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Schock im Kindesalter = Shock in infants and children

Löllgen, R. ; Szabo, L.

In: Medizinische Klinik - Intensivmedizin und Notfallmedizin, 2015, vol. 110, no. 5, p. 338-345

Treatment of keratinocytes with 4-phenylbutyrate in epidermolysis bullosa: Lessons for therapies in keratin disorders

Spörrer, Marina ; Prochnicki, Ania ; C.Tölle, Regine ; Nyström, Alexander ; Esser, Philipp R. ; Homberg, Melanie ; Athanasiou, Ioannis ; Zingkou, Eleni ; Schillinga, Achim ; Gerum, Richard ; Thievessen, Ingo ; Winter, Lilli ; Bruckner-Tuderman, Leena ; Fabry, Ben ; Magin, Thomas M. ; Dengjel, Jörn ; Schröder, Rolf ; Kiritsi, Dimitra

In: EBioMedicine, 2019, vol. 44, p. 502–515

Missense mutations in keratin 5 and 14 genes cause the severe skin fragility disorder epidermolysis bullosa simplex (EBS) by collapsing of the keratin cytoskeleton into cytoplasmic protein aggregates. Despite intense efforts, no molecular therapies are available, mostly due to the complex phenotype of EBS, comprising cell fragility, diminished adhesion, skin inflammation and itch.Methods: We...

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Basel-Vanagaite, Lina ; Yilmaz, Rüstem ; Tang, Sha ; Reuter, Miriam ; Rahner, Nils ; Grange, Dorothy ; Mortenson, Megan ; Koty, Patrick ; Feenstra, Heather ; Farwell Gonzalez, Kelly ; Sticht, Heinrich ; Boddaert, Nathalie ; Désir, Julie ; Anyane-Yeboa, Kwame ; Zweier, Christiane ; Reis, André ; Kubisch, Christian ; Jewett, Tamison ; Zeng, Wenqi ; Borck, Guntram

In: Human Genetics, 2014, vol. 133, no. 7, p. 939-949

A human gonadal cell model from induced pluripotent stem cells

Gutiérrez, Daniel Rodríguez ; Eid, Wassim ; Biason-Lauber, Anna

In: Frontiers in Genetics, 2018, vol. 9, p. -

Sertoli cells are main players in the male gonads development and their study may shed light on 46,XY disorders of sex development (DSD). Mature primary Sertoli cells are incapable of proliferating in prolonged in vitro cultures and the available Sertoli cell models have several limitations since they derive from mouse or human cancer tissues. We differentiated human fibroblasts (HFs)-derived...

Epilepsie im Kindesalter: Wann kann die antiepileptische Therapie abgesetzt werden? : Eine Meinungsäußerung des Königsteiner Arbeitskreises = Childhood epilepsy: When to discontinue antiepileptic therapy. A comment by the Königsteiner Arbeitskreis

Schmitt, Bernhard ; Albani, Michael ; Bast, Thomas ; Brandl, Ulrich ; Korinthenberg, Rudolf ; Kurlemann, Gerhard ; Neubauer, Bernd ; Stephani, Ulrich ; Wolff, Markus

In: Zeitschrift für Epileptologie, 2007, vol. 20, no. 3, p. 113-119

Bile duct ligation in the rat causes upregulation of ZO-2 and decreased colocalization of claudins with ZO-1 and occludin

Maly, I. ; Landmann, Lukas

In: Histochemistry and Cell Biology, 2008, vol. 129, no. 3, p. 289-299

Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations

Meyer, Jobst ; Südbeck, Peter ; Held, Marika ; Wagner, Thomas ; Schmitz, M. Lienhard ; Dagna Bricarelli, Franca ; Eggermont, Ephrem ; Friedrich, Ursula ; Haas, Oskar A. ; Kobelt, Albrecht ; Leroy, Jules G. ; Van Maldergem, Lionel ; Michel, Erik ; Mitulla, Beate ; Pfeiffer, Rudolf A. ; Schinzel, Albert ; Schmidt, Heinrich ; Scherer, Gerd

In: Human Molecular Genetics, 1997, vol. 6, no. 1, p. 91-98

Model-based boosting in high dimensions

Hothorn, Torsten ; Bühlmann, Peter

In: Bioinformatics, 2006, vol. 22, no. 22, p. 2828-2829

Histopathological patterns of nephrocalcinosis: a phosphate type can be distinguished from a calcium type

Wiech, Thorsten ; Hopfer, Helmut ; Gaspert, Ariana ; Banyai-Falger, Susanne ; Hausberg, Martin ; Schröder, Josef ; Werner, Martin ; Mihatsch, Michael J.

In: Nephrology Dialysis Transplantation, 2012, vol. 27, no. 3, p. 1122-1131

Effect of hMSH6 cDNA expression on the phenotype of mismatch repair-deficient colon cancer cell line HCT15

Lettieri, Teresa ; Marra, Giancarlo ; Aquilina, Gabriele ; Bignami, Margherita ; Crompton, Nigel E.A. ; Palombo, Fabio ; Jiricny, Josef

In: Carcinogenesis, 1999, vol. 20, no. 3, p. 373-382