Results 161 to 170 of about 4,117 (196)

Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa. [PDF]

Int J Mol Sci
Buianova AA, Yagizarova AS, Kosykh AV, Kubanov AA, Belova VA, Shmitko AO, Karamova AE, Martynova AA, Podmoskovnikov GS, Nefedova MA, Monchakovskaya ES, Korostin DO, Gurskaya NG, Rebrikov DV.   +13 more
europepmc   +1 more source

Integrated clinicopathological, genomic, and immunophenotypic landscape of renal tubulocystic oncocytoma. [PDF]

Front Immunol
Wang W, Zhu H, Chen C, Sun M, Wang H, Tai Y, Chen S, Liu Z, Fan B, Li Y.   +9 more
europepmc   +1 more source

Human urine-derived stem cells rescue cutaneous manifestation and suppress inflammation and fibrosis <i>in vitro</i> and in a mouse model of recessive dystrophic epidermolysis bullosa. [PDF]

Burns Trauma
Zhou X, Tan J, Song Y, Liu P, Zhang X, Feng X, Xiao Y, Wang Y, Liu G, Zhang W, Zhang Q, Jiang Y, Liu Y, Zhao L, Xie H, Li W.   +15 more
europepmc   +1 more source

COL7A1 Expression Improves Prognosis Prediction for Patients with Clear Cell Renal Cell Carcinoma Atop of Stage

Cancers, 2023
International audienceClear-cell renal cell carcinoma (ccRCC) accounts for 75% of kidney cancers. Due to the high recurrence rate and treatment options that come with high costs and potential side effects, a correct prognosis of patient survival is ...
Claude Cochet, Laurent Guyon, Odile Filhol   +2 more
exaly   +2 more sources

Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1 [PDF]

International Journal of Molecular Sciences, 2020
The COL7A1 gene encodes homotrimer fibrils essential for anchoring dermal and epidermal layers, and pathogenic mutations in COL7A1 can cause recessive or dominant dystrophic epidermolysis bullosa.
May T Aung-Htut, Kristin A Ham, Sue Fletcher   +2 more
exaly   +3 more sources

COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents

International Journal of Molecular Sciences, 2023
Mutations in the COL7A1 gene lead to malfunction, reduction or complete absence of type VII collagen (C7) in the skin’s basement membrane zone (BMZ), impairing skin integrity.
Johannes Bischof, Christina Gruber, Verena Wally   +2 more
exaly   +2 more sources

Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa

Molecular Therapy, 2022
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin fragility disorder caused by loss-of-function mutations in the COL7A1 gene, which encodes type VII collagen (C7), a protein that functions in skin adherence. From 36 Korean RDEB patients,
Song Ee Kim, Soo-Chan Kim, Sung-Ah Hong
exaly   +3 more sources

COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa [PDF]

Molecular Therapy, 2017
Designer nucleases allow specific and precise genomic modifications and represent versatile molecular tools for the correction of disease-associated mutations. 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 ...
Stefan Hainzl, Thomas Kocher
exaly   +3 more sources