Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Denise Rockstroh"'
Autor:
Jürgen Klammt, David Neumann, Evelien F. Gevers, Shayne F. Andrew, I. David Schwartz, Denise Rockstroh, Roberto Colombo, Marco A. Sanchez, Doris Vokurkova, Julia Kowalczyk, Louise A. Metherell, Ron G. Rosenfeld, Roland Pfäffle, Mehul T. Dattani, Andrew Dauber, Vivian Hwa
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Severe growth hormone insensitivity syndrome (GHIS) with immunodeficiency is caused by autosomal recessive mutations in STAT5B. Here the authors report heterozygous STAT5B mutations with dominant-negative effects, causing mild GHIS without immune def
Externí odkaz:
https://doaj.org/article/2f6935ea40d3432bb5ef0a1b2cc1c995
Autor:
Denise Rockstroh, Kathrin Landgraf, Isabel Viola Wagner, Julia Gesing, Roy Tauscher, Nicole Lakowa, Wieland Kiess, Ulf Bühligen, Magdalena Wojan, Holger Till, Matthias Blüher, Antje Körner
Publikováno v:
PLoS ONE, Vol 10, Iss 2, p e0117841 (2015)
Recent studies suggested the persistence of brown adipocytes in adult humans, as opposed to being exclusively present in infancy. In this study, we investigated the presence of brown-like adipocytes in adipose tissue (AT) samples of children and adol
Externí odkaz:
https://doaj.org/article/c64f85e78b9648d58bdd596c8d503460
Autor:
Christoph Beger, Susanne Bechtold-Dalla Pozza, Holger Bogatsch, Susann Weihrauch-Blüher, Denise Rockstroh, Ruth Gausche, Angelika Mohn, Zoran Gucev, Jürgen Klammt, Eric Gopel, Marina Schlicke, Eva-Maria Harmel, Marie-Hélène Gannagé-Yared, Julia Volkmann, Heike Pfäffle, Roland Pfäffle
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:e1705-e1717
ContextIGF1 receptor mutations (IGF1RM) are rare; however, patients exhibit pronounced growth retardation without catch-up. Although several case reports exist, a comprehensive statistical analysis investigating growth profile and benefit of recombin
Autor:
Thierry Brue, Jacob O. Kitzman, Frédérique Albarel, Cathy Smith, Julian Martinez Mayer, Hironori Bando, Peter Gergics, Mariam Maksutova, Debora Braslavsky, Julia Hoppmann, Sebastián Alexis Vishnopolska, Rami Abou Jamra, Qianyi Ma, Ignacio Bergadá, Berenice B. Mendonca, Frederic Castinetti, Sally A. Camper, Qing Fang, Marilena Nakaguma, Alexander A. L. Jorge, María Inés Pérez Millán, Ivo J.P. Arnhold, Michael H. Guo, Ana Keselman, Anne Barlier, Luciani R. Carvalho, A. Bilge Ozel, Roland Pfaeffle, Sajini Jayakody, Denise Rockstroh-Lippold, Andrew Dauber, Jun Li, Alexandru Saveanu, Marcelo A. Martí
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet
International audience; Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3a2583e4d44ed020745730261e348e
https://hal-amu.archives-ouvertes.fr/hal-03293410/document
https://hal-amu.archives-ouvertes.fr/hal-03293410/document
Autor:
Jacob O. Kitzman, Frederic Castinetti, Andrew Dauber, Julia Hoppmann, Ana Keselman, I J P Arnhold, Luciani R. Carvalho, Alexandru Saveanu, Denise Rockstroh-Lippold, Rami Abou Jamra, Jun Li, Alexander A. L. Jorge, Anne Barlier, Qing Fang, Sebastián Alexis Vishnopolska, Cathy Smith, Debora Braslavsky, Ignacio Bergadá, A. Bilge Ozel, Hironori Bando, Thierry Brue, Sally A. Camper, Frédérique Albarel, Peter Gergics, Julian Martinez Mayer, Marilena Nakaguma, María Inés Pérez Millán, Qianyi Ma, Roland Pfaeffle, Marcelo A. Martí, Berenice B. Mendonca, Mariam Maksutova, Michael H. Guo
Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::902e1f4c3904140e4d8b2e8f7b772631
https://doi.org/10.1101/2021.02.04.21249469
https://doi.org/10.1101/2021.02.04.21249469
Autor:
Andrew Dauber, Denise Rockstroh, Marco A. Sanchez, Vivian Hwa, I. David Schwartz, Roland Pfäffle, Doris Vokurková, David Neumann, Evelien F. Gevers, Louise A. Metherell, Mehul T Dattani, Jürgen Klammt, Ron G. Rosenfeld, Julia Kowalczyk, Shayne Andrew, Roberto Colombo
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Nature Communications
Nature Communications
Growth hormone (GH) insensitivity syndrome (GHIS) is a rare clinical condition in which production of insulin-like growth factor 1 is blunted and, consequently, postnatal growth impaired. Autosomal-recessive mutations in signal transducer and activat
Autor:
Juergen Kratzsch, Julian T. Schwartze, Antje Körner, Denise Rockstroh, Ulrike Spielau, Dennis Löffler, Kathrin Landgraf, Wieland Kiess
Publikováno v:
International Journal of Obesity. 41:955-963
The recently identified adipocytokine C1QTNF5 (encodes for CTRP5) has been demonstrated to inhibit pro-metabolic insulin signaling in adipocytes. We hypothesized that adipocyte C1QTNF5 expression in subcutaneous (sc) adipose tissue (AT) would correla
Autor:
Wieland Kiess, Denise Rockstroh, Diana Le Duc, Johannes R. Lemke, Heike Pfäffle, Franziska Rößler, Franziska Schlensog-Schuster, Roland Pfäffle, Rami Abou Jamra, John T. Heiker, Jürgen Kratzsch
Publikováno v:
European journal of endocrinology. 180(1)
Objective The IGF/IGF1R axis is involved in the regulation of human growth. Both IGF1 and IGF2 can bind to the IGF1R in order to promote growth via the downstream PI3K/AKT pathway. Pathogenic mutations in IGF1 and IGF1R determine intrauterine growth
Autor:
Marina Schlicke, Nazli Gonc, Wilma Oostdijk, Heike Pfäffle, Louise ten Have, Mithat Bahceci, Nurgun Kandemir, Roland Pfäffle, Denise Rockstroh-Lippold, Alpaslan Kemal Tuzcu, Jürgen Klammt, Petra Dusatkova, Georg Mansmann, Eleonore Bertko, Barbora Obermannova
Publikováno v:
Journal of Human Genetics
Journal of Human Genetics, 62(8), 755-762
Journal of Human Genetics, 62(8), 755-762
Pituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this study was to identify copy numb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dc0d5c6e672657c5e4f962bd87507f1
https://hdl.handle.net/1887/95180
https://hdl.handle.net/1887/95180
Autor:
Kathrin Landgraf, Denise Rockstroh, Wieland Kiess, Antje Körner, Dennis Löffler, Julian T. Schwartze, H Dunzendorfer
Publikováno v:
International journal of obesity (2005). 41(1)
Meteorin-like (METRNL) is a recently described circulating protein shown to be highly expressed in white adipose tissue and to beneficially affect energy metabolism in mice.We systematically evaluated the role of METRNL for human adipogenesis and its