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1. Virtual auscultation course via video chat in times of COVID-19 improves cardiac auscultation skills compared to literature self-study in third-year medical students: a prospective randomized controlled cross-over study

Author

Rüllmann, Nils, Hirtz, Raphael, Lee, Unaa, Klein, Kathrin, Mayatepek, Ertan, Malzkorn, Bastian, and Döing, Carsten

Subjects
virtual auscultation, video chat, literature self-study, distance-based learning, patient simulator, heart auscultation, covid-19, skills lab, peer teaching, Special aspects of education, LC8-6691, Medicine
Abstract

Background: Cardiac auscultation is a core clinical skill taught in medical school. Due to contact restrictions during the SARS-CoV-2 pandemic, interaction with patients was very limited. Therefore, a peer-to-peer virtual case-based auscultation course via video conference was established.Methods: A randomized controlled cross-over study was conducted to evaluate whether participation in a virtual auscultation course could improve heart auscultation skills in 3-year medical students. A total of sixty medical students were randomly assigned to either the experimental or control group after informed consent was obtained. Due to no-shows, 55 students participated. Depending on allocation, students attended three ninety-minute courses in intervals of one week in a different order: a virtual case-based auscultation course held via video chat, literature self-study, and an on-site course using a high-fidelity auscultation simulator (SAM II). The study's primary endpoint was the performance of the two groups at the simulator after participating in the virtual auscultation course or literature self-study. To evaluate their auscultation skills, students participated in five assessments using the same six pathologies: stenosis and regurgitation of the aortic and mitral valve, ventricular septal defect, and patent ductus arteriosus. Moreover, participants rated their satisfaction with each course and provided a self-assessment of competence.Results: Compared to literature self-study, participation in the virtual auscultation course led to a significantly improved description of heart murmurs at the auscultation simulator with regard to the presence in systole and diastole, low- and high-pitched sounds, and volume dynamics. There was no significant difference between the groups in diagnostic accuracy and identification of the point of maximal intensity. After the virtual course, students showed higher satisfaction rates and a higher increase in self-assessed competence compared to participants who engaged in literature self-study.Conclusions: For the first time, this study demonstrates that a case-based virtual auscultation course can improve aspects of cardiac auscultation skills on a simulator. This may facilitate the further acquisition of an essential clinical skill, even when contact restrictions will be lifted.

Published
2022
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2. Virtual auscultation course for medical students via video chat in times of COVID-19

Author

Rüllmann, Nils, Lee, Unaa, Klein, Kathrin, Malzkorn, Bastian, Mayatepek, Ertan, Schneider, Matthias, and Döing, Carsten

Subjects
covid-19, distance learning, virtual auscultation, case-based learning, peer-teaching, skills lab, video chat, Special aspects of education, LC8-6691, Medicine
Abstract

Introduction: Auscultation skills are among the basic techniques to be learned in medical school. Such skills are achieved through supervised examination of patients often supported by simulator-based learning.The emergence of COVID-19 has disrupted and continues to hinder hands-on on-site medical training on a global scale. Project description: An effective virtual auscultation course was established in times of contact restrictions due to COVID-19 at the Medical Faculty of the Heinrich Heine University Düsseldorf. The interactive case-based webinar was designed to improve listening techniques, description and interpretation of auscultation findings in an off-site context. Clinical cases with pre-recorded auscultation sounds and additional case-based diagnostics were presented. The course focused on common heart murmurs including aortic and mitral valve stenosis and regurgitation as well as congenital heart defects (ventricular septal defect and patent ductus arteriosus).Results: The course was well received by the students and assessed as being useful and instructive. Assessment of learning effects, such as detection of pathological findings before and after training, is ongoing as part of a subsequent trial. Conclusion: Virtual interactive learning using a sound simulation lesson with clinical case presentations via video chat can well be used as a supplement to practical auscultation training. This learning format could also play a useful role in the curriculum of medical studies once contact restrictions are revoked.

