المؤلفون: Lai S, Lin C, Guo Z, Lai Y, Xie L, Wan C, Yang T, Li L

المصدر: Clinical, Cosmetic and Investigational Dermatology, Vol Volume 18, Pp 183-190 (2025)

مصطلحات موضوعية: dystrophic epidermolysis bullosa, col7a1, type vii collagen, gene mutation, gene detection, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-novel-col7a1-mutation-in-a-patient-with-dystrophic-epidermolysis-bul-peer-reviewed-fulltext-article-CCID; https://doaj.org/toc/1178-7015

URL الوصول: https://doaj.org/article/6ed705a22b214f3c8db50a1b49044694

المؤلفون: Alessio Gambino, Ezio Sindici, Simona Astesano, Lucia Basiglio, Valeria Vallone, Paolo Giacomo Arduino

المصدر: Oral, Vol 4, Iss 4, Pp 441-448 (2024)

مصطلحات موضوعية: epidermolysis bullosa (EB), dystrophic epidermolysis bullosa (DEB), optical coherence tomography (OCT), laser photobiomodulation (PBM), cord blood platelet gel (CBPG), Dentistry, RK1-715

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2673-6373/4/4/35; https://doaj.org/toc/2673-6373

URL الوصول: https://doaj.org/article/90ad4c493a7641a690efcbd6f473e4fe

المؤلفون: Elke Niebergall-Roth, Kathrin Dieter, Markus H. Frank, Mark A. Kluth

المصدر: Journal of Dermatological Treatment, Vol 35, Iss 1 (2024)

مصطلحات موضوعية: Cell therapy, clinical trials, collagen VII, disease-modifying therapy, mesenchymal stromal cells, recessive dystrophic epidermolysis bullosa, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0954-6634; https://doaj.org/toc/1471-1753

URL الوصول: https://doaj.org/article/efb7b29873f44fc58aad2d306a78a086

المؤلفون: Amy S. Paller, Shireen V. Guide, Diego Ayala, Mercedes E. Gonzalez, Anne W. Lucky, Isin Sinem Bagci, M. Peter Marinkovich

المصدر: Journal of Dermatological Treatment, Vol 35, Iss 1 (2024)

مصطلحات موضوعية: Dystrophic epidermolysis bullosa, DEB, beremagene geperpavec, B-VEC, gene therapy, topical therapy, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0954-6634; https://doaj.org/toc/1471-1753

URL الوصول: https://doaj.org/article/4d22581de2c841f09a639f4a31802fdc

المؤلفون: Dimitra Kiritsi, Franziska Schauer, Stella Gewert, Katja Reineker, Antonia Reimer-Taschenbrecker, Agnes Schwieger-Briel, Hagen Ott, Claudia Schmoor, Olga Grishina, Dedee Murrell, Brigitte Stiller, Tobias Zahn, Alexander Nyström, Leena Bruckner-Tuderman

المصدر: EClinicalMedicine, Vol 77, Iss , Pp 102900- (2024)

مصطلحات موضوعية: Genetic blistering disorder, Dystrophic epidermolysis bullosa, COL7A1, Symptom relief therapy, Skin fragility, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589537024004796; https://doaj.org/toc/2589-5370

URL الوصول: https://doaj.org/article/ceaea83a01bb41de80f3d86b05684855

المؤلفون: Francesca Caroppo, MD, Fortunato Cassalia, MD, Elisa Milan, MD, Anna Belloni Fortina, MD

المصدر: JAAD Case Reports, Vol 50, Iss , Pp 79-81 (2024)

مصطلحات موضوعية: congenital diseases, DEB, dystrophic epidermolysis bullosa, EB, epidermolysis bullosa, genetic diseases, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512624002182; https://doaj.org/toc/2352-5126

URL الوصول: https://doaj.org/article/0bcd000b0c3944e092b2e0e2a80773d5

المؤلفون: Austin Hwang, Andie Kwon, Corinne H. Miller, Antonia Reimer-Taschenbrecker, Amy S. Paller

