Articles
Observations of dystrophic epidermolysis bullosa patients with collagen VII NC2 truncation provide new insights into anchoring fibril assembly
Matrix Biol. 2026 Mar 3:S0945-053X(26)00022-3. doi: 10.1016/j.matbio.2026.03.001. Epub ahead of print. PMID: 41786094. Observations of dystrophic epidermolysis bullosa patients with collagen VII NC2 truncation provide new […]Cross-sectional analysis of wound-associated soluble factors in early, established, and chronic wounds of recessive dystrophic epidermolysis bullosa patients
Arch Dermatol Res. 2025 Jun 4;317(1):796. doi: 10.1007/s00403-025-04293-w. PMID: 40464793; PMCID: PMC12137523. Cross-sectional analysis of wound-associated soluble factors in early, established, and chronic wounds of recessive […]Double-sided niche regulation in skin stem cell and cancer: mechanisms and clinical applications
Mol Cancer. 2025 May 21;24(1):147. doi: 10.1186/s12943-025-02289-8. PMID: 40399946; PMCID: PMC12093937. Double-sided niche regulation in skin stem cell and cancer: mechanisms and clinical applications Authors: Trang […]A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
BMC Med Genomics. 2025 Feb 4;18(1):26. doi: 10.1186/s12920-024-02077-1. PMID: 39905456; PMCID: PMC11796174. A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa Authors: Saira Sattar 1 2, Thashi […]Systems immunology integrates the complex endotypes of recessive dystrophic epidermolysis bullosa
Nat Commun. 2025 Jan 14;16(1):664. doi: 10.1038/s41467-025-55934-7. PMID: 39809737; PMCID: PMC11733305. Systems immunology integrates the complex endotypes of recessive dystrophic epidermolysis bullosa Authors: Nell Hirt # 1, Enzo Manchon # 1, Qian […]Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa
Br J Dermatol. 2025 Jan 10:ljaf015. doi: 10.1093/bjd/ljaf015. Epub ahead of print. PMID: 39790012. Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa […]Chondroitin sulfate proteoglycan 4 increases invasion of recessive dystrophic epidermolysis bullosa-associated cutaneous squamous cell carcinoma by modifying transforming growth factor-β signalling
Br J Dermatol. 2024 Dec 23;192(1):104-117. doi: 10.1093/bjd/ljae295. PMID: 39018437; PMCID: PMC11663483 Chondroitin sulfate proteoglycan 4 increases invasion of recessive dystrophic epidermolysis bullosa-associated cutaneous squamous cell […]Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa
Eur J Hum Genet. 2024 Dec 5. doi: 10.1038/s41431-024-01717-5. Epub ahead of print. PMID: 39639148. Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter […]Alterations in the microenvironment of junctional epidermolysis bullosa keratinocytes: a gene expression study
Matrix Biol. 2024 Nov 28:S0945-053X(24)00141-0. doi: 10.1016/j.matbio.2024.11.005. Epub ahead of print. PMID: 39615637 Alterations in the microenvironment of junctional epidermolysis bullosa keratinocytes: a gene expression study […]Biochemical characterization of the feedforward loop between CDK1 and FOXM1 in epidermal stem cells
Biol Direct. 2024 Oct 13;19(1):91. doi: 10.1186/s13062-024-00540-8. PMID: 39396994; PMCID: PMC11472434. Biochemical characterization of the feedforward loop between CDK1 and FOXM1 in epidermal stem cells Authors: […]Granzyme B inhibition reduces autoantibody-induced dermal-epidermal separation in an ex vivo model of epidermolysis bullosa acquisita
