Source: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESInternational Journal of Molecular Sciences, Vol 22, Iss 3326, p 3326 (2021)International Journal of Molecular SciencesVolume 22Issue

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Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa

Authors : Jasmin K. Kroeger; Silke C. Hofmann; Juna Leppert

Subjects: Male; Protein Conformation, alpha-Helical; 0301 basic medicine

Source: Human Molecular Genetics. 26:479-488

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A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa

Authors : G. Grüninger; Antonia Reimer; Julia Hoffmann

Subjects: Keratinocytes; Pathology; medicine.medical_specialty

Source: Acta Dermato-Venereologica, Vol 99, Iss 4, Pp 460-461 (2019)

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Life before and beyond blistering: The role of collagen XVII in epidermal physiology

Authors : Mika Watanabe; Wataru Nishie; Ken Natsuga

Subjects: 0301 basic medicine; Keratinocytes; Dermatology

Source: Experimental dermatologyREFERENCES. 28(10)

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Type XVII collagen coordinates proliferation in the interfollicular epidermis

Authors : Hideyuki Ujiie; Hiroshi Shimizu; Mika Watanabe

Subjects: Genetics and Molecular Biology (all); 0301 basic medicine; Mouse

Source: eLife, Vol 6 (2017)eLifeWatanabe, M, Natsuga, K, Nishie, W, Kobayashi, Y, Donati, G, Suzuki, S, Fujimura, Y, Tsukiyama, T, Ujiie, H, Shinkuma, S, Nakamura, H, Murakami, M, Ozaki, M,

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Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy

Authors : Marta García; María José Escámez; Alvaro Meana ...

Subjects: Keratinocytes; EXPRESSION; JUNCTIONAL EPIDERMOLYSIS-BULLOSA

Source: Journal of Investigative Dermatology, 134(2), 571-574. ELSEVIER SCIENCE INCDigital.CSIC. Repositorio Institucional del CSICinstnameResearcherIDHuman Gene Therapy, 24(12). MARY

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Laminin 332 in junctional epidermolysis bullosa

Authors : Cristina Has; Leena Bruckner-Tuderman; Dimitra Kiritsi

Subjects: Aging; Review; Junctional epidermolysis bullosa (medicine)

Source: Cell Adhesion & Migration. 7:135-141

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Molecular Mechanisms of Junctional Epidermolysis Bullosa: Col15 Domain Mutations Decrease the Thermal Stability of Collagen XVII

Authors : C. Franzke; Leena Bruckner-Tuderman; Marja-Leena Tuomi

Subjects: Adult; Male; Molecular Sequence Data

Source: Journal of Investigative Dermatology. 125:1112-1118

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نتائج البحث

فلترة النتائج

The intracellular domain of BP180/collagen XVII is intrinsically disordered and partially folds in an anionic membrane lipid-mimicking environment

Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa

Personalized development of antisense oligonucleotides for exon skipping restores type XVII collagen expression in junctional epidermolysis bullosa

Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa

A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa

Life before and beyond blistering: The role of collagen XVII in epidermal physiology

Type XVII collagen coordinates proliferation in the interfollicular epidermis

Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy

Laminin 332 in junctional epidermolysis bullosa

Molecular Mechanisms of Junctional Epidermolysis Bullosa: Col15 Domain Mutations Decrease the Thermal Stability of Collagen XVII

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