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Anti-EGFR therapy, Chemotherapy, Epidermolysis bullosa, Immunotherapy, Radiotherapy, Recessive dystrophic epidermolysis bullosa, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/64f39d56a71f4cad83d2160f67236646

المؤلفون: May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertová, Christine Bodemer, Dédée F. Murrell, Damiano Abeni

المصدر: Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Inherited epidermolysis bullosa, Epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa, Kindler epidermolysis bullosa, Quality of life, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/021ea3190f5a49efb5f6f7aefcca65e4

المؤلفون: Grace Tartaglia, Ignacia Fuentes, Neil Patel, Abigail Varughese, Lauren E Israel, Pyung Hun Park, Michael H Alexander, Shiv Poojan, Qingqing Cao, Brenda Solomon, Zachary M Padron, Jonathan A Dyer, Jemima E Mellerio, John A McGrath, Francis Palisson, Julio Salas-Alanis, Lin Han, Andrew P South

المصدر: EMBO Molecular Medicine, Vol 16, Iss 4, Pp 870-884 (2024)

مصطلحات موضوعية: Fibrosis, Collagen, Recessive Dystrophic Epidermolysis Bullosa, Drug Repurposing, Antivirals, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/68b1c43ece124fbe9f6ab1f212aefc96

المؤلفون: Alex du Rand, John Hunt, Christopher Samson, Evert Loef, Chloe Malhi, Sarah Meidinger, Chun‐Jen Jennifer Chen, Ashley Nutsford, John Taylor, Rod Dunbar, Diana Purvis, Vaughan Feisst, Hilary Sheppard

المصدر: Bioengineering & Translational Medicine, Vol 9, Iss 4, Pp n/a-n/a (2024)

مصطلحات موضوعية: CRISPR/Cas9, exon skipping, gene therapy, recessive dystrophic epidermolysis bullosa (RDEB), ribonucleoproteins, structural variants, Chemical engineering, TP155-156, Biotechnology, TP248.13-248.65, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2380-6761

URL الوصول: https://doaj.org/article/9308479efb334e27a2c50270e92fd7fe

المؤلفون: Farzad Alipour, Mana Ahmadraji, Elham Yektadoost, Parvaneh Mohammadi, Hossein Baharvand, Mohsen Basiri

المصدر: Cell Journal, Vol 25, Iss 10, Pp 665-673 (2023)

مصطلحات موضوعية: col7a1, crispr/cas9, keratinocyte, recessive dystrophic epidermolysis bullosa, Medicine, Science

وصف الملف: electronic resource

Relation: https://www.celljournal.org/article_706590_5c1033e0abb7efb984edb10d04f4c9ee.pdf; https://doaj.org/toc/2228-5806; https://doaj.org/toc/2228-5814

URL الوصول: https://doaj.org/article/cfd06def759946b0afbbd2684fc2e58c

المؤلفون: Alexey A. Kubanov, Vadim V. Chikin, Arfenya E. karamova

المصدر: Vestnik Dermatologii i Venerologii, Vol 99, Iss 4, Pp 60-83 (2023)

مصطلحات موضوعية: dystrophic epidermolysis bullosa, col7a1, collagen vii, hinge region, glycine substitutions, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://vestnikdv.ru/jour/article/viewFile/13281/pdf_2; https://doaj.org/toc/0042-4609; https://doaj.org/toc/2313-6294

URL الوصول: https://doaj.org/article/67670c8afc0b4ccdb84d68cdc7482274

المؤلفون: Azusa Ida, Osamu Ishikawa, Akihiko Uchiyama, Eijiro Akasaka

المصدر: Journal of Cutaneous Immunology and Allergy, Vol 7 (2024)

مصطلحات موضوعية: dystrophic epidermolysis bullosa pruriginosa, hinge region, novel mutation, COL7A1, genotype-phenotype correlation, Dermatology, RL1-803, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontierspartnerships.org/articles/10.3389/jcia.2024.12844/full; https://doaj.org/toc/2574-4593

