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.
7. A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A. Liu J; Wang L Acta Dermatovenerol Croat; 2021 Dec; 29(3):164-166. PubMed ID: 34990346 [TBL] [Abstract][Full Text] [Related]
8. Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes. Knöpfel N; Noguera-Morel L; Hernández-Martin A; García-Martin A; García M; Mencía Á; Pedrero RM; de Lucas R; Escámez MJ; Torrelo A Pediatr Dermatol; 2018 Mar; 35(2):e94-e98. PubMed ID: 29272047 [TBL] [Abstract][Full Text] [Related]
9. Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses. Chacón-Solano E; León C; Díaz F; García-García F; García M; Escámez MJ; Guerrero-Aspizua S; Conti CJ; Mencía Á; Martínez-Santamaría L; Llames S; Pévida M; Carbonell-Caballero J; Puig-Butillé JA; Maseda R; Puig S; de Lucas R; Baselga E; Larcher F; Dopazo J; Del Río M Br J Dermatol; 2019 Sep; 181(3):512-522. PubMed ID: 30693469 [TBL] [Abstract][Full Text] [Related]
10. Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity. Odorisio T; Di Salvio M; Orecchia A; Di Zenzo G; Piccinni E; Cianfarani F; Travaglione A; Uva P; Bellei B; Conti A; Zambruno G; Castiglia D Hum Mol Genet; 2014 Aug; 23(15):3907-22. PubMed ID: 24599399 [TBL] [Abstract][Full Text] [Related]
11. Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis. Chacón-Solano E; León C; Carretero M; García M; Sánchez-Domínguez R; Quero F; Méndez-Jiménez E; Bonafont J; Ruiz-Mezcua B; Escámez MJ; Larcher F; Del Río M Matrix Biol; 2022 Aug; 111():189-206. PubMed ID: 35779740 [TBL] [Abstract][Full Text] [Related]
12. Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa. Aguado T; García M; García A; Ferrer-Mayorga G; Martínez-Santamaría L; Del Río M; Botella LM; Sánchez-Puelles JM Cells; 2020 Sep; 9(9):. PubMed ID: 32947957 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Impaired Wound Healing, Fibrosis, and Cancer: The Paradigm of Recessive Dystrophic Epidermolysis Bullosa. Tartaglia G; Cao Q; Padron ZM; South AP Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34065916 [TBL] [Abstract][Full Text] [Related]
15. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. McGrath JA; Ishida-Yamamoto A; O'Grady A; Leigh IM; Eady RA J Invest Dermatol; 1993 Apr; 100(4):366-72. PubMed ID: 8454899 [TBL] [Abstract][Full Text] [Related]
16. Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Ng YZ; Pourreyron C; Salas-Alanis JC; Dayal JH; Cepeda-Valdes R; Yan W; Wright S; Chen M; Fine JD; Hogg FJ; McGrath JA; Murrell DF; Leigh IM; Lane EB; South AP Cancer Res; 2012 Jul; 72(14):3522-34. PubMed ID: 22564523 [TBL] [Abstract][Full Text] [Related]
17. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. Wagner JE; Ishida-Yamamoto A; McGrath JA; Hordinsky M; Keene DR; Woodley DT; Chen M; Riddle MJ; Osborn MJ; Lund T; Dolan M; Blazar BR; Tolar J N Engl J Med; 2010 Aug; 363(7):629-39. PubMed ID: 20818854 [TBL] [Abstract][Full Text] [Related]
18. Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations. Guerra L; Condorelli AG; Fortugno P; Calabresi V; Pedicelli C; Di Zenzo G; Castiglia D Acta Derm Venereol; 2018 Apr; 98(4):411-415. PubMed ID: 29182795 [TBL] [Abstract][Full Text] [Related]
19. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. McGrath JA; Ashton GH; Mellerio JE; Salas-Alanis JC; Swensson O; McMillan JR; Eady RA J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327 [TBL] [Abstract][Full Text] [Related]
20. Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness. Weinel S; Lucky AW; Uitto J; Pfendner EG; Choo D Pediatr Dermatol; 2008; 25(2):210-4. PubMed ID: 18429782 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]