These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

112 related articles for article (PubMed ID: 30171566)

  • 21. Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing.
    Titeux M; Mejía JE; Mejlumian L; Bourthoumieu S; Mirval S; Tonasso L; Heller M; Prost-Squarcioni C; Hovnanian A
    Hum Mutat; 2006 Mar; 27(3):291-2. PubMed ID: 16470588
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.
    Covaciu C; Grosso F; Pisaneschi E; Zambruno G; Gregersen PA; Sommerlund M; Hertz JM; Castiglia D
    Br J Dermatol; 2011 Sep; 165(3):678-82. PubMed ID: 21574979
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
    Varki R; Sadowski S; Uitto J; Pfendner E
    J Med Genet; 2007 Mar; 44(3):181-92. PubMed ID: 16971478
    [TBL] [Abstract][Full Text] [Related]  

  • 24. An RNA-targeted therapy for dystrophic epidermolysis bullosa.
    Peking P; Koller U; Duarte B; Murillas R; Wolf S; Maetzig T; Rothe M; Kocher T; García M; Brachtl G; Schambach A; Larcher F; Reichelt J; Bauer JW; Murauer EM
    Nucleic Acids Res; 2017 Sep; 45(17):10259-10269. PubMed ID: 28973459
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Skipping multiple exons of dystrophin transcripts using cocktail antisense oligonucleotides.
    Echigoya Y; Yokota T
    Nucleic Acid Ther; 2014 Feb; 24(1):57-68. PubMed ID: 24380394
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa.
    Bremer J; Bornert O; Nyström A; Gostynski A; Jonkman MF; Aartsma-Rus A; van den Akker PC; Pasmooij AM
    Mol Ther Nucleic Acids; 2016 Oct; 5(10):e379. PubMed ID: 27754488
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa.
    Jiang W; Bu D; Yang Y; Zhu X
    Acta Derm Venereol; 2002; 82(3):187-91. PubMed ID: 12353709
    [TBL] [Abstract][Full Text] [Related]  

  • 28. COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.
    Hainzl S; Peking P; Kocher T; Murauer EM; Larcher F; Del Rio M; Duarte B; Steiner M; Klausegger A; Bauer JW; Reichelt J; Koller U
    Mol Ther; 2017 Nov; 25(11):2573-2584. PubMed ID: 28800953
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa.
    Kitazawa T; Kawakami T; Matsuoka M; Kimura S; Soma Y; Nakano H
    J Dermatol; 2014 Nov; 41(11):1018-9. PubMed ID: 25346305
    [No Abstract]   [Full Text] [Related]  

  • 30. Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa.
    Chao SC; Lee JY
    J Formos Med Assoc; 2007 Jan; 106(1):86-91. PubMed ID: 17282977
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The assembly and evaluation of antisense oligonucleotides applied in exon skipping for titin-based mutations in dilated cardiomyopathy.
    Hahn JK; Neupane B; Pradhan K; Zhou Q; Testa L; Pelzl L; Maleck C; Gawaz M; Gramlich M
    J Mol Cell Cardiol; 2019 Jun; 131():12-19. PubMed ID: 30998980
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.
    von Bartenwerffer W; Has C; Arin MJ; Tantcheva-Poór I; Kreuter A; Kremer K; Arshah T; Hoffmann M; Eming SA; Kohlhase J; Krieg T; Bruckner-Tuderman L; Hartmann K
    Eur J Dermatol; 2011; 21(2):170-2. PubMed ID: 21382783
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.
    Maruyama R; Yokota T
    Methods Mol Biol; 2018; 1828():79-90. PubMed ID: 30171536
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene.
    Christiano AM; Hoffman GG; Chung-Honet LC; Lee S; Cheng W; Uitto J; Greenspan DS
    Genomics; 1994 May; 21(1):169-79. PubMed ID: 8088784
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Designing Effective Antisense Oligonucleotides for Exon Skipping.
    Shimo T; Maruyama R; Yokota T
    Methods Mol Biol; 2018; 1687():143-155. PubMed ID: 29067661
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Exonic sequences provide better targets for antisense oligonucleotides than splice site sequences in the modulation of Duchenne muscular dystrophy splicing.
    Aartsma-Rus A; Houlleberghs H; van Deutekom JC; van Ommen GJ; 't Hoen PA
    Oligonucleotides; 2010 Apr; 20(2):69-77. PubMed ID: 20377429
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Natural gene therapy in dystrophic epidermolysis bullosa.
    van den Akker PC; Nijenhuis M; Meijer G; Hofstra RM; Jonkman MF; Pasmooij AM
    Arch Dermatol; 2012 Feb; 148(2):213-6. PubMed ID: 22004882
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.
    Massé M; Cserhalmi-Friedman PB; Falanga V; Celebi JT; Martinez-Mir A; Christiano AM
    Clin Exp Dermatol; 2005 May; 30(3):289-93. PubMed ID: 15807692
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa.
    Christiano AM; Hoffman GG; Zhang X; Xu Y; Tamai Y; Greenspan DS; Uitto J
    Hum Mutat; 1997; 10(5):408-14. PubMed ID: 9375858
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy.
    Scalet D; Balestra D; Rohban S; Bovolenta M; Perrone D; Bernardi F; Campaner S; Pinotti M
    Biochim Biophys Acta Mol Basis Dis; 2017 Jan; 1863(1):15-20. PubMed ID: 27639833
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.