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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 2
1992 4
1993 6
1994 11
1995 9
1996 13
1997 16
1998 12
1999 22
2000 9
2001 8
2002 11
2003 10
2004 10
2005 11
2006 19
2007 12
2008 20
2009 22
2010 26
2011 31
2012 30
2013 28
2014 34
2015 37
2016 44
2017 33
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2023 44
2024 36

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718 results

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Page 1
Beremagene Geperpavec: First Approval.
Dhillon S. Dhillon S. Drugs. 2023 Aug;83(12):1131-1135. doi: 10.1007/s40265-023-01921-5. Drugs. 2023. PMID: 37432558 Review.
Beremagene geperpavec-svdt (VYJUVEK) is a topically applied, redosable, live, replication defective herpes simplex virus-1 (HSV-1) vector -based gene therapy that is being developed by Krystal Biotech to deliver functional human collagen type VII alpha 1 chain (COL7A1) gen …
Beremagene geperpavec-svdt (VYJUVEK) is a topically applied, redosable, live, replication defective herpes simplex virus-1 (HSV-1) vector -b …
COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents.
Liemberger B, Bischof J, Ablinger M, Hainzl S, Murauer EM, Lackner N, Ebner P, Kocher T, Nyström A, Wally V, Mayr E, Guttmann-Gruber C, Hofbauer JP, Bauer JW, Koller U. Liemberger B, et al. Int J Mol Sci. 2023 Feb 22;24(5):4341. doi: 10.3390/ijms24054341. Int J Mol Sci. 2023. PMID: 36901775 Free PMC article.
Mutations in the COL7A1 gene lead to malfunction, reduction or complete absence of type VII collagen (C7) in the skin's basement membrane zone (BMZ), impairing skin integrity. ...Here, we leveraged a previously described 3'-RTMS6m repair molecule to develop a non-viral, no …
Mutations in the COL7A1 gene lead to malfunction, reduction or complete absence of type VII collagen (C7) in the skin's basement memb …
A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature.
Jin L, Li Z, Xin C, Tang L, Zhang X, Zhang B, Yang S. Jin L, et al. J Cosmet Dermatol. 2020 Jun;19(6):1508-1512. doi: 10.1111/jocd.13172. Epub 2019 Nov 10. J Cosmet Dermatol. 2020. PMID: 31709745 Review.
The pathogenesis of the disease is mainly due to the mutation of COL7A1 gene encoding type VII collagen fibers, resulting in the destruction of the anchoring structure of the epidermis and dermis. ...Genetic analysis revealed a missense mutation in exon 87(c.6860G>A) of …
The pathogenesis of the disease is mainly due to the mutation of COL7A1 gene encoding type VII collagen fibers, resulting in the dest …
COL7A1 Expression Improves Prognosis Prediction for Patients with Clear Cell Renal Cell Carcinoma Atop of Stage.
Koca D, Séraudie I, Jardillier R, Cochet C, Filhol O, Guyon L. Koca D, et al. Cancers (Basel). 2023 May 10;15(10):2701. doi: 10.3390/cancers15102701. Cancers (Basel). 2023. PMID: 37345040 Free PMC article.
COL7A1 is associated with survival in many cancers; however, the prognostic value of COL7A1 expression as a standalone biomarker in ccRCC has not been investigated. ...To conclude, we identified COL7A1 as a new prognosis marker that can stratify ccRCC patient …
COL7A1 is associated with survival in many cancers; however, the prognostic value of COL7A1 expression as a standalone biomark …
Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab.
Zhao C, Cao S, Gao X, Xu X, Gu L. Zhao C, et al. Mol Genet Genomic Med. 2023 Nov;11(11):e2258. doi: 10.1002/mgg3.2258. Epub 2023 Sep 7. Mol Genet Genomic Med. 2023. PMID: 37676173 Free PMC article.
BACKGROUND: Variants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullosa pruriginosa (DEB-Pr). ...Genomic DNA was extracted from the peripheral blood of the patient. RESULTS: The findings showed that a unique …
BACKGROUND: Variants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullos …
5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa.
