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306 results on '"Hinderhofer, Katrin"'

1. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Author

Schmidt, Axel, Danyel, Magdalena, Grundmann, Kathrin, Brunet, Theresa, Klinkhammer, Hannah, Hsieh, Tzung-Chien, Engels, Hartmut, Peters, Sophia, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Boschann, Felix, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Bösch, Annemarie, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kaindl, Angela M., Holzhauer, Susanne, Bührer, Christoph, Bufler, Philip, Kornak, Uwe, Ott, Claus-Eric, Schülke, Markus, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Grasemann, Corinna, Rothoeft, Tobias, Brinkmann, Folke, Matar, Nora, Sivalingam, Sugirthan, Perne, Claudia, Mangold, Elisabeth, Kreiss, Martina, Cremer, Kirsten, Betz, Regina C., Mücke, Martin, Grigull, Lorenz, Klockgether, Thomas, Spier, Isabel, Heimbach, André, Bender, Tim, Brand, Fabian, Stieber, Christiane, Morawiec, Alexandra Marzena, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Grobe-Einsler, Marcus, Kimmich, Okka, Kobeleva, Xenia, Önder, Demet, Lesmann, Hellen, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Incardona, Pietro, Lee-Kirsch, Min Ae, Berner, Reinhard, Schuetz, Catharina, Körholz, Julia, Kretschmer, Tanita, Di Donato, Nataliya, Schröck, Evelin, Heinen, André, Reuner, Ulrike, Hanßke, Amalia-Mihaela, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Kuechler, Alma, Cordula, Kiewert, Hirtz, Raphael, Schlapakow, Elena, Schlein, Christian, Lisfeld, Jasmin, Kubisch, Christian, Herget, Theresia, Hempel, Maja, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Rudolph, Cornelia, Rillig, Franziska, Groffmann, Maximilian, Muntau, Ania, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Kaufmann, Lilian, Hinderhofer, Katrin, Okun, Pamela M., Kotzaeridou, Urania, Hoffmann, Georg F., Choukair, Daniela, Bettendorf, Markus, Spielmann, Malte, Ripke, Annekatrin, Pauly, Martje, Münchau, Alexander, Lohmann, Katja, Hüning, Irina, Hanker, Britta, Bäumer, Tobias, Herzog, Rebecca, Hellenbroich, Yorck, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Graf, Elisabeth, Brugger, Melanie, Hoefele, Julia, Oexle, Konrad, Mirza-Schreiber, Nazanin, Berutti, Riccardo, Schatz, Ulrich, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Rohlfs, Meino, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Müller-Felber, Wolfgang, Kurth, Ingo, Elbracht, Miriam, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Platzer, Konrad, Strehlow, Vincent, Abou Jamra, Rami, Kehrer, Martin, Demidov, German, Beck-Wödl, Stefanie, Graessner, Holm, Sturm, Marc, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Kaiser, Nadja, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Mundlos, Stefan, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias, Ehmke, Nadja, and Wagner, Matias

Published
2024
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2. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Author

Callejo, Emily P., Day, Kristina M., Macaya, Daniela, Maldonado-Velez, Gabriel, Archer, Stephen L., Auckland, Kathryn, Austin, Eric D., Badagliacca, Roberto, Barberà, Joan-Albert, Belge, Catharina, Bogaard, Harm Jan, Bonnet, Sébastien, Boomars, Karin A., Boucherat, Olivier, Chakinala, Murali M., Condliffe, Robin, Damico, Rachel Lynn, Delcroix, Marion, Desai, Ankit A., Doboszynska, Anna, Elliott, C. Greg, Eyries, Melanie, Escribano Subías, Maria Pilar, Gall, Henning, Ghio, Stefano, Ghofrani, Ardeschir-Hossein, Grünig, Ekkehard, Hamid, Rizwan, Harbaum, Lars, Hassoun, Paul M., Hemnes, Anna R., Hinderhofer, Katrin, Howard, Luke S., Humbert, Marc, Kiely, David G., Langleben, David, Lawrie, Allan, Loyd, Jim E., Moledina, Shahin, Montani, David, Morrell, Nichols W., Nichols, William C., Olschewski, Andrea, Olschewski, Horst, Papa, Silvia, Pauciulo, Mike W., Provencher, Steve, Quarck, Rozenn, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Stewart, Duncan J., Sweatt, Andrew, Swietlik, Emilia M., Treacy, Carmen, Trembath, Richard C., Tura-Ceide, Olga, Vizza, Carmine Dario, Vonk Noordegraaf, Anton, Wilkins, Martin R., Zamanian, Roham T., Zateyshchikov, Dmitry, Welch, Carrie L., Aldred, Micheala A., Balachandar, Srimmitha, Dooijes, Dennis, Eichstaedt, Christina A., Gräf, Stefan, Houweling, Arjan C., Machado, Rajiv D., Pandya, Divya, Prapa, Matina, Shaukat, Memoona, Southgate, Laura, Tenorio-Castano, Jair, and Chung, Wendy K.

