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

James Hyland; Leena Ala-Kokko; Peter Royce; Beat Steinmann; Kari I. Kivirikko; Raili Myllylä

doi:10.1038/ng1192-228

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

Nature Genetics ◽

10.1038/ng1192-228 ◽

1992 ◽

Vol 2 (3) ◽

pp. 228-231 ◽

Cited By ~ 72

Author(s):

James Hyland ◽

Leena Ala-Kokko ◽

Peter Royce ◽

Beat Steinmann ◽

Kari I. Kivirikko ◽

...

Keyword(s):

Stop Codon ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Hydroxylase Gene ◽

Danlos Syndrome

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

Journal of Clinical Investigation ◽

10.1172/jci117155 ◽

1994 ◽

Vol 93 (4) ◽

pp. 1716-1721 ◽

Cited By ~ 34

Author(s):

V T Ha ◽

M K Marshall ◽

L J Elsas ◽

S R Pinnell ◽

H N Yeowell

Keyword(s):

Compound Heterozygote ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Hydroxylase Gene ◽

Danlos Syndrome

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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 ◽

10.1006/abbi.1997.0319 ◽

1997 ◽

Vol 347 (1) ◽

pp. 126-131 ◽

Cited By ~ 9

Author(s):

Heather N. Yeowell ◽

Linda C. Walker ◽

Saood Murad ◽

Sheldon R. Pinnell

Keyword(s):

Syndrome Type ◽

Hydroxylase Activity ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Hydroxylase Gene ◽

Danlos Syndrome ◽

Stimulation Of

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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

Human Mutation ◽

10.1002/(sici)1098-1004(1998)11:1<55::aid-humu9>3.0.co;2-k ◽

1998 ◽

Vol 11 (1) ◽

pp. 55-61 ◽

Cited By ~ 18

Author(s):

Birgitta Pousi ◽

Timo Hautala ◽

James C. Hyland ◽

Jukka Schröter ◽

Beate Eckes ◽

...

Keyword(s):

Compound Heterozygote ◽

The Other ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Hydroxylase Gene ◽

Splicing Defect ◽

Danlos Syndrome

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A patient with ehlers danlos syndrome type VI is a compound heterozygote for the lysyl hydroxylase gene

Journal of Dermatological Science ◽

10.1016/0923-1811(93)90794-p ◽

1993 ◽

Vol 6 (1) ◽

pp. 4

Author(s):

Heather N. Yeowell ◽

Van Ha ◽

Sheldon R. Pinnell

Keyword(s):

Compound Heterozygote ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Hydroxylase Gene ◽

Danlos Syndrome

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A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI

Human Mutation ◽

10.1002/(sici)1098-1004(199910)14:4<351::aid-humu12>3.0.co;2-p ◽

1999 ◽

Vol 14 (4) ◽

pp. 351-351 ◽

Cited By ~ 4

Author(s):

Jari Heikkinen ◽

Birgitta Pousi ◽

Michael Pope ◽

Raili Myllyl�

Keyword(s):

Compound Heterozygote ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Hydroxylase Gene ◽

Danlos Syndrome

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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

Genomics ◽

10.1006/geno.1994.1654 ◽

1994 ◽

Vol 24 (3) ◽

pp. 464-471 ◽

Cited By ~ 31

Author(s):

Jari Heikkinen ◽

Timo Hautala ◽

Kari I. Kivirikko ◽

Raili Myllylä

Keyword(s):

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Alu Sequences ◽

Hydroxylase Gene ◽

Danlos Syndrome

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Compound heterozygosity for a nonsense mutations and an exon deletion in the lysyl hydroxylase gene of a patient with ehlers danlos syndrome type VI

Matrix Biology ◽

10.1016/s0945-053x(96)90080-3 ◽

1996 ◽

Vol 15 (3) ◽

pp. 185

Author(s):

H.N. Yeowell ◽

L.C. Walker ◽

M.N. Yeowell ◽

S.R. Pinnell

Keyword(s):

Syndrome Type ◽

Compound Heterozygosity ◽

Nonsense Mutations ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Hydroxylase Gene ◽

Danlos Syndrome ◽

Exon Deletion

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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 ◽

10.1006/mgme.1999.2824 ◽

1999 ◽

Vol 67 (1) ◽

pp. 74-82 ◽

Cited By ~ 12

Author(s):

Linda C. Walker ◽

Joan C. Marini ◽

Dorothy K. Grange ◽

Jane Filie ◽

Heather N. Yeowell

Keyword(s):

Premature Termination ◽

Premature Termination Codon ◽

Termination Codon ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Lysyl Hydroxylase 1 ◽

Danlos Syndrome

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Human Lysyl Hydroxylase: Purification to Homogeneity, Partial Characterization and Comparison of Catalytic Properties with those of a Mutant Enzyme from Ehlers-Danlos Syndrome Type VI Fibroblasts

Collagen and Related Research ◽

10.1016/s0174-173x(81)80012-x ◽

1981 ◽

Vol 1 (4) ◽

pp. 355-366 ◽

Cited By ~ 21

Author(s):

Taina M. Turpeenniemi-Hujanen ◽

Ulla Puistola ◽

Kari I. Kivirikko

Keyword(s):

Catalytic Properties ◽

Mutant Enzyme ◽

Partial Characterization ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Danlos Syndrome

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Ehlers-Danlos syndrome type VI: Clinical manifestations of collagen lysyl hydroxylase deficiency

The Journal of Pediatrics ◽

10.1016/s0022-3476(89)80839-x ◽

1989 ◽

Vol 115 (3) ◽

pp. 405-409 ◽

Cited By ~ 78

Author(s):

Richard J. Wenstrup ◽

Saood Murad ◽

Sheldon R. Pinnell

Keyword(s):

Clinical Manifestations ◽

Syndrome Type ◽

Hydroxylase Deficiency ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Danlos Syndrome

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