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Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13717-w
By:
- Zorn, Malte;
- Kühnisch, Jirko;
- Bachmann, Sebastian;
- Seifert, Wenke
Publication type:
Article
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Published in:
Electrophoresis, 2007, v. 28, n. 23, p. 4295, doi. 10.1002/elps.200700118
By:
- Brinckmann, Anja;
- Mischung, Claudia;
- Bässmann, Ingelore;
- Kühnisch, Jirko;
- Schuelke, Markus;
- Tinschert, Sigrid;
- Nürnberg, Peter
Publication type:
Article
Insights into Mesenchymal Stem Cell Aging: Involvement of Antioxidant Defense and Actin Cytoskeleton.
Published in:
Stem Cells, 2009, v. 27, n. 6, p. 1288, doi. 10.1002/stem.49
By:
- Kasper, Grit;
- Lei Mao;
- Geissler, Sven;
- Draycheva, Albena;
- Trippens, Jessica;
- Kühnisch, Jirko;
- Tschirschmann, Miriam;
- Kaspar, Katharina;
- Perka, Carsten;
- Duda, Georg N.;
- Klose, Joachim
Publication type:
Article
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Published in:
Nature Genetics, 2008, v. 40, n. 12, p. 1410, doi. 10.1038/ng.252
By:
- Hennies, Hans Christian;
- Kornak, Uwe;
- Haikuo Zhang;
- Egerer, Johannes;
- Xin Zhang;
- Seifert, Wenke;
- Kühnisch, Jirko;
- Budde, Birgit;
- Nätebus, Marc;
- Brancati, Francesco;
- Wilcox, William R.;
- Müller, Dietmar;
- Kaplan, Paige B.;
- Rajab, Anna;
- Zampino, Giuseppe;
- Fodale, Valentina;
- Dallapiccola, Bruno;
- Newman, William;
- Metcalfe, Kay;
- Clayton-Smith, Jill
Publication type:
Article
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
Published in:
2011
By:
- Morava, Eva;
- Kühnisch, Jirko;
- Drijvers, Jefte M;
- Robben, Joris H;
- Cremers, Cor;
- van Setten, Petra;
- Branten, Amanda;
- Stumpp, Sabine;
- de Jong, Alphons;
- Voesenek, Krysta;
- Vermeer, Sascha;
- Heister, Angelien;
- Claahsen-van der Grinten, Hedi L;
- O'Neill, Charles W;
- Willemsen, Michèl A;
- Lefeber, Dirk;
- Deen, Peter M T;
- Kornak, Uwe;
- Kremer, Hannie;
- Wevers, Ron A
Publication type:
journal article
Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient.
Published in:
PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119030
By:
- Kobus, Karolina;
- Hartl, Daniela;
- Ott, Claus Eric;
- Osswald, Monika;
- Huebner, Angela;
- von der Hagen, Maja;
- Emmerich, Denise;
- Kühnisch, Jirko;
- Morreau, Hans;
- Hes, Frederik J.;
- Mautner, Victor F.;
- Harder, Anja;
- Tinschert, Sigrid;
- Mundlos, Stefan;
- Kolanczyk, Mateusz
Publication type:
Article
Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1.
Published in:
PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086115
By:
- Kühnisch, Jirko;
- Seto, Jong;
- Lange, Claudia;
- Schrof, Susanne;
- Stumpp, Sabine;
- Kobus, Karolina;
- Grohmann, Julia;
- Kossler, Nadine;
- Varga, Peter;
- Osswald, Monika;
- Emmerich, Denise;
- Tinschert, Sigrid;
- Thielemann, Falk;
- Duda, Georg;
- Seifert, Wenke;
- Khassawna, Thaqif el;
- Stevenson, David A.;
- Elefteriou, Florent;
- Kornak, Uwe;
- Raum, Kay
Publication type:
Article
Functional Comparison of Chronological and In Vitro Aging: Differential Role of the Cytoskeleton and Mitochondria in Mesenchymal Stromal Cells.
Published in:
PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052700
By:
- Geißler, Sven;
- Textor, Martin;
- Kühnisch, Jirko;
- Könnig, Delia;
- Klein, Oliver;
- Ode, Andrea;
- Pfitzner, Tilman;
- Adjaye, James;
- Kasper, Grit;
- Duda, Georg N.
