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Items: 1 to 20 of 62

1.

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.

Abdalla EM, Rohrbach M, Bürer C, Kraenzlin M, El-Tayeby H, Elbelbesy MF, Nabil A, Giunta C.

Eur J Pediatr. 2015 Jan;174(1):105-12. doi: 10.1007/s00431-014-2429-9. Epub 2014 Oct 3.

PMID:
25277362
2.

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].

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. Epub 2006 May 4.

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.

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
8.

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.

9.

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
11.

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
12.

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.

14.

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.

15.

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
16.

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
18.

Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.

Steinmann B, Gitzelmann R, Vogel A, Grant ME, Harwood R, Sear CH.

Helv Paediatr Acta. 1975 Oct;30(3):255-74.

PMID:
1184396
19.
20.

Microvascular procedures in reconstructive surgery.

Lanier VC Jr, Serafin D, Kleinert HF, Kutz JE, Atasoy E, Lister G.

South Med J. 1976 Dec;69(12):1595-7.

PMID:
798297

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