Published
2023
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3. Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

Author

Eichstaedt, Christina A., Saßmannshausen, Zoe, Shaukat, Memoona, Cao, Ding, Xanthouli, Panagiota, Gall, Henning, Sommer, Natascha, Ghofrani, Hossein-Ardeschir, Seyfarth, Hans-Jürgen, Lerche, Marianne, Halank, Michael, Kleymann, Janina, Benjamin, Nicola, Harutyunova, Satenik, Egenlauf, Benjamin, Milger, Katrin, Rosenkranz, Stephan, Ewert, Ralf, Klose, Hans, Hoeper, Marius M., Olsson, Karen M., Lankeit, Mareike, Lange, Tobias J., Hinderhofer, Katrin, and Grünig, Ekkehard

Published
2022
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5. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Author

Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, and Retterer, Kyle

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study, AMPAR, CAMK2, CAMK2A, CAMK2B, NMDAR, de novo mutations, intellectual disability, synaptic plasticity, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. Variants were assessed for their effect on CAMK2 function and on neuronal migration. For both CAMK2A and CAMK2B, we identified mutations that decreased or increased CAMK2 auto-phosphorylation at Thr286/Thr287. We further found that all mutations affecting auto-phosphorylation also affected neuronal migration, highlighting the importance of tightly regulated CAMK2 auto-phosphorylation in neuronal function and neurodevelopment. Our data establish the importance of CAMK2A and CAMK2B and their auto-phosphorylation in human brain function and expand the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway.

Published
2017

6. Regulation of Bone Morphogenetic Protein Receptor Type II Expression by FMR1 /Fragile X Mental Retardation Protein in Human Granulosa Cells in the Context of Poor Ovarian Response.

Author

Nguyen, Xuan Phuoc, Vilkaite, Adriana, Bender, Ulrike, Dietrich, Jens E., Hinderhofer, Katrin, Strowitzki, Thomas, and Rehnitz, Julia

Subjects
GRANULOSA cells, NUCLEAR membranes, OVARIAN reserve, INTELLECTUAL disabilities, BONE morphogenetic protein receptors, INFERTILITY
Abstract

Fragile X mental retardation protein (FMRP) is a translational repressor encoded by FMR1. It targets bone morphogenetic protein receptor type II (BMPR2), which regulates granulosa cell (GC) function and follicle development. However, whether this interaction affects folliculogenesis remains unclear. Therefore, this study investigated the potential effect of FMRP-BMPR2 dysregulation in ovarian reserves and infertility. COV434 cells and patient-derived GCs were used to evaluate FMRP and BMPR2 expression. Similarly, FMR1, BMPR2, LIMK1, and SMAD expression were evaluated in GCs with normal (NOR) and poor (POR) ovarian responses. FMRP and BMPR2 were expressed in both cell types. They were co-localized to the nuclear membrane of COV434 cells and cytoplasm of primary GCs. FMR1 silencing increased the mRNA and protein levels of BMPR2. However, the mRNA levels of FMR1 and BMPR2 were significantly lower in the POR group. FMR1 and BMPR2 levels were strongly positively correlated in the NOR group but weakly correlated in the POR group. Additionally, SMAD9 expression was significantly reduced in the POR group. This study highlights the crucial role of FMR1/FMRP in the regulation of BMPR2 expression and its impact on ovarian function. These findings indicate that the disruption of FMRP-BMPR2 interactions may cause poor ovarian responses and infertility. [ABSTRACT FROM AUTHOR]

Published
2024
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7. NADPH oxidase subunit NOXO1 is a target for emphysema treatment in COPD