Publication type:
Article
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 6, p. 870, doi. 10.1038/ejhg.2014.210
By:
- Emmerich, Denise;
- Zemojtel, Tomasz;
- Hecht, Jochen;
- Krawitz, Peter;
- Spielmann, Malte;
- Kühnisch, Jirko;
- Kobus, Karolina;
- Osswald, Monika;
- Heinrich, Verena;
- Berlien, Peter;
- Müller, Ute;
- Mautner, Victor-F;
- Wimmer, Katharina;
- Robinson, Peter N;
- Vingron, Martin;
- Tinschert, Sigrid;
- Mundlos, Stefan;
- Kolanczyk, Mateusz
Publication type:
Article
Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Published in:
Cardiovascular Research, 2023, v. 119, n. 18, p. 2902, doi. 10.1093/cvr/cvad154
By:
- Kühnisch, Jirko;
- Theisen, Simon;
- Dartsch, Josephine;
- Fritsche-Guenther, Raphaela;
- Kirchner, Marieluise;
- Obermayer, Benedikt;
- Bauer, Anna;
- Kahlert, Anne-Karin;
- Rothe, Michael;
- Beule, Dieter;
- Heuser, Arnd;
- Mertins, Philipp;
- Kirwan, Jennifer A;
- Berndt, Nikolaus;
- MacRae, Calum A;
- Hubner, Norbert;
- Klaassen, Sabine
Publication type:
Article
Cell biological characterization of the Cohen syndrome‐associated protein COH1 (894.1).
Published in:
FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.894.1
By:
- Lommatzsch, Stefanie;
- Seifert, Wenke;
- Bachmann, Sebastian;
- Kühnisch, Jirko;
- Maritzen, Tanja;
- Horn, Denise;
- Haucke, Volker
Publication type:
Article
Mouse models of cystathionine β-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Published in:
FASEB Journal, 2009, v. 23, n. 3, p. 883, doi. 10.1096/fj.08-120584
By:
- Gupta, Sapna;
- Kühnisch, Jirko;
- Mustafa, Aladdin;
- Lhotak, Sarka;
- Schlachterman, Alexander;
- Slifker, Michael J.;
- Klein-Szanto, Andres;
- High, Katherine A.;
- Austin, Richard C.;
- Kruger, Warren D.
Publication type:
Article
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Published in:
Clinical Genetics, 2019, v. 96, n. 6, p. 549, doi. 10.1111/cge.13645
By:
- Kühnisch, Jirko;
- Herbst, Christopher;
- Al‐Wakeel‐Marquard, Nadya;
- Dartsch, Josephine;
- Holtgrewe, Manuel;
- Baban, Anwar;
- Mearini, Giulia;
- Hardt, Juliane;
- Kolokotronis, Konstantinos;
- Gerull, Brenda;
- Carrier, Lucie;
- Beule, Dieter;
- Schubert, Stephan;
- Messroghli, Daniel;
- Degener, Franziska;
- Berger, Felix;
- Klaassen, Sabine
Publication type:
Article
Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.
Published in:
2020
By:
- Poller, Wolfgang;
- Haas, Jan;
- Klingel, Karin;
- Kühnisch, Jirko;
- Gast, Martina;
- Kaya, Ziya;
- Escher, Felicitas;
- Kayvanpour, Elham;
- Degener, Franziska;
- Opgen-Rhein, Bernd;
- Berger, Felix;
- Mochmann, Hans-Christian;
- Skurk, Carsten;
- Heidecker, Bettina;
- Schultheiss, Heinz-Peter;
- Monserrat, Lorenzo;
- Meder, Benjamin;
- Landmesser, Ulf;
- Klaassen, Sabine
Publication type:
journal article
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
Published in:
2019
By:
- Al-Wakeel-Marquard, Nadya;
- Degener, Franziska;
- Herbst, Christopher;
- Kühnisch, Jirko;
- Dartsch, Josephine;
- Schmitt, Boris;
- Kuehne, Titus;
- Messroghli, Daniel;
- Berger, Felix;
- Klaassen, Sabine
Publication type:
journal article
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 17, p. 3836, doi. 10.1093/hmg/ddw230
By:
- Seifert, Wenke;
- Posor, York;
- Schu, Peter;
- Stenbeck, Gudrun;
- Mundlos, Stefan;
- Klaassen, Sabine;
- Nürnberg, Peter;
- Haucke, Volker;
- Kornak, Uwe;
- Kühnisch, Jirko
Publication type:
Article
Neurofibromin (Nf1) is required for skeletal muscle development.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 14, p. 2697, doi. 10.1093/hmg/ddr149
By:
- Kossler, Nadine;
- Stricker, Sigmar;
- Rödelsperger, Christian;
- Robinson, Peter N.;
- Kim, Johnny;
- Dietrich, Carola;
- Osswald, Monika;
- Kühnisch, Jirko;
- Stevenson, David A.;
- Braun, Thomas;
- Mundlos, Stefan;
- Kolanczyk, Mateusz
Publication type:
Article
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1101, doi. 10.1002/humu.23757
By:
- Kolokotronis, Konstantinos;
- Kühnisch, Jirko;
- Klopocki, Eva;
- Dartsch, Josephine;
- Rost, Simone;
- Huculak, Cathleen;
- Mearini, Giulia;
- Störk, Stefan;
- Carrier, Lucie;
- Klaassen, Sabine;
- Gerull, Brenda
Publication type:
Article
Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing.
