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Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosa
Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosa
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Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosa

GACHE, Yannick ; BALDESCHI, Christine ; DEL RIO, Marcela ; GAGNOUX-PALACIOS, Laurent ; LARCHER, Fernando ; LACOUR, Jean-Philippe ; MENEGUZZI, Guerrino

Human gene therapy, 2004-10, Vol.15 (10), p.921-933 [Periódico revisado por pares]

Larchmont, NY: Liebert

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2
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

van den Akker, Peter C ; Mellerio, Jemima E ; Martinez, Anna E ; Liu, Lu ; Meijer, Rowdy ; Dopping-Hepenstal, Patricia J C ; van Essen, Anthonie J ; Scheffer, Hans ; Hofstra, Robert M W ; McGrath, John A ; Jonkman, Marcel F

Journal of medical genetics, 2011-03, Vol.48 (3), p.160-167 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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3
Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon
Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon
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Efficiency of translation termination in humans is highly dependent upon nucleotides in the neighbourhood of a (premature) termination codon

Pacho, Frederic ; Zambruno, Giovanna ; Calabresi, Valentina ; Kiritsi, Dimitra ; Schneider, Holm

Journal of medical genetics, 2011-09, Vol.48 (9), p.640-644 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect
Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect
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Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect

Nyström, Alexander ; Buttgereit, Jens ; Bader, Michael ; Shmidt, Tatiana ; Ozcelik, Cemil ; Hausser, Ingrid ; Bruckner-Tuderman, Leena ; Kern, Johannes S Wiche, Gerhard

PloS one, 2013-05, Vol.8 (5), p.e64243 [Periódico revisado por pares]

United States: Public Library of Science

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5
Gene therapy and its application in dermatology
Gene therapy and its application in dermatology
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Gene therapy and its application in dermatology

Sarkar, Tanusree ; Sarkar, Somenath ; Gangopadhyay, Dwijendra

Indian journal of dermatology, 2020-09, Vol.65 (5), p.341-350 [Periódico revisado por pares]

Kolkata: Wolters Kluwer India Pvt. Ltd

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6
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease
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Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease

MÜHLE, Christiane ; JIANG, Qiu-Jie ; CHARLESWORTH, Alexandra ; BRUCKNER-TUDERMAN, Leena ; MENEGUZZI, Guerrino ; SCHNEIDER, Holm

Human genetics, 2005-01, Vol.116 (1-2), p.33-42 [Periódico revisado por pares]

Heidelberg: Springer

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7
Skin substitutes in dermatology
Skin substitutes in dermatology
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Skin substitutes in dermatology

Anish, Sudha

Indian journal of dermatology, venereology, and leprology, 2015-03, Vol.81 (2), p.175-178

India: Medknow Publications and Media Pvt. Ltd

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8
Oxidative stress and mitochondrial dysfunction in Kindler syndrome
Oxidative stress and mitochondrial dysfunction in Kindler syndrome
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Oxidative stress and mitochondrial dysfunction in Kindler syndrome

Zapatero-Solana, Elisabeth ; García-Giménez, Jose Luis ; Guerrero-Aspizua, Sara ; García, Marta ; Toll, Agustí ; Baselga, Eulalia ; Durán-Moreno, Maria ; Markovic, Jelena ; García-Verdugo, Jose Manuel ; Conti, Claudio J ; Has, Cristina ; Larcher, Fernando ; Pallardó, Federico V ; Del Rio, Marcela

Orphanet journal of rare diseases, 2014-12, Vol.9 (1), p.211-211, Article 211 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa
Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa
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Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa

Kiener, Sarah ; Troyer, Heather ; Ruvolo, Daniel ; Grest, Paula ; Soto, Sara ; Letko, Anna ; Jagannathan, Vidhya ; Leeb, Tosso ; Mauldin, Elizabeth A ; Yang, Ching ; Rostaher, Ana

Genes, 2023-09, Vol.14 (10), p.1835 [Periódico revisado por pares]

Switzerland: MDPI AG

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10
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants
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Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Varki, R ; Sadowski, S ; Pfendner, E ; Uitto, J

Journal of medical genetics, 2006-08, Vol.43 (8), p.641-652 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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