Author

Seimetz, Michael, Sommer, Natascha, Bednorz, Mariola, Pak, Oleg, Veith, Christine, Hadzic, Stefan, Gredic, Marija, Parajuli, Nirmal, Kojonazarov, Baktybek, Kraut, Simone, Wilhelm, Jochen, Knoepp, Fenja, Henneke, Ingrid, Pichl, Alexandra, Kanbagli, Zeki I., Scheibe, Susan, Fysikopoulos, Athanasios, Wu, Cheng-Yu, Klepetko, Walter, Jaksch, Peter, Eichstaedt, Christina, Grünig, Ekkehard, Hinderhofer, Katrin, Geiszt, Miklós, Müller, Niklas, Rezende, Flavia, Buchmann, Giulia, Wittig, Ilka, Hecker, Matthias, Hecker, Andreas, Padberg, Winfried, Dorfmüller, Peter, Gattenlöhner, Stefan, Vogelmeier, Claus F., Günther, Andreas, Karnati, Srikanth, Baumgart-Vogt, Eveline, Schermuly, Ralph T., Ghofrani, Hossein A., Seeger, Werner, Schröder, Katrin, Grimminger, Friedrich, Brandes, Ralf P., and Weissmann, Norbert

Published
2020
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9. Genetische Diagnostik und molekulare Ansätze bei pulmonalarterieller Hypertonie

Author

Eichstaedt, Christina A., additional, Bikou, Olympia, additional, Sommer, Natascha, additional, Schermuly, Ralph T., additional, Pullamsetti, Soni S., additional, Weissmann, Norbert, additional, Harbaum, Lars, additional, Tabeling, Christoph, additional, Wißmüller, Max, additional, Foris, Vasile, additional, Kuebler, Wolfgang M., additional, Hinderhofer, Katrin, additional, Olschewski, Andrea, additional, and Kwapiszewska, Grazyna, additional

Published
2023
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10. SMAD5 as a novel gene for familial pulmonary arterial hypertension

Author

Cao, Ding, primary, Sirenko, Yuriy, additional, Radchenko, Ganna, additional, Gall, Henning, additional, Ahmed, Ayat, additional, Theiß, Susanne, additional, Haas, Simon, additional, Shaukat, Memoona, additional, Saßmannshausen, Zoe, additional, Benjamin, Nicola, additional, Xanthouli, Panagiota, additional, Harutyunova, Satenik, additional, Egenlauf, Benjamin, additional, Hinderhofer, Katrin, additional, Grünig, Ekkehard, additional, Laugsch, Magdalena, additional, and Eichstaedt, Christina, additional

Published
2023
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13. Marker chromosomes can arise from chromothripsis and predict adverse prognosis in acute myeloid leukemia

Author

Bochtler, Tilmann, Granzow, Martin, Stölzel, Friedrich, Kunz, Christina, Mohr, Brigitte, Kartal-Kaess, Mutlu, Hinderhofer, Katrin, Heilig, Christoph E., Kramer, Michael, Thiede, Christian, Endris, Volker, Kirchner, Martina, Stenzinger, Albrecht, Benner, Axel, Bornhäuser, Martin, Ehninger, Gerhard, Ho, Anthony D., Jauch, Anna, and Krämer, Alwin

Published
2017
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14. X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Author

Kolvenbach, Caroline M, Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepańska, Maria, Zaniew, Marcin, Adamczyk, Piotr, Bayat, Allan, Yilmaz, Öznur, Lindenberg, Tobias T, Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C, Sullivan, Bonnie, Bartik, Lauren, Gnyś, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M, and Dworschak, Gabriel C

Subjects
ddc:610
Abstract

Background SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract and the visceral or the cardiovascular system.MethodsHere, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and knockdown (KD) experiments using a splice blocking morpholino in zebrafish were performed to study the role of SHROOM4 during embryonic development.ResultsIn this study, we identified putative disease-causing SNVs and CNVs in SHROOM4 in six individuals from four families with congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (CNS). Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino.ConclusionThe identified SNVs and CNVs in affected individuals with congenital anomalies of the urinary tract, the anorectal, the cardiovascular and the central nervous systems, and subsequent embryonic mouse and zebrafish studies suggest SHROOM4 as a developmental gene for different organ systems.

