148 related articles for article (PubMed ID: 9450904)
1. A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
Pousi B; Hautala T; Hyland JC; Schröter J; Eckes B; Kivirikko KI; Myllylä R
Hum Mutat; 1998; 11(1):55-61. PubMed ID: 9450904
[TBL] [Abstract][Full Text] [Related]
2. A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI.
Heikkinen J; Pousi B; Pope M; Myllylä R
Hum Mutat; 1999 Oct; 14(4):351. PubMed ID: 10502784
[TBL] [Abstract][Full Text] [Related]
3. Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
Yeowell HN; Walker LC
Proc Assoc Am Physicians; 1997 Jul; 109(4):383-96. PubMed ID: 9220536
[TBL] [Abstract][Full Text] [Related]
4. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.
Yeowell HN; Walker LC
Mol Genet Metab; 2000; 71(1-2):212-24. PubMed ID: 11001813
[TBL] [Abstract][Full Text] [Related]
5. Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
Heikkinen J; Hautala T; Kivirikko KI; Myllylä R
Genomics; 1994 Dec; 24(3):464-71. PubMed ID: 7713497
[TBL] [Abstract][Full Text] [Related]
6. A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene.
Walker LC; Marini JC; Grange DK; Filie J; Yeowell HN
Mol Genet Metab; 1999 May; 67(1):74-82. PubMed ID: 10329027
[TBL] [Abstract][Full Text] [Related]
7. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.
Yeowell HN; Walker LC; Farmer B; Heikkinen J; Myllyla R
Hum Mutat; 2000 Jul; 16(1):90. PubMed ID: 10874315
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 8449506
[TBL] [Abstract][Full Text] [Related]
9. The mRNA and the activity of lysyl hydroxylase are up-regulated by the administration of ascorbate and hydralazine to human skin fibroblasts from a patient with Ehlers-Danlos syndrome type VI.
Yeowell HN; Walker LC; Marshall MK; Murad S; Pinnell SR
Arch Biochem Biophys; 1995 Aug; 321(2):510-6. PubMed ID: 7646078
[TBL] [Abstract][Full Text] [Related]
10. An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.
Yeowell HN; Walker LC; Neumann LM
Eur J Dermatol; 2005; 15(5):353-8. PubMed ID: 16172044
[TBL] [Abstract][Full Text] [Related]
11. A common duplication in the lysyl hydroxylase gene of patients with Ehlers Danlos syndrome type VI results in preferential stimulation of lysyl hydroxylase activity and mRNA by hydralazine.
Yeowell HN; Walker LC; Murad S; Pinnell SR
Arch Biochem Biophys; 1997 Nov; 347(1):126-31. PubMed ID: 9344473
[TBL] [Abstract][Full Text] [Related]
12. A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI.
Pajunen L; Suokas M; Hautala T; Kellokumpu S; Tebbe B; Kivirikko KI; Myllylä R
DNA Cell Biol; 1998 Feb; 17(2):117-23. PubMed ID: 9502428
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 1345174
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 8163671
[TBL] [Abstract][Full Text] [Related]
15. Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome.
Rauma T; Kumpumäki S; Anderson R; Davidson BL; Ruotsalainen H; Myllylä R; Hautala T
J Invest Dermatol; 2001 Apr; 116(4):602-5. PubMed ID: 11286629
[TBL] [Abstract][Full Text] [Related]
16. Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.
Walker LC; Teebi AS; Marini JC; De Paepe A; Malfait F; Atsawasuwan P; Yamauchi M; Yeowell HN
Mol Genet Metab; 2004 Dec; 83(4):312-21. PubMed ID: 15589118
[TBL] [Abstract][Full Text] [Related]
17. A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI.
Pousi B; Heikkinen J; Schröter J; Pope M; Myllylä R
Mutat Res; 2000 Feb; 432(1-2):33-7. PubMed ID: 10729709
[TBL] [Abstract][Full Text] [Related]
18. A case of Ehlers Danlos syndrome type VI.
Salavoura K; Valari M; Kolialexi A; Mavrou A; Kitsiou S
Genet Couns; 2006; 17(3):291-4. PubMed ID: 17100196
[TBL] [Abstract][Full Text] [Related]
19. Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.
Thakker-Varia S; Anderson DW; Kuivaniemi H; Tromp G; Shin HG; van der Rest M; Glorieux FH; Ala-Kokko L; Stolle CA
Hum Mutat; 1995; 6(2):116-25. PubMed ID: 7581395
[TBL] [Abstract][Full Text] [Related]
20. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.
Heikkinen J; Toppinen T; Yeowell H; Krieg T; Steinmann B; Kivirikko KI; Myllylä R
Am J Hum Genet; 1997 Jan; 60(1):48-56. PubMed ID: 8981946
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]