Cohn DH - Search Results

1

An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.

Bogaert R, Tiller GE, Weis MA, Gruber HE, Rimoin DL, Cohn DH, Eyre DR. Bogaert R, et al. Among authors: cohn dh. J Biol Chem. 1992 Nov 5;267(31):22522-6. J Biol Chem. 1992. PMID: 1429602 Free article.

2

Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.

Cohn DH, Apone S, Eyre DR, Starman BJ, Andreassen P, Charbonneau H, Nicholls AC, Pope FM, Byers PH. Cohn DH, et al. J Biol Chem. 1988 Oct 15;263(29):14605-7. J Biol Chem. 1988. PMID: 3170557 Free article.

3

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

Bogaert R, Wilkin D, Wilcox WR, Lachman R, Rimoin D, Cohn DH, Eyre DR. Bogaert R, et al. Among authors: cohn dh. Am J Hum Genet. 1994 Dec;55(6):1128-36. Am J Hum Genet. 1994. PMID: 7977371 Free PMC article.

4

Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.

Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR. Weis MA, et al. Among authors: cohn dh. J Biol Chem. 1998 Feb 20;273(8):4761-8. doi: 10.1074/jbc.273.8.4761. J Biol Chem. 1998. PMID: 9468540 Free article.

5

Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.

Fernandes RJ, Wilkin DJ, Weis MA, Wilcox WR, Cohn DH, Rimoin DL, Eyre DR. Fernandes RJ, et al. Among authors: cohn dh. Arch Biochem Biophys. 1998 Jul 15;355(2):282-90. doi: 10.1006/abbi.1998.0745. Arch Biochem Biophys. 1998. PMID: 9675039

6

Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis.

Fernandes RJ, Hirohata S, Engle JM, Colige A, Cohn DH, Eyre DR, Apte SS. Fernandes RJ, et al. Among authors: cohn dh. J Biol Chem. 2001 Aug 24;276(34):31502-9. doi: 10.1074/jbc.M103466200. Epub 2001 Jun 14. J Biol Chem. 2001. PMID: 11408482 Free article.

7

Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly.

Hudson DM, Kim LS, Weis M, Cohn DH, Eyre DR. Hudson DM, et al. Among authors: cohn dh. Biochemistry. 2012 Mar 27;51(12):2417-24. doi: 10.1021/bi2019139. Epub 2012 Mar 15. Biochemistry. 2012. PMID: 22380708 Free PMC article.

8

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR. Tiller GE, et al. Among authors: cohn dh. Nat Genet. 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87. Nat Genet. 1995. PMID: 7550321

9

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.

Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH. Mortier GR, et al. Among authors: cohn dh. Hum Mol Genet. 1995 Feb;4(2):285-8. doi: 10.1093/hmg/4.2.285. Hum Mol Genet. 1995. PMID: 7757081

10

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

Tiller GE, Weis MA, Polumbo PA, Gruber HE, Rimoin DL, Cohn DH, Eyre DR. Tiller GE, et al. Among authors: cohn dh. Am J Hum Genet. 1995 Feb;56(2):388-95. Am J Hum Genet. 1995. PMID: 7847372 Free PMC article.

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