Below are the most recent publications written about "Epidermolysis Bullosa Dystrophica" by people in Profiles.
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Jeffs E, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, McGrath JA, Wang Y, Martinez AE, Mellerio JE. Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES). Orphanet J Rare Dis. 2024 Oct 11; 19(1):375.
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Stone W, Strege C, Miller W, Geurts AM, Grzybowski M, Riddle M, Lees C, Eide C, Keene DR, Tufa SF, Seelig D, McGrath J, Tolar J. Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype. PLoS One. 2024; 19(5):e0302991.
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Papanikolaou M, Nattkemper L, Benzian-Olsson N, Liu L, Guy A, Lu H, Kadiyirire T, Hou PC, Aala W, Serrano S, Pramanik R, Walters N, Dimitrakopoulou K, Lwin S, Kalfas E, Satoc J, Laddach R, Cozzetto D, Thomas B, Kesidou E, Rashidghamat E, Orchard G, O'Toole EA, Hsu CK, Saqi M, Steinhoff M, Onoufriadis A, Yosipovitch G, Gould H, Mellerio JE, McGrath JA. Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study. J Am Acad Dermatol. 2024 Jul; 91(1):130-133.
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Doolan BJ, McGrath JA, Mellerio JE. Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critically appraised research paper. Br J Dermatol. 2024 Feb 16; 190(3):340-342.
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Ropret S, Khurana P, Fabcic T, Cvetkovska J, Trobec A, Jokhadar ?Z, Ilic D, McGrath JA, Guttmann-Gruber C, Liovic M. Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB). Stem Cell Res. 2024 Mar; 75:103306.
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Saced?n R, de Arriba MC, Mart?nez-Santamar?a L, Maseda R, Herr?iz-Gil S, Jim?nez E, Rosales I, Quintana L, Illera N, Garc?a M, Butta N, Fern?ndez-Bello I, Lwin SM, Fern?ndez-Arquero M, Le?n C, McGrath JA, Vicente M?, Del R?o M, de Lucas R, S?nchez-Ram?n S, Esc?mez MJ. Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2023 11 16; 189(6):774-776.
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Mellerio JE, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, Papanikolaou M, McGrath JA, Wang Y, Martinez AE, Jeffs E. Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study. Orphanet J Rare Dis. 2023 08 09; 18(1):235.
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Tu WT, Hou PC, Chen PC, Chen WR, Huang HY, Wang JY, Huang YT, Wu YH, Su CL, Tang YA, Iwata H, Natsuga K, Chao SC, Sun HS, Tang MJ, Lee JY, McGrath JA, Hsu CK. Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients. Orphanet J Rare Dis. 2022 12 28; 17(1):451.
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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, Laczmanski L, Liu DR, McGrath JA, Jack?w J. ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation. Sci Rep. 2022 11 16; 12(1):19643.
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Greenblatt DT, Hubbard L, Bloor C, Card D, McGrath JA, Mellerio JE. Vitamin C concentrations in patients with epidermolysis bullosa. Br J Dermatol. 2022 11; 187(5):808-810.