Published
2023

15. Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

Author

Gramer, Gwendolyn, Haege, Gisela, Fang-Hoffmann, Junmin, Hoffmann, Georg F., Bartram, Claus R., Hinderhofer, Katrin, Burgard, Peter, Lindner, Martin, Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor

Published
2015
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16. BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis

Author

Evans, Jonathan D W, Girerd, Barbara, Montani, David, Wang, Xiao-Jian, Galiè, Nazzareno, Austin, Eric D, Elliott, Greg, Asano, Koichiro, Grünig, Ekkehard, Yan, Yi, Jing, Zhi-Cheng, Manes, Alessandra, Palazzini, Massimiliano, Wheeler, Lisa A, Nakayama, Ikue, Satoh, Toru, Eichstaedt, Christina, Hinderhofer, Katrin, Wolf, Matthias, Rosenzweig, Erika B, Chung, Wendy K, Soubrier, Florent, Simonneau, Gérald, Sitbon, Olivier, Gräf, Stefan, Kaptoge, Stephen, Di Angelantonio, Emanuele, Humbert, Marc, and Morrell, Nicholas W

Published
2016
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17. Genetic counselling and testing in pulmonary arterial hypertension:a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Author

Eichstaedt, Christina A., Belge, Catharina, Chung, Wendy K., Gräf, Stefan, Grünig, Ekkehard, Montani, David, Quarck, Rozenn, Tenorio-Castano, Jair A., Soubrier, Florent, Trembath, Richard C., Morrell, Nicholas W., Aldred, Micheala A., Archer, Stephen L., Austin, Eric D., Badagliacca, Roberto, Balanchandar, Srimmitha, Barberà, Joan Albert, Benza, Raymond L., Berger, Rolf M.F., Bogaard, Harm Jan, Bonnet, Sébastien, Boomars, Karin A., Boucherat, Olivier, Chakinala, Murali M., Condliffe, Robin, Damico, Rachel Lynn, Delcroix, Marion, Desai, Ankit A., Doboszynska, Anna, Dooijes, Dennis, Elliott, C. Greg, Eyries, Melanie, Subías, Maria Pilar Escribano, Gall, Henning, García-Aranda, Beatriz, Ghio, Stefano, Ghofrani, Hossein Ardeschir, Hamid, Rizwan, Hassoun, Paul M., Hemnes, Anna R., Hinderhofer, Katrin, Houweling, Arjan C., Howard, Luke S., Humbert, Marc, Kiely, David G., Kovacs, Gabor, Langleben, David, Lapunzina, Pablo, Lawrie, Allan, Loyd, Jim E., Eichstaedt, Christina A., Belge, Catharina, Chung, Wendy K., Gräf, Stefan, Grünig, Ekkehard, Montani, David, Quarck, Rozenn, Tenorio-Castano, Jair A., Soubrier, Florent, Trembath, Richard C., Morrell, Nicholas W., Aldred, Micheala A., Archer, Stephen L., Austin, Eric D., Badagliacca, Roberto, Balanchandar, Srimmitha, Barberà, Joan Albert, Benza, Raymond L., Berger, Rolf M.F., Bogaard, Harm Jan, Bonnet, Sébastien, Boomars, Karin A., Boucherat, Olivier, Chakinala, Murali M., Condliffe, Robin, Damico, Rachel Lynn, Delcroix, Marion, Desai, Ankit A., Doboszynska, Anna, Dooijes, Dennis, Elliott, C. Greg, Eyries, Melanie, Subías, Maria Pilar Escribano, Gall, Henning, García-Aranda, Beatriz, Ghio, Stefano, Ghofrani, Hossein Ardeschir, Hamid, Rizwan, Hassoun, Paul M., Hemnes, Anna R., Hinderhofer, Katrin, Houweling, Arjan C., Howard, Luke S., Humbert, Marc, Kiely, David G., Kovacs, Gabor, Langleben, David, Lapunzina, Pablo, Lawrie, Allan, and Loyd, Jim E.

Abstract

Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and healthcare professionals are increasingly faced with a range of questions regarding the need for, approaches to and benefits/risks of genetic testing for PAH patients and/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives through the process of genetic counselling, and describe the presently known disease causal genes to be analysed. Benefits of including molecular genetic testing within the management protocol of patients with PAH include the identification of individuals misclassified by other diagnostic approaches, the optimisation of phenotypic characterisation for aggregation of outcome data, including in clinical trials, and importantly through cascade screening, the detection of healthy causal variant carriers, to whom regular assessment should be offered.

