A Patient with Ehlers-Danlos Syndrome Type VI Is Homozygous for a Premature Termination Codon in Exon 14 of the Lysyl Hydroxylase 1 Gene

Linda C. Walker; Joan C. Marini; Dorothy K. Grange; Jane Filie; Heather N. Yeowell

doi:10.1006/mgme.1999.2824

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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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

Human Mutation ◽

10.1002/1098-1004(200007)16:1<90::aid-humu19>3.0.co;2-u ◽

2000 ◽

Vol 16 (1) ◽

pp. 90-90 ◽

Cited By ~ 14

Author(s):

Heather N. Yeowell ◽

Linda C. Walker ◽

Brent Farmer ◽

Jari Heikkinen ◽

Raili Myllyla

Keyword(s):

Mutational Analysis ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Lysyl Hydroxylase 1 ◽

Danlos Syndrome

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

Matrix Biology ◽

10.1016/s0945-053x(99)00055-4 ◽

2000 ◽

Vol 19 (1) ◽

pp. 37-46 ◽

Cited By ~ 13

Author(s):

Heather N Yeowell ◽

Jayme D Allen ◽

Linda C Walker ◽

Mayra A Overstreet ◽

Saood Murad ◽

...

Keyword(s):

Enzyme Activity ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Lysyl Hydroxylase 1 ◽

Danlos Syndrome

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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 ◽

10.1006/mgme.2000.3076 ◽

2000 ◽

Vol 71 (1-2) ◽

pp. 212-224 ◽

Cited By ~ 110

Author(s):

Heather N. Yeowell ◽

Linda C. Walker

Keyword(s):

Clinical Phenotype ◽

Enzyme Deficiency ◽

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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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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Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2017.07.011 ◽

2017 ◽

Vol 60 (10) ◽

pp. 536-540 ◽

Cited By ~ 5

Author(s):

Fleur S. van Dijk ◽

Grazia M.S. Mancini ◽

Alessandra Maugeri ◽

Jan M. Cobben

Keyword(s):

Early Onset ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Lysyl Hydroxylase 1 ◽

Danlos Syndrome

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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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