Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Cesar A. Prada-Medina"'
Autor:
Thomas Monfeuga, Jenny Norlin, Anne Bugge, Elisabeth D. Gaalsgaard, Cesar A. Prada-Medina, Markus Latta, Sanne S. Veidal, Pia S. Petersen, Michael Feigh, Dorte Holst
Publikováno v:
Molecular Metabolism, Vol 79, Iss , Pp 101850- (2024)
Objective: The metabolic benefits of GLP-1 receptor (GLP-1R) agonists on glycemic and weight control are well established as therapy for type 2 diabetes and obesity. Glucagon's ability to increase energy expenditure is well described, and the combina
Externí odkaz:
https://doaj.org/article/b046605cf4e74e3997c9fe7753652fe9
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
Autor:
Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Heterotopic ossification is a disorder caused by abnormal mineralization of soft tissues in which signaling pathways such as BMP, TGFβ and WNT are known key players in driving ectopic bone formation. Identifying novel genes and pathways rel
Externí odkaz:
https://doaj.org/article/4848e7ed684e495f8ace27fcba8b8f77
Autor:
Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/81fd3b11d7934ebcb13c04401024e74d
Autor:
Cesar A. Prada-Medina, Kiyoshi F. Fukutani, Nathella Pavan Kumar, Leonardo Gil-Santana, Subash Babu, Flávio Lichtenstein, Kim West, Shanmugam Sivakumar, Pradeep A. Menon, Vijay Viswanathan, Bruno B. Andrade, Helder I. Nakaya, Hardy Kornfeld
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-16 (2017)
Abstract Comorbid diabetes mellitus (DM) increases tuberculosis (TB) risk and adverse outcomes but the pathological interactions between DM and TB remain incompletely understood. We performed an integrative analysis of whole blood gene expression and
Externí odkaz:
https://doaj.org/article/c276cbf05b4a4ab5958679ad6d679e41
Autor:
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publikováno v:
Nature Communications. 14
Autor:
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publikováno v:
Nature Communications
Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at the LBX1/FGF8 locus. Yet, the disease patho-mechanism remains unsolved. Here we investigate the functional consequences of SHFM3-asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51aaf28f34eb5b4e91de32e470e33983
https://hdl.handle.net/21.11116/0000-000D-1D35-821.11116/0000-000A-29C7-8
https://hdl.handle.net/21.11116/0000-000D-1D35-821.11116/0000-000A-29C7-8
Autor:
Semra Smajić, Cesar A. Prada-Medina, Zied Landoulsi, Jenny Ghelfi, Sylvie Delcambre, Carola Dietrich, Javier Jarazo, Jana Henck, Saranya Balachandran, Sinthuja Pachchek, Christopher M. Morris, Paul Antony, Bernd Timmermann, Sascha Sauer, Sandro L. Pereira, Jens C. Schwamborn, Patrick May, Anne Grünewald, Malte Spielmann
Publikováno v:
Brain
Idiopathic Parkinson’s disease is characterized by a progressive loss of dopaminergic neurons, but the exact disease aetiology remains largely unknown. To date, Parkinson’s disease research has mainly focused on nigral dopaminergic neurons, altho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5537b72e848ef074330eb33e0d01f4
https://hdl.handle.net/21.11116/0000-000A-F076-221.11116/0000-0009-BFDC-9
https://hdl.handle.net/21.11116/0000-000A-F076-221.11116/0000-0009-BFDC-9
Autor:
Felix Boschann, Ozgur Cogulu, Davut Pehlivan, Saranya Balachandran, Pedro Vallecillo-Garcia, Christopher M. Grochowski, Nils R. Hansmeier, Zeynep H. Coban Akdemir, Cesar A. Prada-Medina, Ayca Aykut, Björn Fischer-Zirnsak, Simon Badura, Burak Durmaz, Ferda Ozkinay, René Hägerling, Jennifer E. Posey, Sigmar Stricker, Gabriele Gillessen-Kaesbach, Malte Spielmann, Denise Horn, Knut Brockmann, James R. Lupski, Uwe Kornak, Julia Schmidt
Publikováno v:
GENETICS IN MEDICINE
Purpose: We aimed to identify the underlying genetic cause for a novel form of distal arthrogryposis. Methods: Rare variant family-based genomics, exome sequencing, and disease-specific panel sequencing were used to detect ADAMTS15 variants in affect
Autor:
Kobi Wasner, Semra Smajic, Jenny Ghelfi, Sylvie Delcambre, Cesar A. Prada‐Medina, Evelyn Knappe, Giuseppe Arena, Patrycja Mulica, Gideon Agyeah, Aleksandar Rakovic, Ibrahim Boussaad, Katja Badanjak, Jochen Ohnmacht, Jean‐Jacques Gérardy, Masashi Takanashi, Joanne Trinh, Michel Mittelbronn, Nobutaka Hattori, Christine Klein, Paul Antony, Philip Seibler, Malte Spielmann, Sandro L. Pereira, Anne Grünewald
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 37(7)
BACKGROUND: Mutations in the E3 ubiquitin ligase parkin cause autosomal recessive Parkinson's disease (PD). Together with PTEN-induced kinase 1 (PINK1), parkin regulates the clearance of dysfunctional mitochondria. New mitochondria are generated thro
Autor:
Giulia Cova, Juliane Glaser, Robert Schöpflin, Salaheddine Ali, Cesar Augusto Prada-Medina, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at the LBX1/FGF8 locus. Yet, the disease patho-mechanism remains unsolved. Here we investigated the functional consequences of SHFM3-ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d75a7cb6dc244a85180959b27d40ac6
https://doi.org/10.1101/2022.02.09.479724
https://doi.org/10.1101/2022.02.09.479724