Published
2023

18. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Author

Schmidt, Axel, primary, Danyel, Magdalena, additional, Grundmann, Kathrin, additional, Brunet, Theresa, additional, Klinkhammer, Hannah, additional, Hsieh, Tzung-Chien, additional, Engels, Hartmut, additional, Peters, Sophia, additional, Knaus, Alexej, additional, Moosa, Shahida, additional, Averdunk, Luisa, additional, Boschann, Felix, additional, Sczakiel, Henrike, additional, Schwartzmann, Sarina, additional, Mensah, Martin Atta, additional, Pantel, Jean Tori, additional, Holtgrewe, Manuel, additional, Boesch, Annemarie, additional, Weiss, Claudia, additional, Weinhold, Natalie, additional, Suter, Aude-Annick, additional, Stoltenburg, Corinna, additional, Neugebauer, Julia, additional, Kallinich, Tillmann, additional, Kaindl, Angela M., additional, Holzhauer, Susanne, additional, Buehrer, Christoph, additional, Bufler, Philip, additional, Kornak, Uwe, additional, Ott, Claus-Eric, additional, Schuelke, Markus, additional, Nguyen, Hoa Huu Phuc, additional, Hoffjan, Sabine, additional, Grasemann, Corinna, additional, Rothoeft, Tobias, additional, Brinkmann, Folke, additional, Matar, Nora, additional, Sivalingam, Sugirthan, additional, Perne, Claudia, additional, Mangold, Elisabeth, additional, Kreiss, Martina, additional, Cremer, Kirsten, additional, Betz, Regina C., additional, Bender, Tim, additional, Muecke, Martin, additional, Grigull, Lorenz, additional, Klockgether, Thomas, additional, Isabel, Spier, additional, Heimbach, Andre, additional, Tim, Bender, additional, Brand, Fabian, additional, Stieber, Christiane, additional, Morawiec, Alexandra Marzena, additional, Karakostas, Pantelis, additional, Schaefer, Valentin S., additional, Bernsen, Sarah, additional, Weydt, Patrick, additional, Castro-Gomez, Sergio, additional, Aziz, Ahmad, additional, Grobe-Einsler, Marcus, additional, Kimmich, Okka, additional, Kobeleva, Xenia, additional, oender, Demet, additional, Lesmann, Hellen, additional, Kumar, Sheetal, additional, Tacik, Pawel, additional, Lee-Kirsch, Min Ae, additional, Berner, Reinhard, additional, Schuetz, Catharina, additional, Koerholz, Julia, additional, Kretschmer, Tanita, additional, Di Donato, Nataliya, additional, Schroeck, Evelin, additional, Heinen, Andre, additional, Reuner, Ulrike, additional, Hansske, Amalia-Mihaela, additional, Kaiser, Frank J., additional, Manka, Eva, additional, Munteanu, Martin, additional, Kuechler, Alma, additional, Cordula, Kiewert, additional, Hirtz, Raphael, additional, Schlapakow, Elena, additional, Schlein, Christian, additional, Lisfeld, Jasmin, additional, Kubisch, Christian, additional, Herget, Theresia, additional, Hempel, Maja, additional, Weiler-Normann, Christina, additional, Ullrich, Kurt, additional, Schramm, Christoph, additional, Rudolph, Cornelia, additional, Rillig, Franziska, additional, Groffmann, Maximilian, additional, Muntau, Ania, additional, Tibelius, Alexandra, additional, Schwaibold, Eva M. C., additional, Schaaf, Christian P., additional, Zawada, Michal, additional, Kaufmann, Lilian, additional, Hinderhofer, Katrin, additional, Okun, Pamela M., additional, Kotzaeridou, Urania, additional, Hoffmann, Georg F., additional, Choukair, Daniela, additional, Bettendorf, Markus, additional, Spielmann, Malte, additional, Ripke, Annekatrin, additional, Pauly, Martje, additional, Muenchau, Alexander, additional, Lohmann, Katja, additional, Huening, Irina, additional, Hanker, Britta, additional, Baeumer, Tobias, additional, Herzog, Rebecca, additional, Hellenbroich, Yorck, additional, Westphal, Dominik S., additional, Strom, Tim, additional, Kovacs, Reka, additional, Riedhammer, Korbinian M., additional, Mayerhanser, Katharina, additional, Graf, Elisabeth, additional, Brugger, Melanie, additional, Hoefele, Julia, additional, Oexle, Konrad, additional, Mirza-Schreiber, Nazanin, additional, Berutti, Riccardo, additional, Schatz, Ulrich, additional, Krenn, Martin, additional, Makowski, Christine, additional, Weigand, Heike, additional, Schroeder, Sebastian, additional, Rohlfs, Meino, additional, Katharina, Vill, additional, Hauck, Fabian, additional, Borggraefe, Ingo, additional, Mueller-Felber, Wolfgang, additional, Kurth, Ingo, additional, Elbracht, Miriam, additional, Knopp, Cordula, additional, Begemann, Matthias, additional, Kraft, Florian, additional, Lemke, Johannes, additional, Hentschel, Julia, additional, Platzer, Konrad, additional, Strehlow, Vincent, additional, Abou Jamra, Rami, additional, Kehrer, Martin, additional, Demidov, German, additional, Beck-Woedl, Stefanie, additional, Graessner, Holm, additional, Sturm, Marc, additional, Zeltner, Lena, additional, Schoels, Ludger J., additional, Magg, Janine, additional, Bevot, Andrea, additional, Kehrer, Christiane, additional, Kaiser, Nadja, additional, Horn, Denise, additional, Grueters-Kieslich, Annette, additional, Klein, Christoph, additional, Mundlos, Stefan, additional, Noethen, Markus, additional, Riess, Olaf, additional, Meitinger, Thomas, additional, Krude, Heiko, additional, Krawitz, Peter M., additional, Haack, Tobias, additional, Ehmke, Nadja, additional, and Wagner, Matias, additional

