+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Normal and shortened transcripts from the lysyl hydroxylase gene may explain lysyl hydroxylase deficiency in fibroblasts from a patient with Ehlers Danlos syndrome type VI



Normal and shortened transcripts from the lysyl hydroxylase gene may explain lysyl hydroxylase deficiency in fibroblasts from a patient with Ehlers Danlos syndrome type VI



Journal of Investigative Dermatology 106(4): 907




Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 032570727

Download citation: RISBibTeXText


Related references

Lysyl hydroxylase activity and mRNA are significantly up-regulated by administration of hydralazine and ascorbate to fibroblasts from Ehlers Danlos syndrome type VI patients with a common duplication in the lysyl hydroxylase gene. Journal of Investigative Dermatology 106(4): 822, 1996

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. Archives of Biochemistry and Biophysics 347(1): 126-131, 1997

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. Journal of Investigative Dermatology 124(5): 914-918, 2005

Lysyl hydroxylase exhibits reduced stimulation by ascorbate and hydralazine in dermal fibroblasts from a patient with Ehlers Danlos Syndrome type VI compared with a normal donor. Matrix Biology 14(5): 383, 1994

A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for the lysyl hydroxylase gene. Journal of Investigative Dermatology 101(3): 391, 1993

A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. Journal of Clinical Investigation 93(4): 1716-1721, 1994

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Molecular Genetics and Metabolism 71(1-2): 212-224, 2000

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. Archives of Biochemistry and Biophysics 321(2): 510-516, 1995

The mRNA and activity of lysyl hydroxylase are stimulated by administration of ascorbate and hydralazine to human skin fibroblasts from a patient with Ehlers Danlos syndrome type VI. Journal of Investigative Dermatology 104(4): 670, 1995

A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI. Human Mutation 14(4): 351, 1999

Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. American Journal of Human Genetics 55(5): 899-906, 1994

A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. Molecular Genetics and Metabolism 67(1): 74-82, 1999

Inheritance analysis confirms compound heterozygosity of mutations in lysyl hydroxylase gene from a patient with Ehlers-Danlos syndrome type IV. Journal of Investigative Dermatology 102(4): 575, 1994

Compound heterozygosity for a nonsense mutation and an exon deletion in the lysyl hydroxylase gene of a patient with Ehlers Danlos syndrome type VI. Matrix Biology 15(3): 185, 1996

Effect of vitamin C on collagen and lysyl hydroxylase RNA in fibroblasts from patients with Ehlers-Danlos syndrome type VI. American Journal of Human Genetics 73(5): 447, 2003