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Items: 1 to 20 of 57

1.

Ehlers-Danlos Syndrome, Kyphoscoliotic Form.

Yeowell HN, Steinmann B.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2000 Feb 2 [updated 2013 Jan 24].

2.

Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice.

Takaluoma K, Hyry M, Lantto J, Sormunen R, Bank RA, Kivirikko KI, Myllyharju J, Soininen R.

J Biol Chem. 2007 Mar 2;282(9):6588-96.

3.

Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK.

Tasker PN, Macdonald H, Fraser WD, Reid DM, Ralston SH, Albagha OM.

Osteoporos Int. 2006;17(7):1078-85.

PMID:
16758144
4.
5.

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

Walker LC, Overstreet MA, Siddiqui A, De Paepe A, Ceylaner G, Malfait F, Symoens S, Atsawasuwan P, Yamauchi M, Ceylaner S, Bank RA, Yeowell HN.

J Invest Dermatol. 2005 May;124(5):914-8.

6.

Retrieval-independent localization of lysyl hydroxylase in the endoplasmic reticulum via a peptide fold in its iron-binding domain.

Suokas M, Lampela O, Juffer AH, Myllylä R, Kellokumpu S.

Biochem J. 2003 Mar 15;370(Pt 3):913-20.

7.

Mechanism of inhibition of lysyl hydroxylase activity by the organophosphates malathion and malaoxon.

Samimi A, Last JA.

Toxicol Appl Pharmacol. 2001 Nov 1;176(3):181-6.

PMID:
11714250
8.

Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI.

Yeowell HN, Allen JD, Walker LC, Overstreet MA, Murad S, Thai SF.

Matrix Biol. 2000 Feb;19(1):37-46.

PMID:
10686424
9.

Identification of arginine-700 as the residue that binds the C-5 carboxyl group of 2-oxoglutarate in human lysyl hydroxylase 1.

Passoja K, Myllyharju J, Pirskanen A, Kivirikko KI.

FEBS Lett. 1998 Aug 28;434(1-2):145-8.

10.

Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C).

Brinckmann J, Açil Y, Feshchenko S, Katzer E, Brenner R, Kulozik A, Kügler S.

Arch Dermatol Res. 1998 Apr;290(4):181-6.

PMID:
9617436
12.

A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.

Hautala T, Heikkinen J, Kivirikko KI, Myllylä R.

Genomics. 1993 Feb;15(2):399-404.

PMID:
8449506
13.

A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

Ha VT, Marshall MK, Elsas LJ, Pinnell SR, Yeowell HN.

J Clin Invest. 1994 Apr;93(4):1716-21.

15.

Rat lysyl hydroxylase: molecular cloning, mRNA distribution and expression in a baculovirus system.

Armstrong LC, Last JA.

Biochim Biophys Acta. 1995 Oct 17;1264(1):93-102.

PMID:
7578263
16.

Characterization of collagen hydroxylysyl glycosyltransferases as mainly intramembranous microsomal enzymes.

Blumenkrantz N, Assad R, Peterkofsky B.

J Biol Chem. 1984 Jan 25;259(2):854-9.

17.

Crosslinking of collagen in a heritable disorder of connective tissue: Ehlers-Danlos syndrome.

Mechanic G.

Biochem Biophys Res Commun. 1972 Apr 14;47(1):267-72. No abstract available.

PMID:
5027136
18.

Molecular cloning of chick lysyl hydroxylase. Little homology in primary structure to the two types of subunit of prolyl 4-hydroxylase.

Myllylä R, Pihlajaniemi T, Pajunen L, Turpeenniemi-Hujanen T, Kivirikko KI.

J Biol Chem. 1991 Feb 15;266(5):2805-10.

19.

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.

Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R.

Nat Genet. 1992 Nov;2(3):228-31.

PMID:
1345174
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