Published
2023
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19. Is iron deficiency caused by BMPR2 mutations or dysfunction in pulmonary arterial hypertension patients?

Author

Theobald, Vivienne, primary, Grünig, Ekkehard, additional, Benjamin, Nicola, additional, Seyfarth, Hans‐Jürgen, additional, Halank, Michael, additional, Schneider, Marc A., additional, Richtmann, Sarah, additional, Kazdal, Daniel, additional, Hinderhofer, Katrin, additional, Xanthouli, Panagiota, additional, Egenlauf, Benjamin, additional, Harutyunova, Satenik, additional, Hoeper, Marius M., additional, Jonigk, Danny, additional, Sparla, Richard, additional, Muckenthaler, Martina U., additional, and Eichstaedt, Christina A., additional

Published
2023
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21. Author Correction: NADPH oxidase subunit NOXO1 is a target for emphysema treatment in COPD

Author

Seimetz, Michael, Sommer, Natascha, Bednorz, Mariola, Pak, Oleg, Veith, Christine, Hadzic, Stefan, Gredic, Marija, Parajuli, Nirmal, Kojonazarov, Baktybek, Kraut, Simone, Wilhelm, Jochen, Knoepp, Fenja, Henneke, Ingrid, Pichl, Alexandra, Kanbagli, Zeki I., Scheibe, Susan, Fysikopoulos, Athanasios, Wu, Cheng-Yu, Klepetko, Walter, Jaksch, Peter, Eichstaedt, Christina, Grünig, Ekkehard, Hinderhofer, Katrin, Geiszt, Miklós, Müller, Niklas, Rezende, Flavia, Buchmann, Giulia, Wittig, Ilka, Hecker, Matthias, Hecker, Andreas, Padberg, Winfried, Dorfmüller, Peter, Gattenlöhner, Stefan, Vogelmeier, Claus F., Günther, Andreas, Karnati, Srikanth, Baumgart-Vogt, Eveline, Schermuly, Ralph T., Ghofrani, Hossein A., Seeger, Werner, Schröder, Katrin, Grimminger, Friedrich, Brandes, Ralf P., and Weissmann, Norbert

Published
2020
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24. X-linked variations inSHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Author

Kolvenbach, Caroline M, primary, Felger, Tim, additional, Schierbaum, Luca, additional, Thiffault, Isabelle, additional, Pastinen, Tomi, additional, Szczepańska, Maria, additional, Zaniew, Marcin, additional, Adamczyk, Piotr, additional, Bayat, Allan, additional, Yilmaz, Öznur, additional, Lindenberg, Tobias T, additional, Thiele, Holger, additional, Hildebrandt, Friedhelm, additional, Hinderhofer, Katrin, additional, Moog, Ute, additional, Hilger, Alina C, additional, Sullivan, Bonnie, additional, Bartik, Lauren, additional, Gnyś, Piotr, additional, Grote, Phillip, additional, Odermatt, Benjamin, additional, Reutter, Heiko M, additional, and Dworschak, Gabriel C, additional

Published
2022
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27. Genetic counselling and testing in pulmonary arterial hypertension -A consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Author

