The genetics of skin fragility
Has, Cristina, Bruckner-Tuderman, Leena
Published in Annual review of genomics and human genetics (01.01.2014)
Published in Annual review of genomics and human genetics (01.01.2014)
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Journal Article
Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24
Pachis, Spyridon T., Ramovs, Veronika, Freund, Christian, Has, Cristina, Raymond, Karine
Published in Stem cell research (01.12.2024)
Published in Stem cell research (01.12.2024)
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Journal Article
Integrin α3 Mutations with Kidney, Lung, and Skin Disease
Has, Cristina, Spartà, Giuseppina, Kiritsi, Dimitra, Weibel, Lisa, Moeller, Alexander, Vega-Warner, Virginia, Waters, Aoife, He, Yinghong, Anikster, Yair, Esser, Philipp, Straub, Beate K, Hausser, Ingrid, Bockenhauer, Detlef, Dekel, Benjamin, Hildebrandt, Friedhelm, Bruckner-Tuderman, Leena, Laube, Guido F
Published in The New England journal of medicine (19.04.2012)
Published in The New England journal of medicine (19.04.2012)
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Journal Article
Palmoplantar keratodermas: clinical and genetic aspects
Has, Cristina, Technau-Hafsi, Kristin
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.02.2016)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.02.2016)
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Journal Article
Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa
Atanasova, Velina S., Jiang, Qiujie, Prisco, Marco, Gruber, Christina, Piñón Hofbauer, Josefina, Chen, Mei, Has, Cristina, Bruckner-Tuderman, Leena, McGrath, John A., Uitto, Jouni, South, Andrew P.
Published in Journal of investigative dermatology (01.09.2017)
Published in Journal of investigative dermatology (01.09.2017)
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Journal Article
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility
He, Yinghong, Maier, Kristin, Leppert, Juna, Hausser, Ingrid, Schwieger-Briel, Agnes, Weibel, Lisa, Theiler, Martin, Kiritsi, Dimitra, Busch, Hauke, Boerries, Melanie, Hannula-Jouppi, Katariina, Heikkilä, Hannele, Tasanen, Kaisa, Castiglia, Daniele, Zambruno, Giovanna, Has, Cristina
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Journal Article
Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-deficient Keratinocytes
Thriene, Kerstin, Grüning, Björn Andreas, Bornert, Olivier, Erxleben, Anika, Leppert, Juna, Athanasiou, Ioannis, Weber, Ekkehard, Kiritsi, Dimitra, Nyström, Alexander, Reinheckel, Thomas, Backofen, Rolf, Has, Cristina, Bruckner-Tuderman, Leena, Dengjel, Jörn
Published in Molecular & cellular proteomics (01.04.2018)
Published in Molecular & cellular proteomics (01.04.2018)
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Journal Article
Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa
Trefzer, Laura, Hess, Maria E, Scholten, Lena, Technau-Hafsi, Kristin, Meiss, Frank, Boerries, Melanie, Has, Cristina, Rafei-Shamsabadi, David
Published in Acta dermato-venereologica (20.06.2023)
Published in Acta dermato-venereologica (20.06.2023)
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Journal Article
Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine
Condrat, Irina, He, Yinghong, Cosgarea, Rodica, Has, Cristina
Published in Frontiers in medicine (29.01.2019)
Published in Frontiers in medicine (29.01.2019)
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Journal Article
Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa
He, Yinghong, Balasubramanian, Meena, Humphreys, Nigel, Waruiru, Catherine, Brauner, Martin, Kohlhase, Juergen, O'Reilly, Ruth, Has, Cristina
Published in Journal of investigative dermatology (01.05.2016)
Published in Journal of investigative dermatology (01.05.2016)
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Journal Article
A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
Hörer, Steffen, Marrakchi, Slaheddine, Radner, Franz P.W., Zolles, Gerd, Heinz, Lisa, Eichmann, Thomas O., Has, Cristina, Salavei, Pavel, Mahfoudh, Nadia, Turki, Hamida, Zimmer, Andreas D., Fischer, Judith
Published in Journal of investigative dermatology (01.10.2019)
Published in Journal of investigative dermatology (01.10.2019)
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Journal Article
Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa
Chmel, Nadja, Bornert, Olivier, Hausser, Ingrid, Grüninger, Gabriele, Borozkin, Wiktor, Kohlhase, Jürgen, Nyström, Alexander, Has, Cristina
Published in Journal of investigative dermatology (01.04.2018)
Published in Journal of investigative dermatology (01.04.2018)
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Journal Article
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis
Has, C, Küsel, J, Reimer, A, Hoffmann, J, Schauer, F, Zimmer, A, Fischer, J
Published in Acta dermato-venereologica (01.01.2018)
Published in Acta dermato-venereologica (01.01.2018)
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Journal Article
Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study
Has, Cristina, Schempp, Christoph M., Kiritsi, Dimitra, Schwieger-Briel, Agnes, Schumann, Hauke
Published in Dermatology Research and Practice (01.01.2017)
Published in Dermatology Research and Practice (01.01.2017)
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