Exp Dermatol. 2024 Sep;33(9):e15172. doi: 10.1111/exd.15172. PMID: 39219105 Granzyme B inhibition reduces autoantibody-induced dermal-epidermal separation in an ex vivo model of epidermolysis bullosa acquisita Authors: Shirin Emtenani 1, Hélène […]Biomechanical properties of laminins and their impact on cancer progression
Biochim Biophys Acta Rev Cancer. 2024 Sep 18;1879(6):189181. doi: 10.1016/j.bbcan.2024.189181. Epub ahead of print. PMID: 39299492. Biomechanical properties of laminins and their impact on cancer progression […]Epidermal stem cells: skin surveillance and clinical perspective
Transl Med. 2024 Aug 22;22(1):779. doi: 10.1186/s12967-024-05600-1. PMID: 39169334; PMCID: PMC11340167. Epidermal stem cells: skin surveillance and clinical perspective Authors: Xin Tang # 1, Jiaqi Wang # 1, Jiaoling Chen # 1, Wanting Liu 1, Pei Qiao 1, Huiyi […]Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa
Proc Natl Acad Sci U S A. 2024 Aug 27;121(35):e2401781121. doi: 10.1073/pnas.2401781121. Epub 2024 Aug 19. PMID: 39159368. Splice modulation strategy applied to deep intronic variants […]Coordinating energy metabolism and signaling pathways in epithelial self-renewal and differentiation
Biol Direct. 2024 Aug 7;19(1):63. doi: 10.1186/s13062-024-00510-0. PMID: 39113077; PMCID: PMC11308432. Coordinating energy metabolism and signaling pathways in epithelial self-renewal and differentiation Authors: Maria Pia Polito # 1, Alessio […]Emergence and properties of adult mammalian epidermal stem cells
Dev Biol. 2024 Jul 24:S0012-1606(24)00194-5. doi: 10.1016/j.ydbio.2024.07.014. Epub ahead of print. PMID: 39059680. Emergence and properties of adult mammalian epidermal stem cells Authors: Purna S Gadre 1, Pavlina […]Exploring stem cell frontiers: definitions, challenges, and perspectives for regenerative medicine
Biol Open. 2024 Apr 15;13(4):bio060245. doi: 10.1242/bio.060245. Epub 2024 Apr 9. PMID: 38592154 Exploring stem cell frontiers: definitions, challenges, and perspectives for regenerative medicine Authors: Miriana […]CRISPR technology: A decade of genome editing is only the beginning
Science. 2023 Jan 20;379(6629):eadd8643. doi: 10.1126/science.add8643. Epub 2023 Jan 20. PMID: 36656942. CRISPR technology: A decade of genome editing is only the beginning Authors: Joy Y […]Gamma-secretase inhibitors down-regulate the pro-fibrotic Notch signaling pathway in recessive dystrophic epidermolysis bullosa
J Invest Dermatol. 2024 Jan 16:S0022-202X(24)00001-0. doi: 10.1016/j.jid.2023.10.045. Epub ahead of print. PMID: 38237731. Gamma-secretase inhibitors down-regulate the pro-fibrotic Notch signaling pathway in recessive dystrophic epidermolysis […]Hallmarks of stemness in mammalian tissues
Cell Stem Cell. 2024 Jan 4;31(1):7-24. doi: 10.1016/j.stem.2023.12.006. PMID: 38181752; PMCID: PMC10769195. Hallmarks of stemness in mammalian tissues Authors: Beumer J, Clevers H. Affiliation: Abstract: All […]Genotype-phenotype correlation in Junctional Epidermolysis Bullosa: signposts to severity
J Invest Dermatol. 2023 Dec 27:S0022-202X(23)03205-0. doi: 10.1016/j.jid.2023.11.021. Epub ahead of print. PMID: 38157931. Genotype-phenotype correlation in Junctional Epidermolysis Bullosa: signposts to severity Authors: David Wen 1, Manrup […]p63: a crucial player in epithelial stemness regulation