Eichstaedt, Christina A., Belge, Catharina, Chung, Wendy K., Gräf, Stefan, Grünig, Ekkehard, Montani, David, Quarck, Rozenn, Tenorio-Castano, Jair A., Soubrier, Florent, Trembath, Richard C., Morrell, Nicholas W., Aldred, Micheala A., Archer, Stephen L., Austin, Eric D., Badagliacca, Roberto, Balanchandar, Srimmitha, Barberà, Joan Albert, Benza, Raymond L., Berger, Rolf M.F., Bogaard, Harm Jan, Bonnet, Sébastien, Boomars, Karin A., Boucherat, Olivier, Chakinala, Murali M., Condliffe, Robin, Damico, Rachel Lynn, Delcroix, Marion, Desai, Ankit A., Doboszynska, Anna, Dooijes, Dennis, Elliott, C. Greg, Eyries, Melanie, Subías, Maria Pilar Escribano, Gall, Henning, García-Aranda, Beatriz, Ghio, Stefano, Ghofrani, Hossein Ardeschir, Hamid, Rizwan, Hassoun, Paul M., Hemnes, Anna R., Hinderhofer, Katrin, Houweling, Arjan C., Howard, Luke S., Humbert, Marc, Kiely, David G., Kovacs, Gabor, Langleben, David, Lapunzina, Pablo, Lawrie, Allan, Loyd, Jim E., Pulmonary Medicine, Clinical Genetics, Epidemiology, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, CCA - Cancer Treatment and quality of life, and CCA - Cancer biology and immunology

Subjects
Pulmonary and Respiratory Medicine, consensus, screening, pulmonary arterial hypertension (PAH), rare disease, BMPR2 (bone morphogenetic protein receptor 2), consensus, genetic counselling, rare disease, BMPR2 (bone morphogenetic protein receptor 2), PAH-ICON associated with the PVRI, genetic counselling
Abstract

Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and healthcare professionals are increasingly faced with a range of questions regarding the need for, approaches to and benefits/risks of genetic testing for PAH patients and/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives through the process of genetic counselling, and describe the presently known disease causal genes to be analysed. Benefits of including molecular genetic testing within the management protocol of patients with PAH include the identification of individuals misclassified by other diagnostic approaches, the optimisation of phenotypic characterisation for aggregation of outcome data, including in clinical trials, and importantly through cascade screening, the detection of healthy causal variant carriers, to whom regular assessment should be offered. ispartof: EUROPEAN RESPIRATORY JOURNAL vol:61 issue:2 ispartof: location:England status: published

Published
2022
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29. X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.

Author

Kolvenbach, Caroline M., Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepańska, Maria, Zaniew, Marcin, Adamczyk, Piotr, Bayat, Allan, Yilmaz, Öznur, Lindenberg, Tobias T., Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C., Sullivan, Bonnie, Bartik, Lauren, Gnyś, Piotr, and Grote, Phillip

Abstract

Background: SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract and the visceral or the cardiovascular system. Methods: Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and knockdown (KD) experiments using a splice blocking morpholino in zebrafish were performed to study the role of SHROOM4 during embryonic development. Results: In this study, we identified putative disease-causing SNVs and CNVs in SHROOM4 in six individuals from four families with congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (CNS). Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. Conclusion: The identified SNVs and CNVs in affected individuals with congenital anomalies of the urinary tract, the anorectal, the cardiovascular and the central nervous systems, and subsequent embryonic mouse and zebrafish studies suggest SHROOM4 as a developmental gene for different organ systems. [ABSTRACT FROM AUTHOR]

Published
2023
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32. Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?

Author

Theobald, Vivienne, Benjamin, Nicola, Seyfarth, Hans-Jürgen, Halank, Michael, Schneider, Marc A., Richtmann, Sarah, Hinderhofer, Katrin, Xanthouli, Panagiota, Egenlauf, Benjamin, Seeger, Rebekka, Hoeper, Marius M., Jonigk, Danny, Grünig, Ekkehard, Eichstaedt, Christina A., Theobald, Vivienne, Benjamin, Nicola, Seyfarth, Hans-Jürgen, Halank, Michael, Schneider, Marc A., Richtmann, Sarah, Hinderhofer, Katrin, Xanthouli, Panagiota, Egenlauf, Benjamin, Seeger, Rebekka, Hoeper, Marius M., Jonigk, Danny, Grünig, Ekkehard, and Eichstaedt, Christina A.

Abstract

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 systematic study evaluating expression in more easily accessible blood samples and its clinical relevance is lacking. Thus, we analyzed the BMPR2 mRNA expression in idiopathic/HPAH patients and healthy controls in blood by quantitative polymerase chain reaction and protein expression by enzyme-linked immunosorbent assay. Clinical parameters included right heart catherization, echocardiography, six-minute walking test and laboratory tests. BMPR2 variant-carriers (n = 23) showed significantly lower BMPR2 mRNA expression in comparison to non-carriers (n = 56) and healthy controls (n = 30; p < 0.0001). No difference in BMPR2 protein expression was detected. Lower BMPR2 mRNA expression correlated significantly with greater systolic pulmonary artery pressure and pulmonary vascular resistance. Higher BMPR2 mRNA expression correlated with greater glomerular filtration rate, cardiac index and six-minute walking distance. We demonstrated the feasibility to assess BMPR2 expression in blood and, for the first time, that BMPR2 mRNA expression levels are significantly reduced in variant carriers and correlated with clinical parameters. Further studies may evaluate the usefulness of BMPR2 mRNA expression in blood as a new marker for disease severity.

