19 Einträge gefunden

1. Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes

   1. Nauth, Theresa
   2. Bazgir, Farhad
   3. Voß, Hannah
   4. Brandenstein, Laura I
   5. Mosaddeghzadeh, Niloufar
   6. Rickassel, Verena
   7. Deden, Sophia

   2023 - Forschungsinformationssystem des UKE - frei zugänglich
2. A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome

   1. Lindsey-Temple, Suzanna
   2. Edwards, Matt
   3. Rickassel, Verena
   4. Nauth, Theresa
   5. Rosenberger, Georg

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load

   1. Thievessen, Ingo
   2. Suhr, Frank
   3. Vergarajauregui, Silvia
   4. Böttcher, Ralph T
   5. Brixius, Klara
   6. Rosenberger, Georg
   7. Dewald, Oliver

   2022 - Forschungsinformationssystem des UKE
4. The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

   1. Gripp, Karen W
   2. Baker, Laura
   3. Robbins, Katherine M
   4. Stabley, Deborah L
   5. Bellus, Gary A
   6. Kolbe, Verena
   7. Nauth, Theresa

   2020 - Forschungsinformationssystem des UKE
5. 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome

   1. Kloth, Katja
   2. Renner, Sina
   3. Burmester, Gunter
   4. Steinemann, Doris
   5. Pabst, Brigitte
   6. Lorenz, Birgit
   7. Simon, Ronald

   2019 - Forschungsinformationssystem des UKE
6. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

   1. Johannsen, Jessika
   2. Kortüm, Fanny
   3. Rosenberger, Georg
   4. Bokelmann, Kristin
   5. Schirmer, Markus A
   6. Denecke, Jonas
   7. Santer, René

   2018 - Forschungsinformationssystem des UKE
7. RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1

   1. Meyer Zum Büschenfelde, Uta
   2. Brandenstein, Laura Isabel
   3. von Elsner, Leonie
   4. Flato, Kristina
   5. Holling, Tess
   6. Zenker, Martin
   7. Rosenberger, Georg

   2018 - Forschungsinformationssystem des UKE - frei zugänglich
8. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics

   1. Gripp, Karen W
   2. Kolbe, Verena
   3. Brandenstein, Laura Isabel
   4. Rosenberger, Georg

   2017 - Forschungsinformationssystem des UKE
9. The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

   1. von Kodolitsch, Yskert
   2. Rybczynski, Meike
   3. Vogler, Marina
   4. Mir, Thomas S
   5. Schüler, Helke
   6. Kutsche, Kerstin
   7. Rosenberger, Georg

   2016 - Forschungsinformationssystem des UKE - frei zugänglich
10. αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor

    1. Kortüm, Fanny
    2. Harms, Frederike Leonie
    3. Hennighausen, Natascha
    4. Rosenberger, Georg

    2015 - Forschungsinformationssystem des UKE - frei zugänglich
11. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

    1. Abdollahpour, Hengameh
    2. Alawi, Malik
    3. Kortüm, Fanny
    4. Beckstette, Michael
    5. Seemanova, Eva
    6. Komárek, Vladimír
    7. Rosenberger, Georg

    2015 - Forschungsinformationssystem des UKE
12. RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR

    1. Brand, Kristina
    2. Kentsch, Hendrik
    3. Glashoff, Christina
    4. Rosenberger, Georg

    2014 - Forschungsinformationssystem des UKE
13. Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons

    1. Meseke, Maurice
    2. Rosenberger, Georg
    3. Förster, Eckart

    2013 - Forschungsinformationssystem des UKE
14. A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

    1. Leutermann, Ruth
    2. Sheikhzadeh, Sara
    3. Brockstädt, Lars
    4. Rybczynski, Meike
    5. van Rahden, Vanessa
    6. Kutsche, Kerstin
    7. Kodolitsch, Yskert

    2013 - Forschungsinformationssystem des UKE
15. Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome

    1. Lorenz, Sybille
    2. Lissewski, Christina
    3. Simsek-Kiper, Pelin O
    4. Alanay, Yasemin
    5. Boduroglu, Koray
    6. Zenker, Martin
    7. Rosenberger, Georg

    2013 - Forschungsinformationssystem des UKE
16. A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

    1. Gripp, Karen W
    2. Bifeld, Eugenia
    3. Stabley, Deborah L
    4. Hopkins, Elizabeth
    5. Meien, Stefanie
    6. Vinette, Kathy
    7. Sol-Church, Katia

    2012 - Forschungsinformationssystem des UKE
17. Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.

    1. Ramakers, Ger J A
    2. Wolfer, David
    3. Rosenberger, Georg
    4. Kuchenbecker, Kerstin
    5. Kreienkamp, Hans-Jürgen
    6. Prange-Kiel, Janine
    7. Rune, Gabriele M.

    2012 - Forschungsinformationssystem des UKE
18. Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies.

    1. Kortüm, Fanny
    2. Chyrek, Magdalena
    3. Fuchs, Sigrid
    4. Albrecht, B
    5. Gillessen-Kaesbach, G
    6. Mütze, U
    7. Seemanova, E

    2011 - Forschungsinformationssystem des UKE
19. AlphaPIX and betaPIX and their role in focal adhesion formation

    1. Rosenberger, Georg
    2. Kutsche, Kerstin

    2006 - Forschungsinformationssystem des UKE