Results 101 to 110 of about 3,777 (193)

MUC16 and COL7A1 in ECM Remodeling in Lung Adenocarcinoma Metastasis

Lung adenocarcinoma (LUAD) remains one of the deadliest cancers globally, mainly due to its aggressive metastatic potential. Emerging evidence implicates extracellular matrix (ECM) remodeling as a critical driver of tumor progression.
Castillo Daura, Daniela
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COL7A1 Gene Mutation [PDF]

, 2020
openaire   +1 more source

Ultraviolet（ UV）-and UV-related cytokine-mediated transcriptional mechanisms of type VII collagen gene（ COL7A1） expression in the skin, with special reference to photoaged skin and anti-aging [PDF]

application/pdfChronic ultraviolet （UV） radiation results in photoaged skin characterized by deep wrinkle formation. Recent studies suggest that diminishment of anchoring fi brils（ AF）, stabilizing the association of the basement membrane to the ...
Yamaguchi, Masanori, Igarashi, Manami, Kojima, Kaoru, Kon, Atsushi   +3 more
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Modulation of Disease Severity of Dystrophic Epidermolysis Bullosa By a Splice Site Mutation in Combination with a Missense Mutation in the COL7A1 Gene [PDF]

, 2017
Dystrophic epidermolysis bullosa (EBD) is a clinically heterogeneous skin disorder, characterized by abnormal anchoring fibrils (AF) and loss of dermal-epidermal adherence.
Winberg, Jan-Olof, Zimmermann, Mirjam, Hammami-Hauasli, Nadja, Gedde-Dahl, Tobias, Anton-Lamprecht, Ingrun, Krajci, Peter, Kerbacher, Karen, Nilssen, Øivind, Naylor, Susan L., Bruckner-Tuderman, Leena   +9 more
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Highly efficient CRISPR/Cas9‐mediated exon skipping for recessive dystrophic epidermolysis bullosa

Bioengineering & Translational Medicine
Gene therapy based on the CRISPR/Cas9 system has emerged as a promising strategy for treating the monogenic fragile skin disorder recessive dystrophic epidermolysis bullosa (RDEB).
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   +12 more
doaj   +1 more source

COL7A1 wt Allele [PDF]

, 2020
openaire   +1 more source

Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa

, 2013
Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis characterised by trauma-induced blister formation beneath the lamina densa in the papillary dermis. Other clinical findings include atrophic scarring, milia formation, fusion of digits, nail
CHIARELLI, Nicola, CALZAVARA PINTON, Piergiacomo, VENTURINI, Marina, RITELLI, Marco Giuseppe, COLOMBI, Marina, Dordoni, Chiara, QUINZANI, Stefano   +6 more
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COL7A1 Exon 73 Mutation [PDF]

, 2020
openaire   +1 more source

Análise molecular de mutações associadas ao Gene COL7A1 na Epidermólise Bolhosa Distrófica (EBD) [PDF]

, 2016
A Epidermólise Bolhosa Distrófica (EBD) é o tipo mais grave clinicamente dentre o grupo das Epidermólises Bolhosas. É subdividida em quatro subtipos, dois dominantes (EBDD) e dois recessivos (EBDR), todos provocados por mutações no gene COL7A1, que ...
Monteiro, Laura Lisieux dos Santos
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Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature

BMC Pediatrics
Epidermolysis Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary cause of EB.
Fatma Mabrouk Ali, Jieyu Zhou, Mingyan Wang, Qiuxia Wang, Lulu Sun, Mansour Maulid Mshenga, Hongyan Lu   +6 more
doaj   +1 more source