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

L. PAJUNEN; M. SUOKAS; T. HAUTALA; S. KELLOKUMPU; B. TEBBE; K.I. KIVIRIKKO; R. MYLLYLÄ

doi:10.1089/dna.1998.17.117

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

DNA and Cell Biology ◽

10.1089/dna.1998.17.117 ◽

1998 ◽

Vol 17 (2) ◽

pp. 117-123 ◽

Cited By ~ 13

Author(s):

L. PAJUNEN ◽

M. SUOKAS ◽

T. HAUTALA ◽

S. KELLOKUMPU ◽

B. TEBBE ◽

...

Keyword(s):

Splice Site ◽

Exon Skipping ◽

Splice Site Mutation ◽

Mrna Levels ◽

Syndrome Type ◽

Site Mutation ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Nonsense Codon ◽

Danlos Syndrome

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Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV

The American Journal of Human Genetics ◽

10.1086/301641 ◽

1997 ◽

Vol 61 (6) ◽

pp. 1276-1286 ◽

Cited By ~ 51

Author(s):

Ulrike Schwarze ◽

Jayne A. Goldstein ◽

Peter H. Byers

Keyword(s):

Splice Site ◽

Exon Skipping ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Donor Splice ◽

Type Iv ◽

Col3a1 Gene ◽

Marked Preference ◽

Splicing Defects ◽

Danlos Syndrome

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A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.

Journal of Medical Genetics ◽

10.1136/jmg.30.5.376 ◽

1993 ◽

Vol 30 (5) ◽

pp. 376-380 ◽

Cited By ~ 12

Author(s):

J Lloyd ◽

P Narcisi ◽

A Richards ◽

F M Pope

Keyword(s):

Splice Site ◽

Exon Skipping ◽

Donor Splice Site ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Donor Splice ◽

Type Iv ◽

Danlos Syndrome

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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

Mutation Research/Mutation Research Genomics ◽

10.1016/s1383-5726(99)00012-6 ◽

2000 ◽

Vol 432 (1-2) ◽

pp. 33-37

Author(s):

Birgitta Pousi ◽

Jari Heikkinen ◽

Jukka Schröter ◽

Michael Pope ◽

Raili Myllylä

Keyword(s):

Rna Splicing ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Lysyl Hydroxylase ◽

Nonsense Codon ◽

Aberrant Rna ◽

Danlos Syndrome

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A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(17)44870-8 ◽

1990 ◽

Vol 265 (28) ◽

pp. 17070-17077 ◽

Cited By ~ 3

Author(s):

W G Cole ◽

A A Chiodo ◽

S R Lamande ◽

R Janeczko ◽

F Ramirez ◽

...

Keyword(s):

Splice Site ◽

Exon Skipping ◽

Base Substitution ◽

Syndrome Type ◽

Ehlers Danlos Syndrome ◽

Type Iii ◽

Type Iv ◽

Type Iii Procollagen ◽

Col3a1 Gene ◽

Danlos Syndrome

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A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)

Molecular and Cellular Probes ◽

10.1006/mcpr.1997.0101 ◽

1997 ◽

Vol 11 (3) ◽

pp. 233-236 ◽

Cited By ~ 7

Author(s):

Ali Attaie ◽

Eugene Kim ◽

Edward R. Wilcox ◽

Anil K. Lalwani

Keyword(s):

Splice Site ◽

Splice Site Mutation ◽

Type I ◽

Syndrome Type ◽

Waardenburg Syndrome ◽

Site Mutation ◽

Generation Family

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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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Congenital Secondary Hypothyroidism Caused by Exon Skipping due to a Homozygous Donor Splice Site Mutation in the TSH -Subunit Gene

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.87.1.336 ◽

2002 ◽

Vol 87 (1) ◽

pp. 336-339 ◽

Cited By ~ 12

Author(s):

J. Pohlenz

Keyword(s):

Splice Site ◽

Exon Skipping ◽

Splice Site Mutation ◽

Donor Splice Site ◽

Subunit Gene ◽

Site Mutation ◽

Donor Splice ◽

Secondary Hypothyroidism

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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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Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

The American Journal of Human Genetics ◽

10.1086/342099 ◽

2002 ◽

Vol 71 (3) ◽

pp. 451-465 ◽

Cited By ~ 58

Author(s):

Kazuhiko Takahara ◽

Ulrike Schwarze ◽

Yasutada Imamura ◽

Guy G. Hoffman ◽

Helga Toriello ◽

...

Keyword(s):

Acceptor Site ◽

Type I ◽

Syndrome Type ◽

Site Mutation ◽

Ehlers Danlos Syndrome ◽

Exon Skip ◽

Intron Removal ◽

Danlos Syndrome

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