Oncogene. 2023 Oct 17. doi: 10.1038/s41388-023-02859-4. Epub ahead of print. PMID: 37848625. p63: a crucial player in epithelial stemness regulation Authors: Yanan Li 1 2, Sara Giovannini 1, Tingting Wang 2, Jiankai Fang 2, Peishan […]Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Pediatr Dermatol. 2023 Oct 12. doi: 10.1111/pde.15440. Epub ahead of print. PMID: 37827535. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis […]Next-generation sequencing in dermatology
Front Med (Lausanne). 2023 Sep 29;10:1218404. doi: 10.3389/fmed.2023.1218404. PMID: 37841001; PMCID: PMC10570430. Next-generation sequencing in dermatology Authors: Andrew D. King, 1 Hany Deirawan, 1 Paytra A. Klein, 2 Bahar Dasgeb, 3 Catherine I. […]Assessing the epidemiological factors of epidermolysis bullosain Shiraz, the referral center of Southern Iran
JCIMCR Assessing the epidemiological factors of epidermolysis bullosain Shiraz, the referral center of Southern Iran Authors: Ali Akbar Mohammadi1,2; Nasrin Saki3,4; Mohammad Mahdi Parvizi4, Amir Hossein […]Painting and dissecting Epidermolysis Bullosa Simplex-associated keratin aggregates
Journal of Dermatological Science, Pre-proof, 2023 August 29, https://doi.org/10.1016/j.jdermsci.2023.08.007 Painting and dissecting Epidermolysis Bullosa Simplex-associated keratin aggregates Authors: Katrin Rietscher1, Melanie Homberg1, Ilya Kovalenko2,3,4,5, Jonathan Z. […]Applications and sensory utilizations of magnetic levitation in 3D cell culture for tissue Engineering
Keywords: 3D cell culture; Magnetic levitation; Magnetic nanoparticle; Regenerative medicine; Scaffold-based and scaffold-free tissue engineering.Low temperature and mTOR inhibition favor stemcell maintenance in human keratinocyte cultures
EMBO Rep. 2023 Jun 5;24(6):e55439. doi: 10.15252/embr.202255439. Epub 2023 May 4. PMID: 37139607; PMCID: PMC10240198. Low temperature and mTOR inhibition favor stem cell maintenance in human […]Generation and characterization of induced pluripotent stem cell lines from two patients with recessive dystrophic epidermolysis Bullosa
Stem Cell Res. 2023 Jun;69:103104. doi: 10.1016/j.scr.2023.103104. Epub 2023 Apr 24. PMID: 37148821. Generation and characterization of induced pluripotent stem cell lines from two patients with […]Decoding the Human Epidermal Complexity at Single-Cell Resolution
Keywords: human keratinocyte; stem cell; single-cell analysis; skin; inflammatory disease; wound healingMaintenance of chronicity signatures in fibroblasts isolated from recessive dystrophic epidermolysis bullosa chronic wound dressings under culture conditions
Biol Res. 2023 May 10;56(1):23. doi: 10.1186/s40659-023-00437-2. PMID: 37161592; PMCID: PMC10170710. Maintenance of chronicity signatures in fibroblasts isolated from recessive dystrophic epidermolysis bullosa chronic wound dressings […]Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa
Biomolecules. 2023 Apr 25;13(5):740. doi: 10.3390/biom13050740. PMID: 37238610; PMCID: PMC10216840. Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa Authors: Grace Tartaglia 1, Pyung Hun Park 1, Michael […]Clonal analysis of human clonogenic keratinocytes
Methods Cell Biol. 2022;170:101-116. doi: 10.1016/bs.mcb.2022.02.009. Epub 2022 Apr 18. PMID: 35811094. Clonal analysis of human clonogenic keratinocytes Authors: Elena Enzo 1, Camilla Cattaneo 1, Federica Consiglio 2, Maria Pia Polito 1, Sergio Bondanza 2, Michele […]A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa
Mol Ther Nucleic Acids. 2021 May 29;25:237-250. doi: 10.1016/j.omtn.2021.05.015. PMID: 34458008; PMCID: PMC8368800. A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa […]