Compound Heterozygosity for Silent and Dominant Glycine Substitution Mutations in COL7A1 Leads to a Marked Transient Intracytoplasmic Retention of Procollagen VII and a Moderately Severe Dystrophic Epidermolysis Bullosa Phenotype

Hiroshi Shimizu; Takeji Nishikawa; Nadja Hammami-Hauasli; Naohito Hatta; Leena Bruckner-Tuderman

doi:10.1046/j.1523-1747.1999.00713.x

Compound Heterozygosity for Silent and Dominant Glycine Substitution Mutations in COL7A1 Leads to a Marked Transient Intracytoplasmic Retention of Procollagen VII and a Moderately Severe Dystrophic Epidermolysis Bullosa Phenotype

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1999.00713.x ◽

1999 ◽

Vol 113 (3) ◽

pp. 419-421 ◽

Cited By ~ 32

Author(s):

Hiroshi Shimizu ◽

Takeji Nishikawa ◽

Nadja Hammami-Hauasli ◽

Naohito Hatta ◽

Leena Bruckner-Tuderman

Keyword(s):

Epidermolysis Bullosa ◽

Compound Heterozygosity ◽

Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Substitution Mutations

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Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2003.08.007 ◽

2003 ◽

Vol 33 (3) ◽

pp. 180-183 ◽

Cited By ~ 2

Author(s):

Jooyoung Kim ◽

Soo-Chan Kim ◽

Kana Yasukawa ◽

Hiroshi Shimizu

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination Codon ◽

Termination Codon ◽

Compound Heterozygosity ◽

Severe Phenotype ◽

Dystrophic Epidermolysis Bullosa ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Col7a1 Gene ◽

Substitution Mutations

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Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1998.00397.x ◽

1998 ◽

Vol 111 (5) ◽

pp. 744-750 ◽

Cited By ~ 30

Author(s):

Michela Terracina ◽

Patrizia Posteraro ◽

Giovanna Zambruno ◽

Daniele Castiglia ◽

Margit Schubert ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Compound Heterozygosity ◽

Mild Form ◽

Site Mutation ◽

Dystrophic Epidermolysis Bullosa ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Col7a1 Gene

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Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12335324 ◽

1997 ◽

Vol 108 (2) ◽

pp. 224-228 ◽

Cited By ~ 37

Author(s):

Atsushi Kon ◽

John A. McGrath ◽

Leena Pulkkinen ◽

Kazuo Nomura ◽

Takehiko Nakamura ◽

...

Keyword(s):

Genetic Counseling ◽

Epidermolysis Bullosa ◽

Collagen Gene ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

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Novel Glycine Substitution Mutations in COL7A1 Reveal that the Pasini and Cockayne–Touraine Variants of Dominant Dystrophic Epidermolysis Bullosa Are Allelic

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12338093 ◽

1997 ◽

Vol 109 (5) ◽

pp. 684-687 ◽

Cited By ~ 41

Author(s):

Atsushi Kon ◽

Kazuo Nomura ◽

Leena Pulkkinen ◽

Daisuke Sawamura ◽

Isao Hashimoto ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Substitution Mutations

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Novel andDe Novo Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1998.00422.x ◽

1998 ◽

Vol 111 (6) ◽

pp. 1210-1213 ◽

Cited By ~ 30

Author(s):

Fatima Rouan ◽

Leena Pulkkinen ◽

Jouni Uitto ◽

Marcel F. Jonkman ◽

Johann W. Bauer ◽

...

Keyword(s):

Genetic Counseling ◽

Epidermolysis Bullosa ◽

Collagen Gene ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

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Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa

Archives of Dermatological Research ◽

10.1007/s004030000162 ◽

2000 ◽

Vol 292 (10) ◽

pp. 477-481 ◽

Cited By ~ 22

Author(s):

T. Murata ◽

T. Masunaga ◽

H. Shimizu ◽

Y. Takizawa ◽

A Ishiko ◽

...

Keyword(s):

Amino Acids ◽

Epidermolysis Bullosa ◽

Dystrophic Epidermolysis Bullosa ◽

Clinical Phenotypes ◽

Glycine Substitution ◽

Substitution Mutations

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Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance

British Journal of Dermatology ◽

10.1111/j.1365-2133.2006.07388.x ◽

2006 ◽

Vol 155 (4) ◽

pp. 834-837 ◽

Cited By ~ 6

Author(s):

D. Sawamura ◽

Y. Mochitomi ◽

T. Kanzaki ◽

H. Nakamura ◽

H. Shimizu

Keyword(s):

Amino Acids ◽

Epidermolysis Bullosa ◽

Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Substitution Mutations

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Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

Acta Dermato Venereologica ◽

10.2340/00015555-1053 ◽

2011 ◽

Vol 91 (3) ◽

pp. 262-266 ◽

Cited By ~ 17

Author(s):

JA McGrath ◽

N Almaani ◽

L Liu ◽

PJ Dopping-Hepenstal ◽

JE Lai-Cheong ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

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Combination of Novel Premature Termination Codon and Glycine Substitution Mutations in COL7A1 Leads to Moderately Severe Recessive Dystrophic Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.2000.00848.x ◽

2000 ◽

Vol 114 (1) ◽

pp. 204-205 ◽

Cited By ~ 8

Author(s):

Takuji Masunaga ◽

Hiroshi Shimizu ◽

Yasuko Takizawa ◽

Jouni Uitto ◽

Takeji Nishikawa

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Premature Termination Codon ◽

Termination Codon ◽

Dystrophic Epidermolysis Bullosa ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Substitution Mutations

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Toenail Dystrophy With COL7A1 Glycine Substitution Mutations Segregates as an Autosomal Dominant Trait in 2 Families With Dystrophic Epidermolysis Bullosa

Archives of Dermatology ◽

10.1001/archderm.138.2.269 ◽

2002 ◽

Vol 138 (2) ◽

pp. 269-271 ◽

Cited By ~ 22

Author(s):

K. C. Sato-Matsumura

Keyword(s):

Epidermolysis Bullosa ◽

Autosomal Dominant ◽

Dominant Trait ◽

Autosomal Dominant Trait ◽

Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Substitution Mutations

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