Published
2022

33. Lysozyme amyloidosis—a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant

Author

Anker, Sophie, primary, Hinderhofer, Katrin, additional, Baur, Julian, additional, Haupt, Christian, additional, Röcken, Christoph, additional, Beimler, Jörg, additional, Zeier, Martin, additional, Weiler, Markus, additional, Wühl, Elke, additional, Kimmich, Christoph, additional, Schönland, Stefan, additional, and Hegenbart, Ute, additional

Published
2022
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34. Reduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?

Author

Theobald, Vivienne, primary, Benjamin, Nicola, additional, Seyfarth, Hans-Jürgen, additional, Halank, Michael, additional, Schneider, Marc A., additional, Richtmann, Sarah, additional, Hinderhofer, Katrin, additional, Xanthouli, Panagiota, additional, Egenlauf, Benjamin, additional, Seeger, Rebekka, additional, Hoeper, Marius M., additional, Jonigk, Danny, additional, Grünig, Ekkehard, additional, and Eichstaedt, Christina A., additional

Published
2022
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36. Additional file 1 of Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

Author

Eichstaedt, Christina A., Saßmannshausen, Zoe, Shaukat, Memoona, Cao, Ding, Xanthouli, Panagiota, Gall, Henning, Sommer, Natascha, Ghofrani, Hossein-Ardeschir, Seyfarth, Hans-Jürgen, Lerche, Marianne, Halank, Michael, Kleymann, Janina, Benjamin, Nicola, Harutyunova, Satenik, Egenlauf, Benjamin, Milger, Katrin, Rosenkranz, Stephan, Ewert, Ralf, Klose, Hans, Hoeper, Marius M., Olsson, Karen M., Lankeit, Mareike, Lange, Tobias J., Hinderhofer, Katrin, and Grünig, Ekkehard

Abstract

Additional file 1: Table S1. (Likely) pathogenic BMPR2 variants identified in the cohort.

Published
2022
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39. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Author

Machado, Rajiv D., Southgate, Laura, Eichstaedt, Christina A., Aldred, Micheala A., Austin, Eric D., Best, Hunter D., Chung, Wendy K., Benjamin, Nicola, Elliott, Gregory C., Eyries, Mélanie, Fischer, Christine, Gräf, Stefan, Hinderhofer, Katrin, Humbert, Marc, Keiles, Steven B., Loyd, James E., Morrell, Nicholas W., Newman, John H., Soubrier, Florent, Trembath, Richard C., Viales, Rebecca Rodríguez, and Grünig, Ekkehard

Published
2015
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47. X-linked variations in SHROOM4are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Author

Kolvenbach, Caroline M, Felger, Tim, Schierbaum, Luca, Thiffault, Isabelle, Pastinen, Tomi, Szczepańska, Maria, Zaniew, Marcin, Adamczyk, Piotr, Bayat, Allan, Yilmaz, O¨znur, Lindenberg, Tobias T, Thiele, Holger, Hildebrandt, Friedhelm, Hinderhofer, Katrin, Moog, Ute, Hilger, Alina C, Sullivan, Bonnie, Bartik, Lauren, Gnyś, Piotr, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M, and Dworschak, Gabriel C

Abstract

BackgroundSHROOM4is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract and the visceral or the cardiovascular system.MethodsHere, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and knockdown(KD) experiments using a splice blocking morpholino in zebrafish were performed to study the role of SHROOM4during embryonic development.ResultsIn this study, we identified putative disease-causing SNVs and CNVs in SHROOM4in six individuals from four families with congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (CNS). Embryonic mouse and zebrafish expression studies showed Shroom4expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4mRNA and morpholino.ConclusionThe identified SNVs and CNVs in affected individuals with congenital anomalies of the urinary tract, the anorectal, the cardiovascular and the central nervous systems, and subsequent embryonic mouse and zebrafish studies suggest SHROOM4as a developmental gene for different organ systems.

Published
2023
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