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Quoted phrase not found in phrase index: "Generalized dominant dystrophic epidermolysis bullosa"
Page 1
Oral Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review.
Polizzi A, Santonocito S, Patini R, Quinzi V, Mummolo S, Leonardi R, Bianchi A, Isola G. Polizzi A, et al. Biomed Res Int. 2022 May 31;2022:6493156. doi: 10.1155/2022/6493156. eCollection 2022. Biomed Res Int. 2022. PMID: 35686231 Free PMC article. Review.
Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanical trauma with rupture at the dermoepidermal junction. ...From the sample results, it can be concluded that the clinical manifestation of EB …
Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanica …
Dystrophic Epidermolysis Bullosa Inversa - Case Report and Review of the Literature.
Merzel Šabović EK, Luzar B, Wechtersbach K, Dolenc-Voljč M. Merzel Šabović EK, et al. Acta Dermatovenerol Croat. 2022 Nov;30(3):151-156. Acta Dermatovenerol Croat. 2022. PMID: 36812272 Review.
Dystrophic epidermolysis bullosa inversa is a very rare subtype of inherited dystrophic epidermolysis bullosa with a unique clinical manifestation. ...In contrast to other variants of dystrophic epidermolysis bullosa, …
Dystrophic epidermolysis bullosa inversa is a very rare subtype of inherited dystrophic epidermolysis …
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.
Arline Diana I, Tan EC, Gondokaryono SP, Koh MJ, Dwiyana RF, Rahardja JI, Yogya Y, Rafi'ee K, Suwarsa O. Arline Diana I, et al. Australas J Dermatol. 2023 Nov;64(4):e327-e332. doi: 10.1111/ajd.14121. Epub 2023 Jul 14. Australas J Dermatol. 2023. PMID: 37452458
BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogeneity. ...RESULTS: Pathogenic variants were identified in the COL7A1 gene in seven patients, namely Dominant Dystrophic EB (DDE …
BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogen …
Predictable CRISPR/Cas9-Mediated COL7A1 Reframing for Dystrophic Epidermolysis Bullosa.
Kocher T, March OP, Bischof J, Liemberger B, Hainzl S, Klausegger A, Hoog A, Strunk D, Bauer JW, Koller U. Kocher T, et al. J Invest Dermatol. 2020 Oct;140(10):1985-1993.e5. doi: 10.1016/j.jid.2020.02.012. Epub 2020 Mar 3. J Invest Dermatol. 2020. PMID: 32142798 Free article.
The severe dystrophic form of the blistering skin disease epidermolysis bullosa (DEB) represents a suitable model platform to test these recent developments for the disruption and reframing of dominant and recessive alleles, respectively, both frequent …
The severe dystrophic form of the blistering skin disease epidermolysis bullosa (DEB) represents a suitable model platf …
Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa.
Cianfarani F, De Domenico E, Nyström A, Mastroeni S, Abeni D, Baldini E, Ulisse S, Uva P, Bruckner-Tuderman L, Zambruno G, Castiglia D, Odorisio T. Cianfarani F, et al. Matrix Biol. 2019 Aug;81:3-16. doi: 10.1016/j.matbio.2018.12.001. Epub 2018 Dec 5. Matrix Biol. 2019. PMID: 30528862
Loss-of-function mutations in the gene encoding type VII collagen underlie recessive dystrophic epidermolysis bullosa (RDEB), a disease characterized by skin and mucosal blistering, impaired wound healing, and diffuse dermal inflammation and fibrosis. ...Our …
Loss-of-function mutations in the gene encoding type VII collagen underlie recessive dystrophic epidermolysis bullosa ( …
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. Hainzl S, et al. Mol Ther. 2017 Nov 1;25(11):2573-2584. doi: 10.1016/j.ymthe.2017.07.005. Epub 2017 Jul 13. Mol Ther. 2017. PMID: 28800953 Free PMC article.
In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-directed repair approach for the correction of a frequent inherited mutation in exon 80 of COL7A1, which impairs type VII collagen expression, causing the severe blistering skin disease recessive dystrop …
In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-directed repair approach for the correction of a frequent inherite …
MicroRNA-200b-mediated reversion of a spectrum of epithelial-to-mesenchymal transition states in recessive dystrophic epidermolysis bullosa squamous cell carcinomas.
Illmer J, Zauner R, Piñón Hofbauer J, Wimmer M, Gruner S, Ablinger M, Bischof J, Dorfer S, Hainzl S, Tober V, Bergson S, Sarig O, Samuelov L, Guttmann-Gruber C, Shalom-Feuerstein R, Sprecher E, Koller U, Laimer M, Bauer JW, Wally V. Illmer J, et al. Br J Dermatol. 2023 Dec 20;190(1):80-93. doi: 10.1093/bjd/ljad335. Br J Dermatol. 2023. PMID: 37681509
BACKGROUND: Cutaneous squamous cell carcinoma (SCC) is the leading cause of death in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, the survival time from first diagnosis differs between patients; some tumours spread particularly fa …
BACKGROUND: Cutaneous squamous cell carcinoma (SCC) is the leading cause of death in patients with recessive dystrophic epidermoly …
Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study.
Reimer A, Hess M, Schwieger-Briel A, Kiritsi D, Schauer F, Schumann H, Bruckner-Tuderman L, Has C. Reimer A, et al. Br J Dermatol. 2020 Jun;182(6):1437-1448. doi: 10.1111/bjd.18475. Epub 2019 Nov 27. Br J Dermatol. 2020. PMID: 31487386
BACKGROUND: Impaired growth and anaemia are major extracutaneous complications of epidermolysis bullosa (EB), but data on their development are lacking. ...METHODS: A retrospective study was conducted of 200 children, 157 with recessive dystrophic EB (RDEB) a …
BACKGROUND: Impaired growth and anaemia are major extracutaneous complications of epidermolysis bullosa (EB), but data on thei …
A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa.
Phillips GS, Huang A, Augsburger BD, Kaplan L, Peoples K, Bruckner AL, Khuu P, Tang JY, Lara-Corrales I, Pope E, Wiss K, Levin LE, Morel KD, Hook KP, Paller AS, Eichenfield LF, McCuaig CC, Powell J, Castelo-Soccio L, Levy ML, Price HN, Schachner LA, Browning JC, Jahnke M, Shwayder T, Bayliss S, Lucky AW, Glick SA. Phillips GS, et al. J Am Acad Dermatol. 2022 May;86(5):1063-1071. doi: 10.1016/j.jaad.2021.09.065. Epub 2021 Oct 8. J Am Acad Dermatol. 2022. PMID: 34634382
BACKGROUND: Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, and genetic counseling. ...The likelihood of undergoing genetic analysis was greater for junctional EB and recessive dystrophic EB, and …
BACKGROUND: Accurate diagnosis of epidermolysis bullosa (EB) has significant implications for prognosis, management, an …
Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening.
Di Zenzo G, Floriddia G, Rossi S, Mariotti F, Primerano A, Condorelli AG, Didona B, Castiglia D. Di Zenzo G, et al. Front Immunol. 2022 Jul 29;13:929286. doi: 10.3389/fimmu.2022.929286. eCollection 2022. Front Immunol. 2022. PMID: 35967298 Free PMC article.
Autoimmune response to cutaneous basement membrane components superimposed on a genetic skin fragility disease, hereditary epidermolysis bullosa (EB), has been described, but its effects on disease course remain unclear. We report a 69-year-old individual wit …
Autoimmune response to cutaneous basement membrane components superimposed on a genetic skin fragility disease, hereditary epidermolysis …
44 results