URL الوصول: https://doaj.org/article/8ef8865f1e0c403590775e92c49ca3db

المؤلفون: Caushaj R, Bellinato F, Gisondi P, Girolomoni G

المساهمون: Caushaj, R, Bellinato, F, Gisondi, P, Girolomoni, G

مصطلحات موضوعية: Pretibial dystrophic epidermolysis bullosa, JAKInhibitor, Upadacitinib, refractory epidermolysis bullosa

Relation: firstpage:1; lastpage:4; numberofpages:4; journal:ANNALS OF CASE REPORTS; https://hdl.handle.net/11562/1143107

الاتاحة: https://hdl.handle.net/11562/1143107
https://doi.org/10.29011/2574-7754.101951

المؤلفون: Quintana Castanedo, Lucía, Sánchez Ramón, Silvia María, Illera, Nuria, Zuluaga Arias, María Del Pilar, Martínez Santamaría, Lucía, Fernández Arquero, Miguel, Río, Marcela del, Vicente López, María Ángeles, Escámez, María José, Sacedón Ayuso, Rosa

مصطلحات موضوعية: 616.5, Recessive Dystrophic Epidermolysis Bullosa, Inflammation, Immunodeficiency, Cytokines, Immunoglobulins, Ciencias Biomédicas, 24 Ciencias de la Vida

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-119792RB-I00/ES/HACIA UNA MEJOR COMPRENSION DE LAS BASES BIOLOGICAS DE LA EB Y EL DESARROLLO DE TERAPIAS MODIFICADORAS Y CURATIVAS PARA EL MANEJO DE LAS CONSECUENCIAS CUTANEAS GRAVES/; info:eu-repo/grantAgreement/MICINN/PID2020/1230680B-100; info:eu-repo/grantAgreement/EC/NextGenerationEU/RICORS-TERAV 100RD21/0017/0033; info:eu-repo/grantAgreement/EC/NextGenerationEU/RICORS-TERAV RD21/0017/0010; Quintana-Castanedo L, Sánchez-Ramón S, Maseda R, et al. Unveiling the value of C-reactiveprotein as a severity biomarker and the IL4/IL13 pathway asa therapeutic target in recessive dystrophic epidermolysisbullosa: A multiparametric cross-sectional study. ExpDermatol. 2024;33:e15146. doi:10.1111/exd.15146help; https://hdl.handle.net/20.500.14352/107670

الاتاحة: https://hdl.handle.net/20.500.14352/107670
https://doi.org/10.1111/exd.15146

المؤلفون: Bremer, J., Pas, H. H., Diercks, G. F.H., Meijer, H. J., van der Molen, S. M., Nijenhuis, A. M., van Nijen-Vos, L. L., Morandé, P., Yubero, M. J., Palisson, F., Fuentes, I., Pasmooij, A. M.G.

المصدر: Bremer , J , Pas , H H , Diercks , G F H , Meijer , H J , van der Molen , S M , Nijenhuis , A M , van Nijen-Vos , L L , Morandé , P , Yubero , M J , Palisson , F , Fuentes , I & Pasmooij , A M G 2024 , ' Patients suffering from dystrophic epidermolysis bullosa are prone to developing autoantibodies against skin proteins : A longitudinal confirmational study ' , Experimental dermatology , vol. 33 , no. 2 , e15035 . https://doi.org/10.1111/exd.15035

مصطلحات موضوعية: autoantibodies, dystrophic epidermolysis bullosa, junctional epidermolysis bullosa, serological follow-up, Type VII collagen

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/1e97edc4-6f65-4c73-818f-46694fbe7644
https://research.rug.nl/en/publications/1e97edc4-6f65-4c73-818f-46694fbe7644
https://doi.org/10.1111/exd.15035
https://pure.rug.nl/ws/files/1055771649/Patients_suffering_from_dystrophic_epidermolysis_bullosa_areprone_to_developing_autoantibodies_against_skin_proteins-.pdf
http://www.scopus.com/inward/record.url?scp=85185862173&partnerID=8YFLogxK

المؤلفون: Karamova A.E., Kubanov A.A., Vorotelyak E.A., Rogovaya O.S., Chikin V.V., Nefedova M.A., Monchakovskaya E.S.