Published
2020
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4. Concomitant parasite infections influence tuberculosis immunopathology and favor rapid sputum conversion of pulmonary tuberculosis patients

Author

Yeboah, Augustine, Vivekanandan, Monikamira, Adankwah, Ernest, Owusu, Dorcas O., Aniagyei, Wilfred, Minadzi, Difery, Acheampong, Isaac, Arthur, Joseph F., Lamptey, Millicent, Abass, Mohammed K., Kumbel, Francis, Osei-Yeboah, Francis, Gawusu, Amidu, Debrah, Linda Batsa, Debrah, Alexander, Mayatepek, Ertan, Seyfarth, Julia, Phillips, Richard O., and Jacobsen, Marc

Published
2024
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5. Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure

Author

Lisowski, Pawel, Lickfett, Selene, Rybak-Wolf, Agnieszka, Menacho, Carmen, Le, Stephanie, Pentimalli, Tancredi Massimo, Notopoulou, Sofia, Dykstra, Werner, Oehler, Daniel, López-Calcerrada, Sandra, Mlody, Barbara, Otto, Maximilian, Wu, Haijia, Richter, Yasmin, Roth, Philipp, Anand, Ruchika, Kulka, Linda A. M., Meierhofer, David, Glazar, Petar, Legnini, Ivano, Telugu, Narasimha Swamy, Hahn, Tobias, Neuendorf, Nancy, Miller, Duncan C., Böddrich, Annett, Polzin, Amin, Mayatepek, Ertan, Diecke, Sebastian, Olzscha, Heidi, Kirstein, Janine, Ugalde, Cristina, Petrakis, Spyros, Cambridge, Sidney, Rajewsky, Nikolaus, Kühn, Ralf, Wanker, Erich E., Priller, Josef, Metzger, Jakob J., and Prigione, Alessandro

Published
2024
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6. Differences in PPD- and mitogen-induced T-cell activation marker expression characterize immunopathology in acute tuberculosis patients

Author

Acheampong, Isaac, Minadzi, Difery, Laing, Edwin F., Frimpong, Michael, Vivekanandan, Monika M., Yeboah, Augustine, Adankwah, Ernest, Aniagyei, Wilfred, Arthur, Joseph F., Lamptey, Millicent, Abass, Mohammed K., Kumbel, Francis, Osei-Yeboah, Francis, Gawusu, Amidu, Debrah, Linda Batsa, Owusu, Dorcas O., Debrah, Alexander, Mayatepek, Ertan, Seyfarth, Julia, Phillips, Richard O., and Jacobsen, Marc

Published
2024
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7. Monocyte transcriptome signatures of inflammation and enhanced neutrophil recruitment characterize immunopathology in the blood of tuberculosis patients

Author

Ahor, Hubert Senanu, Vivekanandan, Monika M., Adankwah, Ernest, Minadzi, Difery, Acheampong, Isaac, Aniagyei, Wilfred, Yeboah, Augustine, Arthur, Joseph F., Lamptey, Millicent, Abass, Mohammed K., Kumbel, Francis, Osei-Yeboah, Francis, Gawusu, Amidu, Petzsch, Patrick, Köhrer, Karl, Debrah, Linda Batsa, Owusu, Dorcas O., Debrah, Alexander, Mayatepek, Ertan, Seyfarth, Julia, Phillips, Richard O., and Jacobsen, Marc

Published
2024
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9. Impaired T-cell response to phytohemagglutinin (PHA) in tuberculosis patients is associated with high IL-6 plasma levels and normalizes early during anti-mycobacterial treatment

Author

Vivekanandan, Monika M., Adankwah, Ernest, Aniagyei, Wilfred, Acheampong, Isaac, Minadzi, Difery, Yeboah, Augustine, Arthur, Joseph F., Lamptey, Millicent, Abass, Mohammed K., Kumbel, Francis, Osei-Yeboah, Francis, Gawusu, Amidu, Debrah, Linda Batsa, Owusu, Dorcas O., Debrah, Alexander, Mayatepek, Ertan, Seyfarth, Julia, Phillips, Richard O., and Jacobsen, Marc

Published
2023
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12. Diminished Interleukin-7 receptor expression on T-cell subsets in tuberculosis patients

