Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Katrin, Hinderhofer"'
Autor:
Alexandra Tibelius, Christina Evers, Sabrina Oeser, Isabelle Rinke, Anna Jauch, Katrin Hinderhofer
Publikováno v:
Genes, Vol 14, Iss 12, p 2218 (2023)
Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene (GCDH) that lead to deficiency of GCDH protein. Without
Externí odkaz:
https://doaj.org/article/0f98d8da7622496084cc99137b863b42
Autor:
Vivienne Theobald, Ekkehard Grünig, Nicola Benjamin, Hans‐Jürgen Seyfarth, Michael Halank, Marc A. Schneider, Sarah Richtmann, Daniel Kazdal, Katrin Hinderhofer, Panagiota Xanthouli, Benjamin Egenlauf, Satenik Harutyunova, Marius M. Hoeper, Danny Jonigk, Richard Sparla, Martina U. Muckenthaler, Christina A. Eichstaedt
Publikováno v:
Pulmonary Circulation, Vol 13, Iss 2, Pp n/a-n/a (2023)
Abstract Iron deficiency is common in idiopathic and heritable pulmonary arterial hypertension patients (I/HPAH). A previous report suggested a dysregulation of the iron hormone hepcidin, which is controlled by BMP/SMAD signaling involving the bone m
Externí odkaz:
https://doaj.org/article/06906adb9d074ed8bf1540d8e0c8f963
Autor:
Julia Rehnitz, Birgitta Messmer, Ulrike Bender, Xuan Phuoc Nguyen, Ariane Germeyer, Katrin Hinderhofer, Thomas Strowitzki, Edison Capp
Publikováno v:
Reproductive Biology and Endocrinology, Vol 20, Iss 1, Pp 1-7 (2022)
Abstract Background The protein kinase B (AKT)/mammalian target of rapamycin (mTOR) signaling pathway regulates early follicular activation and follicular pool maintenance in female germline cells. Fragile X mental retardation 1 (FMR1) regulates foll
Externí odkaz:
https://doaj.org/article/46c1c14aa25d42049e36402c11b78245
Autor:
Christina A. Eichstaedt, Zoe Saßmannshausen, Memoona Shaukat, Ding Cao, Panagiota Xanthouli, Henning Gall, Natascha Sommer, Hossein-Ardeschir Ghofrani, Hans-Jürgen Seyfarth, Marianne Lerche, Michael Halank, Janina Kleymann, Nicola Benjamin, Satenik Harutyunova, Benjamin Egenlauf, Katrin Milger, Stephan Rosenkranz, Ralf Ewert, Hans Klose, Marius M. Hoeper, Karen M. Olsson, Mareike Lankeit, Tobias J. Lange, Katrin Hinderhofer, Ekkehard Grünig
Publikováno v:
Respiratory Research, Vol 23, Iss 1, Pp 1-12 (2022)
Abstract Background A genetic predisposition can lead to the rare disease pulmonary arterial hypertension (PAH). Most mutations have been identified in the gene BMPR2 in heritable PAH. However, as of today 15 further PAH genes have been described. Th
Externí odkaz:
https://doaj.org/article/1de528004b62464999a9e805a210de5e
Autor:
Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C. Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A. van Duyvenvoorde, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk a
Externí odkaz:
https://doaj.org/article/085206a3981340ad9e5aca2df8e28d69
Autor:
Vivienne Theobald, Nicola Benjamin, Hans-Jürgen Seyfarth, Michael Halank, Marc A. Schneider, Sarah Richtmann, Katrin Hinderhofer, Panagiota Xanthouli, Benjamin Egenlauf, Rebekka Seeger, Marius M. Hoeper, Danny Jonigk, Ekkehard Grünig, Christina A. Eichstaedt
Publikováno v:
Genes, Vol 13, Iss 5, p 759 (2022)
Pulmonary arterial hypertension (PAH) can be caused by pathogenic variants in the gene bone morphogenetic protein receptor 2 (BMPR2). While BMPR2 protein expression levels are known to be reduced in the lung tissue of heritable PAH (HPAH) patients, a
Externí odkaz:
https://doaj.org/article/df97d12899ec4866be1c85653d1d97ec
Autor:
Xuan Phuoc Nguyen, Adriana Vilkaite, Birgitta Messmer, Jens E. Dietrich, Katrin Hinderhofer, Knut Schäkel, Thomas Strowitzki, Julia Rehnitz
Publikováno v:
Genes, Vol 13, Iss 3, p 451 (2022)
Fragile X-associated primary ovarian insufficiency (FXPOI) is characterized by oligo/amenorrhea and hypergonadotropic hypogonadism and is caused by the expansion of the CGG repeat in the 5′UTR of Fragile X Mental Retardation 1 (FMR1). Approximately
Externí odkaz:
https://doaj.org/article/908894f0936b4647a616f2760599aeb7
Autor:
Julia Rehnitz, Diego D. Alcoba, Ilma S. Brum, Jens E. Dietrich, Berthe Youness, Katrin Hinderhofer, Birgitta Messmer, Alexander Freis, Thomas Strowitzki, Ariane Germeyer
Publikováno v:
Reproductive Biology and Endocrinology, Vol 16, Iss 1, Pp 1-9 (2018)
Abstract Background Fragile-X-Mental-Retardation-1- (FMR1)-gene is supposed to be a key gene for ovarian reserve and folliculogenesis. It contains in its 5’-UTR a triplet-base-repeat (CGG), that varies between 26 and 34 in general population. CGG-r
Externí odkaz:
https://doaj.org/article/65496a74ff924122af00b42f0ff713fb
Autor:
Marianne Lerche, Christina A. Eichstaedt, Katrin Hinderhofer, Ekkehard Grünig, Kristin Tausche, Tjalf Ziemssen, Michael Halank, Hubert Wirtz, Hans-Jürgen Seyfarth
Publikováno v:
Pulmonary Circulation, Vol 9 (2019)
Based on a small number of cases, interferon beta (IFN-β) has been added to the list of drugs that might induce pulmonary arterial hypertension (PAH) in the current European guidelines for the diagnosis and treatment of pulmonary hypertension. Here,
Externí odkaz:
https://doaj.org/article/2b68df3638b44ad9936a09541f13016d
Autor:
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner
Most individuals with rare diseases initially consult their primary care physician. For a subset of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases often require both expert clinical knowledge and comprehensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824
https://doi.org/10.1101/2023.04.19.23288824