Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

320 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M. García M, et al. Among authors: duarte b. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. Br J Dermatol. 2011. PMID: 21623745
Keratinocyte cell lines derived from severe generalized recessive epidermolysis bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.
Chamorro C, Almarza D, Duarte B, Llames SG, Murillas R, García M, Cigudosa JC, Espinosa-Hevia L, Escámez MJ, Mencía A, Meana A, García-Escudero R, Moro R, Conti CJ, Del Río M, Larcher F. Chamorro C, et al. Among authors: duarte b. Exp Dermatol. 2013 Sep;22(9):601-3. doi: 10.1111/exd.12203. Exp Dermatol. 2013. PMID: 23947675
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M. Escámez MJ, et al. Among authors: duarte b. Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22. Br J Dermatol. 2010. PMID: 20184583
Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement.
Escámez MJ, Carretero M, García M, Martínez-Santamaría L, Mirones I, Duarte B, Holguín A, García E, García V, Meana A, Jorcano JL, Larcher F, Del Río M. Escámez MJ, et al. Among authors: duarte b. J Invest Dermatol. 2008 Jun;128(6):1565-75. doi: 10.1038/sj.jid.5701217. Epub 2008 Jan 10. J Invest Dermatol. 2008. PMID: 18185534 Free article.
Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.
Martínez-Santamaría L, Maseda R, de Arriba MDC, Membrilla JA, Sigüenza AI, Mascías J, García M, Quintana L, Esteban-Rodríguez I, Hernández-Fernández CP, Illera N, Duarte B, Guerrero-Aspizúa S, Woodley DT, Del Río M, de Lucas R, Larcher F, Escámez MJ. Martínez-Santamaría L, et al. Among authors: duarte b. JAMA Dermatol. 2022 Apr 1;158(4):439-443. doi: 10.1001/jamadermatol.2022.0112. JAMA Dermatol. 2022. PMID: 35234827 Free PMC article.
Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.
Mencía Á, Chamorro C, Bonafont J, Duarte B, Holguin A, Illera N, Llames SG, Escámez MJ, Hausser I, Del Río M, Larcher F, Murillas R. Mencía Á, et al. Among authors: duarte b. Mol Ther Nucleic Acids. 2018 Jun 1;11:68-78. doi: 10.1016/j.omtn.2018.01.009. Epub 2018 Jan 31. Mol Ther Nucleic Acids. 2018. PMID: 29858091 Free PMC article.
Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing.
Bonafont J, Mencía A, Chacón-Solano E, Srifa W, Vaidyanathan S, Romano R, Garcia M, Hervás-Salcedo R, Ugalde L, Duarte B, Porteus MH, Del Rio M, Larcher F, Murillas R. Bonafont J, et al. Among authors: duarte b. Mol Ther. 2021 Jun 2;29(6):2008-2018. doi: 10.1016/j.ymthe.2021.02.019. Epub 2021 Feb 18. Mol Ther. 2021. PMID: 33609734 Free PMC article.
Skin gene therapy for acquired and inherited disorders.
Carretero M, Escámez MJ, Prada F, Mirones I, García M, Holguín A, Duarte B, Podhajcer O, Jorcano JL, Larcher F, Del Río M. Carretero M, et al. Among authors: duarte b. Histol Histopathol. 2006 Nov;21(11):1233-47. doi: 10.14670/HH-21.1233. Histol Histopathol. 2006. PMID: 16874666 Review.
320 results