Results 51 to 60 of about 4,117 (196)

COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa

British Journal of Dermatology, 2007
open
S-W, Oh, J S, Lee, M Y, Kim, S-C, Kim
openaire   +3 more sources

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

Advanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu, Zhou Jiang, Lin Chen, Gowena Ling Yi Goh, Weijing Li, Qian He, Xintong Chen, Rui Li, Yuxuan Liu, Ning Li, Tao Zhou, Peng Xu   +11 more
wiley   +1 more source

Automating AI Discovery for Biomedicine Through Knowledge Graphs and Large Language Models Agents

Advanced Intelligent Discovery, EarlyView.
This work proposes a novel framework that automates biomedical discovery by integrating knowledge graphs with multiagent large language models. A biologically aligned graph exploration strategy identifies hidden pathways between biomedical entities, and specialized agents use this pathway to iteratively design AI predictors and wet‐lab validation ...
Naafey Aamer, Muhammad Nabeel Asim, Shan Munir, Andreas Dengel   +3 more
wiley   +1 more source

COL7A1 mutation analysis.

, 2012
Electropherograms of the COL7A1 c.4756C>T mutation. Representative sequence traces of PCR products amplified from genomic DNA of 3 cattle with the different genotypes are shown.
Monika Welle (159144), Cord Drögemüller (132266), Annie Menoud (159139), Jens Tetens (132258), Peter Lichtner (132255)   +4 more
core   +1 more source

Fibroblasts Show More Potential as Target Cells than Keratinocytes in COL7A1 Gene Therapy of Dystrophic Epidermolysis Bullosa [PDF]

, 2006
Dystrophic epidermolysis bullosa (DEB) is an inherited blistering skin disorder caused by mutations in the type VII collagen gene (COL7A1). Therapeutic introduction of COL7A1 into skin cells holds significant promise for the treatment of DEB. The purpose
Abe, Masataka, Ito, Kei, Goto, Maki, Akiyama, Masashi, Sawamura, Daisuke, Shimizu, Hiroshi, Nishie, Wataru, Sakai, Kaori, Shibaki, Akihiko   +8 more
core   +1 more source

Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease

Disease Models & Mechanisms, 2021
Heterozygous missense mutations in the human COL7A1 gene – coding for collagen VII – lead to the rare, dominantly inherited skin disorder dominant dystrophic epidermolysis bullosa (DDEB), which is characterised by skin fragility, blistering, scarring and
Blake R. C. Smith, Alexander Nyström, Cameron J. Nowell, Ingrid Hausser, Christine Gretzmeier, Susan J. Robertson, George A. Varigos, Cristina Has, Johannes S. Kern, Ken C. Pang   +9 more
doaj   +1 more source

Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis

Animal Research and One Health, EarlyView.
Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li, Yuchen He, Yangshuo Hu, Naominggaowa, Huaiqiang Yang, Zhu Meng, Fei Liu, Shiwen Zhang, Yi Jin, Mingxing Chu, Zhangyuan Pan   +10 more
wiley   +1 more source

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa [PDF]

Experimental Dermatology, 2008
Abstract:  Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (COL7A1). To date, 324 pathogenic mutations have been detected within COL7A1 in different variants of DEB; many mutations are clustered in exon 73 (10.74%)
Ningning, Dang, Dédée F, Murrell
openaire   +2 more sources

Genomics and epigenomics of tissue repair: Implications for personalized medicine

Precision Medical Sciences, EarlyView.
Genomic and epigenomic mechanisms govern tissue repair and regeneration through dynamic regulation of inflammation, cell fate, and extracellular matrix remodeling. The integration of multi‐omics, artificial intelligence, and precision regenerative therapies enables biomarker‐driven, personalized approaches to enhance healing and minimize fibrosis ...
Jharna Medhi, Chandrashekar Thalluri, Sarad Pawar Naik Bukke, Piyali Dey, Mallikarjun Vasam, Ananda Kumar Chettupalli, Swetha Kumari Koduru, Gali Avinash Kumar   +7 more
wiley   +1 more source

A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong, Joseph Joseph, Deborah Poh, Orli Wargon, Artiene Tatian   +4 more
wiley   +1 more source