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 *

465 related articles for article (PubMed ID: 28549954)

  • 21. Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.
    Masunaga T; Kubo A; Ishiko A
    J Dermatol; 2018 Jun; 45(6):742-745. PubMed ID: 29500833
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Patent landscape of molecular and cellular targeted therapies for recessive dystrophic epidermolysis bullosa.
    Dourado Alcorte M; Sogayar MC; Demasi MA
    Expert Opin Ther Pat; 2019 May; 29(5):327-337. PubMed ID: 31017019
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles.
    Yonei N; Ohtani T; Furukawa F
    J Dermatol; 2006 Nov; 33(11):802-5. PubMed ID: 17073998
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Two cases of recessive dystrophic epidermolysis bullosa diagnosed as severe generalized.
    Ohashi M; Shu E; Nagai M; Murase K; Nakano H; Tamai K; Sawamura D; Hiroka T; Seishima M; Kitajima Y; Aoyama Y
    J Dermatol; 2011 Sep; 38(9):893-9. PubMed ID: 21658117
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.
    Lin Y; Chen XJ; Liu W; Gong B; Xie J; Xiong JH; Cheng J; Duan XL; Lin ZC; Huang LL; Wan HY; Liu XQ; Song LH; Yang ZL
    PLoS One; 2012; 7(11):e50579. PubMed ID: 23226319
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.
    Twaroski K; Eide C; Riddle MJ; Xia L; Lees CJ; Chen W; Mathews W; Keene DR; McGrath JA; Tolar J
    Br J Dermatol; 2019 Dec; 181(6):1247-1253. PubMed ID: 30924923
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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.
    Terracina M; Posteraro P; Schubert M; Sonego G; Atzori F; Zambruno G; Bruckner-Tuderman L; Castiglia D
    J Invest Dermatol; 1998 Nov; 111(5):744-50. PubMed ID: 9804332
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.
    Chen M; Kasahara N; Keene DR; Chan L; Hoeffler WK; Finlay D; Barcova M; Cannon PM; Mazurek C; Woodley DT
    Nat Genet; 2002 Dec; 32(4):670-5. PubMed ID: 12426566
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Highly Efficient Ex Vivo Correction of COL7A1 through Ribonucleoprotein-Based CRISPR/Cas9 and Homology-Directed Repair to Treat Recessive Dystrophic Epidermolysis Bullosa.
    Berthault C; Gaucher S; Gouin O; Schmitt A; Chen M; Woodley D; Titeux M; Hovnanian A; Izmiryan A
    J Invest Dermatol; 2024 Jun; 144(6):1322-1333.e13. PubMed ID: 38043638
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.
    Ito K; Sawamura D; Goto M; Nakamura H; Nishie W; Sakai K; Natsuga K; Shinkuma S; Shibaki A; Uitto J; Denton CP; Nakajima O; Akiyama M; Shimizu H
    Am J Pathol; 2009 Dec; 175(6):2508-17. PubMed ID: 19893033
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 Retroviral Vector.
    Jacków J; Titeux M; Portier S; Charbonnier S; Ganier C; Gaucher S; Hovnanian A
    J Invest Dermatol; 2016 Jul; 136(7):1346-1354. PubMed ID: 26994967
    [TBL] [Abstract][Full Text] [Related]  

  • 32. One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.
    Khaniani MS; Sohrabi N; Derakhshan NM; Derakhshan SM
    Ann Clin Lab Sci; 2015; 45(5):582-4. PubMed ID: 26586712
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
    Hovnanian A; Rochat A; Bodemer C; Petit E; Rivers CA; Prost C; Fraitag S; Christiano AM; Uitto J; Lathrop M; Barrandon Y; de Prost Y
    Am J Hum Genet; 1997 Sep; 61(3):599-610. PubMed ID: 9326325
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Safety and Wound Outcomes Following Genetically Corrected Autologous Epidermal Grafts in Patients With Recessive Dystrophic Epidermolysis Bullosa.
    Siprashvili Z; Nguyen NT; Gorell ES; Loutit K; Khuu P; Furukawa LK; Lorenz HP; Leung TH; Keene DR; Rieger KE; Khavari P; Lane AT; Tang JY; Marinkovich MP
    JAMA; 2016 Nov; 316(17):1808-1817. PubMed ID: 27802546
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa.
    Titeux M; Pendaries V; Tonasso L; Décha A; Bodemer C; Hovnanian A
    Hum Mutat; 2008 Feb; 29(2):267-76. PubMed ID: 18030675
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
    Dunnill MG; McGrath JA; Richards AJ; Christiano AM; Uitto J; Pope FM; Eady RA
    J Invest Dermatol; 1996 Aug; 107(2):171-7. PubMed ID: 8757758
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Correction of Recessive Dystrophic Epidermolysis Bullosa by Transposon-Mediated Integration of COL7A1 in Transplantable Patient-Derived Primary Keratinocytes.
    Latella MC; Cocchiarella F; De Rosa L; Turchiano G; Gonçalves MAFV; Larcher F; De Luca M; Recchia A
    J Invest Dermatol; 2017 Apr; 137(4):836-844. PubMed ID: 28027893
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
    Christiano AM; Anton-Lamprecht I; Amano S; Ebschner U; Burgeson RE; Uitto J
    Am J Hum Genet; 1996 Apr; 58(4):682-93. PubMed ID: 8644730
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 24.