Published in:
Human Mutation, 2012, v. 33, n. 4, p. 660, doi. 10.1002/humu.22042
By:
- Seifert, Wenke;
- Kühnisch, Jirko;
- Tüysüz, Beyhan;
- Specker, Christof;
- Brouwers, Ad;
- Horn, Denise
Publication type:
Article
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Published in:
Human Mutation, 2009, v. 30, n. 2, p. E404, doi. 10.1002/humu.20886
By:
- Seifert, Wenke;
- Holder-Espinasse, Muriel;
- Kühnisch, Jirko;
- Kahrizi, Kimia;
- Tzschach, Andreas;
- Garshasbi, Masoud;
- Najmabadi, Hossein;
- Walter Kuss, Andreas;
- Kress, Wolfram;
- Laureys, Geneviève;
- Loeys, Bart;
- Brilstra, Eva;
- Mancini, Grazia M.S.;
- Dollfus, Hélène;
- Dahan, Karin;
- Apse, Kira;
- Christian Hennies, Hans;
- Horn, Denise
Publication type:
Article
Multiple roles for neurofibromin in skeletal development and growth.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 8, p. 874, doi. 10.1093/hmg/ddm032
By:
- Kolanczyk, Mateusz;
- Kossler, Nadine;
- Kühnisch, Jirko;
- Lavitas, Liron;
- Stricker, Sigmar;
- Wilkening, Ulrich;
- Manjubala, Inderchand;
- Fratzl, Peter;
- Spörle, Ralf;
- Herrmann, Bernhard G.;
- Parada, Luis F.;
- Kornak, Uwe;
- Mundlos, Stefan
Publication type:
Article
Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.
Published in:
PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0198510
By:
- Geissler, Sven;
- Textor, Martin;
- Stumpp, Sabine;
- Seitz, Sebastian;
- Lekaj, Anja;
- Brunk, Sabrina;
- Klaassen, Sabine;
- Schinke, Thorsten;
- Klein, Christoph;
- Mundlos, Stefan;
- Kornak, Uwe;
- Kühnisch, Jirko
Publication type:
Article
MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
Published in:
BMC Medicine, 2011, v. 9, n. 1, p. 82, doi. 10.1186/1741-7015-9-82
By:
- Kolanczyk, Mateusz;
- Mautner, Victor;
- Kossler, Nadine;
- Nguyen, Rosa;
- Kühnisch, Jirko;
- Zemojtel, Tomasz;
- Jamsheer, Aleksander;
- Wegener, Eike;
- Thurisch, Boris;
- Tinschert, Sigrid;
- Holtkamp, Nikola;
- Park, Su-Jin;
- Birch, Patricia;
- Kendler, David;
- Harder, Anja;
- Mundlos, Stefan;
- Kluwe, Lan
Publication type:
Article
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin.
Published in:
2008
By:
- Kolanczyk M;
- Kühnisch J;
- Kossler N;
- Osswald M;
- Stumpp S;
- Thurisch B;
- Kornak U;
- Mundlos S;
- Kolanczyk, Mateusz;
- Kühnisch, Jirko;
- Kossler, Nadine;
- Osswald, Monika;
- Stumpp, Sabine;
- Thurisch, Boris;
- Kornak, Uwe;
- Mundlos, Stefan
Publication type:
journal article
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin.
Published in:
BMC Medicine, 2008, v. 6, p. 1, doi. 10.1186/1741-7015-6-21
By:
- Kolanczyk, Mateusz;
- Kühnisch, Jirko;
- Kossler, Nadine;
- Osswald, Monika;
- Stumpp, Sabine;
- Thurisch, Boris;
- Kornak, Uwe;
- Mundlos, Stefan
Publication type:
Article
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis—Further Impact of Heterozygous Immune Disorder Gene Variants?
Published in:
Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 7, p. 216, doi. 10.3390/jcdd9070216
By:
- Seidel, Franziska;
- Laser, Kai Thorsten;
- Klingel, Karin;
- Dartsch, Josephine;
- Theisen, Simon;
- Pickardt, Thomas;
- Holtgrewe, Manuel;
- Gärtner, Anna;
- Berger, Felix;
- Beule, Dieter;
- Milting, Hendrik;
- Schubert, Stephan;
- Klaassen, Sabine;
- Kühnisch, Jirko
Publication type:
Article
Left Ventricular Noncompaction in Children: The Role of Genetics, Morphology, and Function for Outcome.
Published in:
Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 7, p. 206, doi. 10.3390/jcdd9070206
By:
- Klaassen, Sabine;
- Kühnisch, Jirko;
- Schultze-Berndt, Alina;
- Seidel, Franziska
Publication type:
Article

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