Heterozygosity for Premature Termination Codon Mutations in LAMB3 in Siblings with Non-Lethal Junctional Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1998.00399.x ◽

1998 ◽

Vol 111 (6) ◽

pp. 1244-1246 ◽

Author(s):

Leena Pulkkinen ◽

Jouni Uitto

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Premature Termination Codon ◽

Termination Codon ◽

Junctional Epidermolysis Bullosa

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751 Gentamicin induces premature termination codon readthrough and restores laminin 332 in junctional epidermolysis bullosa harboring nonsense mutations

Journal of Investigative Dermatology ◽

10.1016/j.jid.2018.03.761 ◽

2018 ◽

Vol 138 (5) ◽

pp. S128

Author(s):

V. Lincoln ◽

J. Cogan ◽

Y. Hou ◽

M. Hirsch ◽

M. Hao ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Premature Termination Codon ◽

Termination Codon ◽

Nonsense Mutations ◽

Junctional Epidermolysis Bullosa ◽

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Novel Premature Termination Codon Mutations in the Laminin γ2-Chain Gene (LAMC2) in Herlitz Junctional Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1998.00438.x ◽

1998 ◽

Vol 111 (6) ◽

pp. 1233-1234 ◽

Author(s):

Yasuko Takizawa ◽

Hiroshi Shimizu ◽

Leena Pulkkinen ◽

Shuko Nonaka ◽

Toshihide Kubo ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Premature Termination Codon ◽

Termination Codon ◽

Junctional Epidermolysis Bullosa

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Targeted Skipping of a Single Exon Harboring a Premature Termination Codon Mutation: Implications and Potential for Gene Correction Therapy for Selective Dystrophic Epidermolysis Bullosa Patients

Journal of Investigative Dermatology ◽

10.1038/sj.jid.5700435 ◽

2006 ◽

Vol 126 (12) ◽

pp. 2614-2620 ◽

Author(s):

Maki Goto ◽

Daisuke Sawamura ◽

Wataru Nishie ◽

Kaori Sakai ◽

James R. McMillan ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Premature Termination Codon ◽

Termination Codon ◽

Gene Correction ◽

Dystrophic Epidermolysis Bullosa ◽

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Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?

Experimental Dermatology ◽

10.1111/j.0906-6705.2004.00167.x ◽

2004 ◽

Vol 13 (4) ◽

pp. 229-233 ◽

Author(s):

Akira Ishiko ◽

Takuji Masunaga ◽

Takayuki Ota ◽

Takeji Nishikawa

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Premature Termination Codon ◽

Termination Codon ◽

Clinical Severity ◽

Dystrophic Epidermolysis Bullosa ◽

Recessive Dystrophic Epidermolysis Bullosa

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Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.2000.00880.x ◽

2000 ◽

Vol 114 (2) ◽

pp. 381-387 ◽

Author(s):

Fatima Rouan ◽

Leena Pulkkinen ◽

Sal LaForgia ◽

Patrice Hyde ◽

Gabriele Richard ◽

...

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Premature Termination ◽

De Novo ◽

Premature Termination Codon ◽

Termination Codon ◽

Deletion Mutations

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Recurrent COL7A1 Mutations in Japanese Patients with Dystrophic Epidermolysis Bullosa: Positional Effects of Premature Termination Codon Mutations on Clinical Severity

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1999.00601.x ◽

1999 ◽

Vol 112 (6) ◽

pp. 991-993 ◽

Author(s):

Katsuto Tamai ◽

Takaya Murai ◽

Mamiko Mayama ◽

Atsushi Kon ◽

Kazuo Nomura ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Japanese Patients ◽

Premature Termination Codon ◽

Termination Codon ◽

Clinical Severity ◽

Dystrophic Epidermolysis Bullosa ◽

Positional Effects

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Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1016/j.jid.2017.05.011 ◽

2017 ◽

Vol 137 (9) ◽

pp. 1842-1849 ◽

Author(s):

Velina S. Atanasova ◽

Qiujie Jiang ◽

Marco Prisco ◽

Christina Gruber ◽

Josefina Piñón Hofbauer ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Premature Termination Codon ◽

Full Length ◽

Termination Codon ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Recessive Dystrophic Epidermolysis Bullosa

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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 ◽

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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Faculty Opinions recommendation of T-cell receptor sequences that elicit strong down-regulation of premature termination codon-bearing transcripts.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1003817.42410 ◽

2002 ◽

Author(s):

Lynne Maquat

Keyword(s):

T Cell ◽

T Cell Receptor ◽

Premature Termination ◽

Premature Termination Codon ◽

Cell Receptor ◽

Termination Codon ◽

Down Regulation

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Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of theuroporphyrinogen III cosynthasegene causes a severe phenotype of congenital erythropoietic porphyria

Journal of the European Academy of Dermatology and Venereology ◽

10.1111/j.1468-3083.2008.02905.x ◽

2009 ◽

Vol 23 (4) ◽

pp. 470-471 ◽

Author(s):

T-W Kang ◽

S-W Oh ◽

M-R Kim ◽

JS Lee ◽

S-C Kim

Keyword(s):

Missense Mutation ◽

Premature Termination ◽

Premature Termination Codon ◽

Termination Codon ◽

Compound Heterozygosity ◽

Severe Phenotype ◽

Congenital Erythropoietic Porphyria ◽

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