Search Results - "Rutsch, Frank"

CRLF1 and CLCF1 in Development, Health and Disease by Crisponi, Laura, Buers, Insa, Rutsch, Frank

“…Cytokines and their receptors have a vital function in regulating various processes such as immune function, inflammation, haematopoiesis, cell growth and…”
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Genetics in Arterial Calcification: Lessons Learned From Rare Diseases by Nitschke, Yvonne, Rutsch, Frank

“…Arterial calcification significantly contributes to morbidity and mortality. Insight into the pathophysiological mechanisms contributing to arterial…”
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ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP by Nitschke, Yvonne, Yan, Yan, Buers, Insa, Kintziger, Kristina, Askew, Kim, Rutsch, Frank

“…Generalized arterial calcification of infancy (GACI) is associated with widespread arterial calcification and stenoses and is caused by mutations in ENPP1 …”
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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome by Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.

“…Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification,…”
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Improved Reversion of Calcifications in Porcine Aortic Heart Valves Using Elastin-Targeted Nanoparticles by Feldmann, Anja, Nitschke, Yvonne, Linß, Franziska, Mulac, Dennis, Stücker, Sina, Bertrand, Jessica, Buers, Insa, Langer, Klaus, Rutsch, Frank

“…Calcified aortic valve disease in its final stage leads to aortic valve stenosis, limiting cardiac function. To date, surgical intervention is the only option…”
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SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection by Berger, André, Sommer, Andreas F R, Zwarg, Jenny, Hamdorf, Matthias, Welzel, Karin, Esly, Nicole, Panitz, Sylvia, Reuter, Andreas, Ramos, Irene, Jatiani, Asavari, Mulder, Lubbertus C F, Fernandez-Sesma, Ana, Rutsch, Frank, Simon, Viviana, König, Renate, Flory, Egbert

“…Myeloid blood cells are largely resistant to infection with human immunodeficiency virus type 1 (HIV-1). Recently, it was reported that Vpx from HIV-2/SIVsm…”
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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism by Coelho, David, Kim, Jaeseung C, Miousse, Isabelle R, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nürnberg, Peter, Thiele, Holger, Robenek, Horst, Höhne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A, Majewski, Jacek, Rosenblatt, David S, Fowler, Brian, Rutsch, Frank, Baumgartner, Matthias R

“…Brian Fowler, David Rosenblatt and colleagues show that mutations in the ABC transporter gene ABCD4 cause a new inborn error of vitamin B 12 metabolism. ABCD4…”
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ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification by Ralph, Douglas, Nitschke, Yvonne, Levine, Michael A, Caffet, Matthew, Wurst, Tamara, Saeidian, Amir Hossein, Youssefian, Leila, Vahidnezhad, Hassan, Terry, Sharon F, Rutsch, Frank, Uitto, Jouni, Li, Qiaoli

“…Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification…”
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Future treatments for the arteriopathy of ectopic calcification disorders by Davies, Benjamin M., Rutsch, Frank, Vyavahare, Naren, Jones, Alexander

“…Ectopic calcification disorders, including Generalized Arterial Calcification of Infancy (GACI) and Pseudoxanthoma Elasticum are rare but impactful on…”
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Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases by Chunn, Lauren M, Bissonnette, Jeffrey, Heinrich, Stefanie V, Mercurio, Stephanie A, Kiel, Mark J, Rutsch, Frank, Ferreira, Carlos R

“…ENPP1 Deficiency-caused by biallelic variants in ENPP1-leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy,…”
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Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial by Muntau, Ania C, Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S, Lane, Paul, Alvarez, Ignacio, Rutsch, Frank

“…During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic…”
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Modulators of networks: molecular targets of arterial calcification identified in man and mice by Nitschke, Yvonne, Rutsch, Frank

“…In recent years, mechanisms of arterial calcifications are beginning to be elucidated. Arterial calcification is now considered as an actively regulated…”
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MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum by Buers, Insa, Rice, Gillian I, Crow, Yanick J, Rutsch, Frank

“…In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition,…”
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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study by Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas

“…The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder,…”
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P034: Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population by McNutt, Markey, Sazova, Ogun, Gu, Karen, Rose, Sarah, Karimi, Milad, Rutsch, Frank, Muntau, Ania

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Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism by Rutsch, Frank, Gailus, Susann, Miousse, Isabelle R, Suormala, Terttu, Sagné, Corinne, Toliat, Mohammad Reza, Nürnberg, Gudrun, Wittkampf, Tanja, Buers, Insa, Sharifi, Azita, Stucki, Martin, Becker, Christian, Baumgartner, Matthias, Robenek, Horst, Marquardt, Thorsten, Höhne, Wolfgang, Gasnier, Bruno, Rosenblatt, David S, Fowler, Brian, Nürnberg, Peter

“…Frank Rutsch and colleagues show that the cblF inborn error of vitamin B 12 metabolism, which is characterized by accumulation of free vitamin B 12 in…”
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Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet by Bäck, Magnus, Aranyi, Tamas, Cancela, M Leonor, Carracedo, Miguel, Conceição, Natércia, Leftheriotis, Georges, Macrae, Vicky, Martin, Ludovic, Nitschke, Yvonne, Pasch, Andreas, Quaglino, Daniela, Rutsch, Frank, Shanahan, Catherine, Sorribas, Victor, Szeri, Flora, Valdivielso, Pedro, Vanakker, Olivier, Kempf, Hervé

“…The physicochemical deposition of calcium-phosphate in the arterial wall is prevented by calcification inhibitors. Studies in cohorts of patients with rare…”
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Inhibition of Vascular Smooth Muscle Cell Proliferation by ENPP1: The Role of CD73 and the Adenosine Signaling Axis by Tchernychev, Boris, Nitschke, Yvonne, Chu, Di, Sullivan, Caitlin, Flaman, Lisa, O'Brien, Kevin, Howe, Jennifer, Cheng, Zhiliang, Thompson, David, Ortiz, Daniel, Rutsch, Frank, Sabbagh, Yves

“…The Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) ectoenzyme regulates vascular intimal proliferation and mineralization of bone and soft tissues…”
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Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study by Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas

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Npp1 promotes atherosclerosis in ApoE knockout mice by Nitschke, Yvonne, Weissen‐Plenz, Gabriele, Terkeltaub, Robert, Rutsch, Frank

“…Ecto‐nucleotide pyrophosphatase/phosphodiesterase 1 (NPP1) generates inorganic pyrophosphate (PPi), a physiologic inhibitor of hydroxyapatite deposition. In a…”
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