Mayr E, Ablinger M, Lettner T, Murauer EM, Guttmann-Gruber C, Piñón Hofbauer J, Hainzl S, Kaiser M, Klausegger A, Bauer JW, Koller U, Wally V. Mayr E, et al. Int J Mol Sci. 2022 Feb 2;23(3):1732. doi: 10.3390/ijms23031732. Int J Mol Sci. 2022. PMID: 35163654 Free PMC article.
Mutations within the COL7A1 gene underlie the inherited recessive subtype of the blistering skin disease dystrophic epidermolysis bullosa (RDEB). ...Thus, we are using spliceosome-mediated RNA trans-splicing (SMaRT) to repair mutations in COL7A1 at the mRNA level. H …
Mutations within the COL7A1 gene underlie the inherited recessive subtype of the blistering skin disease dystrophic epidermolysis bul …
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N, Murrell DF. Dang N, et al. Exp Dermatol. 2008 Jul;17(7):553-68. doi: 10.1111/j.1600-0625.2008.00723.x. Exp Dermatol. 2008. PMID: 18558993 Review.
Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (COL7A1). To date, 324 pathogenic mutations have been detected within COL7A1 …
Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which res …
In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.
Gurevich I, Agarwal P, Zhang P, Dolorito JA, Oliver S, Liu H, Reitze N, Sarma N, Bagci IS, Sridhar K, Kakarla V, Yenamandra VK, O'Malley M, Prisco M, Tufa SF, Keene DR, South AP, Krishnan SM, Marinkovich MP. Gurevich I, et al. Nat Med. 2022 Apr;28(4):780-788. doi: 10.1038/s41591-022-01737-y. Epub 2022 Mar 28. Nat Med. 2022. PMID: 35347281 Free PMC article. Clinical Trial.
Recessive dystrophic epidermolysis bullosa (RDEB) is a lifelong genodermatosis associated with blistering, wounding, and scarring caused by mutations in COL7A1, the gene encoding the anchoring fibril component, collagen VII (C7). Here, we evaluated beremagene geperpavec (B …
Recessive dystrophic epidermolysis bullosa (RDEB) is a lifelong genodermatosis associated with blistering, wounding, and scarring caused by …
Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects.
Hou PC, Del Agua N, Lwin SM, Hsu CK, McGrath JA. Hou PC, et al. Ther Clin Risk Manag. 2023 Jun 14;19:455-473. doi: 10.2147/TCRM.S386923. eCollection 2023. Ther Clin Risk Manag. 2023. PMID: 37337559 Free PMC article. Review.
Dystrophic epidermolysis bullosa (DEB) is one of the major types of EB, a rare hereditary group of trauma-induced blistering skin disorders. DEB is caused by inherited pathogenic variants in the COL7A1 gene, which encodes type VII collagen, the major component of anchoring …
Dystrophic epidermolysis bullosa (DEB) is one of the major types of EB, a rare hereditary group of trauma-induced blistering skin disorders. …
ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation.
Sheriff A, Guri I, Zebrowska P, Llopis-Hernandez V, Brooks IR, Tekkela S, Subramaniam K, Gebrezgabher R, Naso G, Petrova A, Balon K, Onoufriadis A, Kujawa D, Kotulska M, Newby G, Łaczmański Ł, Liu DR, McGrath JA, Jacków J. Sheriff A, et al. Sci Rep. 2022 Nov 16;12(1):19643. doi: 10.1038/s41598-022-24184-8. Sci Rep. 2022. PMID: 36385635 Free PMC article.
Here, we use ABE8e, a recently evolved ABE, to correct primary RDEB patient fibroblasts harboring the recurrent RDEB nonsense mutation c.5047 C > T (p.Arg1683Ter) in exon 54 of COL7A1 and use a next generation sequencing workflow to interrogate post-treatment outcomes. …
Here, we use ABE8e, a recently evolved ABE, to correct primary RDEB patient fibroblasts harboring the recurrent RDEB nonsense mutation c.504 …
718 results