المصدر: Vestnik dermatologii i venerologii; Vol 99, No 6 (2023); 29-36 ; Вестник дерматологии и венерологии; Vol 99, No 6 (2023); 29-36 ; 2313-6294 ; 0042-4609 ; 10.25208/vdv.996

مصطلحات موضوعية: inherited epidermolysis bullosa, junctional epidermolysis bullosa, recessive dystrophic epidermolysis bullosa, erosions, healing, topical treatment, врожденный буллезный эпидермолиз, пограничный буллезный эпидермолиз, рецессивный дистрофический буллезный эпидермолиз, эрозии, заживление, наружная терапия

وصف الملف: application/pdf

Relation: https://vestnikdv.ru/jour/article/view/16249/pdf_3; https://vestnikdv.ru/jour/article/view/16249/pdf_2; https://vestnikdv.ru/jour/article/downloadSuppFile/16249/154372; https://vestnikdv.ru/jour/article/downloadSuppFile/16249/154373; https://vestnikdv.ru/jour/article/downloadSuppFile/16249/154374; https://vestnikdv.ru/jour/article/downloadSuppFile/16249/158096; https://vestnikdv.ru/jour/article/downloadSuppFile/16249/158097; https://vestnikdv.ru/jour/article/downloadSuppFile/16249/158217; https://vestnikdv.ru/jour/article/downloadSuppFile/16249/158218; https://vestnikdv.ru/jour/article/downloadSuppFile/16249/158098; https://vestnikdv.ru/jour/article/view/16249

الاتاحة: https://vestnikdv.ru/jour/article/view/16249
https://doi.org/10.25208/vdv16249

المؤلفون: Antonella Vimercati, Gerardo Cazzato, Lucia Lospalluti, Stefania Foligno, Cristina Taliento, Katarzyna Beata Trojanowska, Ettore Cicinelli, Domenico Bonamonte, Dario Caliandro, Amerigo Vitagliano, Pierpaolo Nicolì

المصدر: Diseases, Vol 12, Iss 5, p 104 (2024)

مصطلحات موضوعية: dystrophic epidermolysis bullosa, pregnancy, delivery, management, Medicine

Relation: https://www.mdpi.com/2079-9721/12/5/104; https://doaj.org/toc/2079-9721; https://doaj.org/article/710b78d1dd8a4789858f88509498c432

الاتاحة: https://doi.org/10.3390/diseases12050104
https://doaj.org/article/710b78d1dd8a4789858f88509498c432

المؤلفون: Hélène Ragot, Sonia Gaucher, Mathilde Bonnet des Claustres, Justine Basset, Rose Boudan, Maxime Battistella, Emmanuelle Bourrat, Alain Hovnanian, Matthias Titeux

المصدر: Cancers, Vol 16, Iss 13, p 2476 (2024)

مصطلحات موضوعية: recessive dystrophic epidermolysis bullosa, cutaneous squamous cell carcinoma, citrullinated histone H3, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

Relation: https://www.mdpi.com/2072-6694/16/13/2476; https://doaj.org/toc/2072-6694; https://doaj.org/article/b1060d98561640f2b3afa26fa8f55067

الاتاحة: https://doi.org/10.3390/cancers16132476
https://doaj.org/article/b1060d98561640f2b3afa26fa8f55067

المؤلفون: Stefan Hainzl, Lisa Trattner, Bernadette Liemberger, Johannes Bischof, Thomas Kocher, Michael Ablinger, Alexander Nyström, Astrid Obermayer, Alfred Klausegger, Christina Guttmann-Gruber, Verena Wally, Johann W. Bauer, Josefina Piñón Hofbauer, Ulrich Koller

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 2, p 761 (2024)

مصطلحات موضوعية: COL7A1, antisense oligonucleotides, splicing modulation, recessive dystrophic epidermolysis bullosa, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/2/761; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/f6c6fac63a0c44b4a531dd18e342149b

الاتاحة: https://doi.org/10.3390/ijms25020761
https://doaj.org/article/f6c6fac63a0c44b4a531dd18e342149b