Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Denise Haslinger"'
Autor:
Jochen T. Frueh, Julia Campe, Daniele Yumi Sunaga-Franze, Nikita A. Verheyden, Sakhila Ghimire, Elisabeth Meedt, Denise Haslinger, Sabine Harenkamp, Daniel Staudenraus, Sascha Sauer, Andreas Kreft, Ralf Schubert, Michael Lohoff, Andreas Krueger, Halvard Bonig, Andreas G. Chiocchetti, Robert Zeiser, Ernst Holler, Evelyn Ullrich
Publikováno v:
OncoImmunology, Vol 13, Iss 1 (2024)
ABSTRACTInterferon regulatory factor 4 (IRF4) is a master transcription factor that regulates T helper cell (Th) differentiation. It interacts with the Basic leucine zipper transcription factor, ATF-like (BATF), depletion of which in CD4+ T cells abr
Externí odkaz:
https://doaj.org/article/0e061017555b4bc0b1aa91d36567a9dd
Autor:
Stephanie Binder, Haribaskar Ramachandran, Denise Haslinger, Barbara Hildebrandt, Jochen Dobner, Thomas Haarmann-Stemmann, Andreas Chiocchetti, Andrea Rossi
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103395- (2024)
Heterozygous beta-actin (ACTB) indel and nonsense mutations are linked to developmental disorders. We generated two CRISPR/Cas9 human induced pluripotent stem cell (iPSC) lines, WTSIi018-B-19 and WTSIi018-B-20, carrying heterozygous and homozygous in
Externí odkaz:
https://doaj.org/article/641301e5755e44058761de3d25563abf
Autor:
Sophie vonBrauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 497-508 (2023)
Abstract Objective The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing
Externí odkaz:
https://doaj.org/article/4fb452d9a8a04925b6c0834c25eac553
Autor:
Andreas G Chiocchetti, Afsheen Yousaf, Regina Waltes, Anka Bernhard, Anne Martinelli, Katharina Ackermann, Denise Haslinger, Björn Rotter, Nico Krezdorn, Kerstin Konrad, Gregor Kohls, Agnes Vetro, Amaia Hervas, Aranzazu Fernández-Rivas, Christine M Freitag
Publikováno v:
PLoS ONE, Vol 17, Iss 1, p e0261691 (2022)
Conduct Disorder (CD) is an impairing psychiatric disorder of childhood and adolescence characterized by aggressive and dissocial behavior. Environmental factors such as maternal smoking during pregnancy, socio-economic status, trauma, or early life
Externí odkaz:
https://doaj.org/article/3f2bee76a1a741ad909ba9c9da2010ec
Autor:
Denise Haslinger, Regina Waltes, Afsheen Yousaf, Silvia Lindlar, Ines Schneider, Chai K. Lim, Meng-Miao Tsai, Boyan K. Garvalov, Amparo Acker-Palmer, Nicolas Krezdorn, Björn Rotter, Till Acker, Gilles J. Guillemin, Simone Fulda, Christine M. Freitag, Andreas G. Chiocchetti
Publikováno v:
Molecular Autism, Vol 9, Iss 1, Pp 1-17 (2018)
Abstract Background Altered neuronal development is discussed as the underlying pathogenic mechanism of autism spectrum disorders (ASD). Copy number variations of 16p11.2 have recurrently been identified in individuals with ASD. Of the 29 genes withi
Externí odkaz:
https://doaj.org/article/ce0cb06f639d43dd818685fcf52ff225
Autor:
Verica Vasic, Mattson S. O. Jones, Denise Haslinger, Lisa S. Knaus, Michael J. Schmeisser, Gaia Novarino, Andreas G. Chiocchetti
Publikováno v:
Genes, Vol 12, Iss 11, p 1746 (2021)
Mutations affecting mTOR or RAS signaling underlie defined syndromes (the so-called mTORopathies and RASopathies) with high risk for Autism Spectrum Disorder (ASD). These syndromes show a broad variety of somatic phenotypes including cancers, skin ab
Externí odkaz:
https://doaj.org/article/a1e112a6b0604051859be71f92fc7c75
Autor:
Viola Stella Palladino, Andreas G. Chiocchetti, Lukas Frank, Denise Haslinger, Rhiannon McNeill, Franziska Radtke, Andreas Till, Simone Haupt, Oliver Brüstle, Katharina Günther, Frank Edenhofer, Per Hoffmann, Andreas Reif, Sarah Kittel-Schneider
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 12, p 4092 (2020)
The main goal of the present study was the identification of cellular phenotypes in attention-deficit-/hyperactivity disorder (ADHD) patient-derived cellular models from carriers of rare copy number variants (CNVs) in the PARK2 locus that have been p
Externí odkaz:
https://doaj.org/article/4e4b5ca267384de1b33828d13490d213
Autor:
Sophie von Brauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein
OBJECTIVE: The phenotypic and genotypic spectrum of adult patients with epilepsy and intellectual disability (ID) is less clear than in children. We investigated an adult patient cohort to further elucidate this and inform the genetic testing approac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ab6a82573bccbe0b148f2e820a5a7b
http://edoc.mdc-berlin.de/23196/2/23196suppl.zip
http://edoc.mdc-berlin.de/23196/2/23196suppl.zip
Publikováno v:
Medizinische Genetik. 32:31-37
Autism spectrum disorders (ASDs) are phenotypically as well as genetically heterogeneous developmental disorders with a strong heritability. Clinical and basic science research has described many replicated genetic risk factors. Many findings can wel
Autor:
Franziska Radtke, Viola Stella Palladino, Rhiannon V. McNeill, Andreas G. Chiocchetti, Denise Haslinger, Matthias Leyh, Danijel Gersic, Markus Frank, Lena Grünewald, Stephan Klebe, Oliver Brüstle, Katharina Günther, Frank Edenhofer, Thorsten M. Kranz, Andreas Reif, Sarah Kittel‐Schneider
Publikováno v:
ADHD-associated PARK2 copy number variants: A pilot study on gene expression and effects of supplementary deprivation in patient-derived cell lines
Recent studies show an association of Parkin RBR E3 ubiquitin protein ligase (PARK2) copy number variations (CNVs) with attention deficit hyperactivity disorder (ADHD). The aim of our pilot study to investigate gene expression associated with PARK2 C