ramirez F, Fichard A, Ruggiero F.

Mol Cell Biol. 2004 Jul;24(13):6049-57.

5.

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH.

Am J Hum Genet. 2000 Jun;66(6):1757-65. Epub 2000 May 4.

6.

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG.

Am J Hum Genet. 2000 Jun;66(6):1766-76. Epub 2000 Apr 24.

7.

Ehlers-Danlos syndrome has varied molecular mechanisms.

Pope FM, Burrows NP.

J Med Genet. 1997 May;34(5):400-10. Review. No abstract available.

8.

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM.

Am J Hum Genet. 1997 Mar;60(3):547-54.

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