Author

Acheampong, Isaac, Minadzi, Difery, Adankwah, Ernest, Aniagyei, Wilfred, Vivekanandan, Monika M., Yeboah, Augustine, Arthur, Joseph F., Lamptey, Millicent, Abass, Mohammed K., Kumbel, Francis, Osei-Yeboah, Francis, Gawusu, Amidu, Laing, Edwin F., Batsa Debrah, Linda, Owusu, Dorcas O., Debrah, Alexander, Mayatepek, Ertan, Seyfarth, Julia, Phillips, Richard O., and Jacobsen, Marc

Published
2023
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13. Plasma cytokine levels characterize disease pathogenesis and treatment response in tuberculosis patients

Author

Vivekanandan, Monika M., Adankwah, Ernest, Aniagyei, Wilfred, Acheampong, Isaac, Yeboah, Augustine, Arthur, Joseph F., Lamptey, Millicent N. K., Abass, Mohammed K., Gawusu, Amidu, Kumbel, Francis, Osei-Yeboah, Francis, Debrah, Linda Batsa, Owusu, Dorcas O., Debrah, Alexander, Mayatepek, Ertan, Seyfarth, Julia, Phillips, Richard O., and Jacobsen, Marc

Published
2023
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14. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Author

Reijnders, Margot R.F., Seibt, Annette, Brugger, Melanie, Lamers, Ideke J.C., Ott, Torsten, Klaas, Oliver, Horváth, Judit, Rose, Ailsa M.S., Craghill, Isabel M., Brunet, Theresa, Graf, Elisabeth, Mayerhanser, Katharina, Hellebrekers, Debby, Pauck, David, Neuen-Jacob, Eva, Rodenburg, Richard J.T., Wieczorek, Dagmar, Klee, Dirk, Mayatepek, Ertan, Driessen, Gertjan, Bindermann, Robert, Averdunk, Luisa, Lohmeier, Klaus, Sinnema, Margje, Stegmann, Alexander P.A., Roepman, Ronald, Poulter, James A., and Distelmaier, Felix

Published
2023
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15. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

Author

Averdunk, Luisa, Huetzen, Maxim A., Moreno-Andrés, Daniel, Kalb, Reinhard, McKee, Shane, Hsieh, Tzung-Chien, Seibt, Annette, Schouwink, Marten, Lalani, Seema, Faqeih, Eissa Ali, Brunet, Theresa, Boor, Peter, Neveling, Kornelia, Hoischen, Alexander, Hildebrandt, Barbara, Graf, Elisabeth, Lu, Linchao, Jin, Weidong, Schaper, Joerg, Omer, Jamal A., Demaret, Tanguy, Fleischer, Nicole, Schindler, Detlev, Krawitz, Peter, Mayatepek, Ertan, Wieczorek, Dagmar, Wang, Lisa L., Antonin, Wolfram, Jachimowicz, Ron D., von Felbert, Verena, and Distelmaier, Felix

Published
2023
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16. Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency

Author

Stindt, Jan, Dröge, Carola, Lainka, Elke, Kathemann, Simone, Pfister, Eva-Doreen, Baumann, Ulrich, Stalke, Amelie, Grabhorn, Enke, Shagrani, Mohammad Ali, Mozer-Glassberg, Yael, Hartley, Jane, Wammers, Marianne, Klindt, Caroline, Philippski, Paulina, Liebe, Roman, Herebian, Diran, Mayatepek, Ertan, Berg, Thomas, Schmidt-Choudhury, Anjona, Wiek, Constanze, Hanenberg, Helmut, Luedde, Tom, and Keitel, Verena

Published
2023
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18. Disorders of Eicosanoid Metabolism

Author

Mayatepek, Ertan, Blau, Nenad, editor, Dionisi Vici, Carlo, editor, Ferreira, Carlos R., editor, Vianey-Saban, Christine, editor, and van Karnebeek, Clara D. M., editor

Published
2022
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19. Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Author

Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia, Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie, Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan, Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan, Anikster, Yair, Distelmaier, Felix, and Saltiel, Alan

Subjects
GARNL1, RalA signaling, TULIP1, West syndrome, epilepsy, muscular hypotonia, neurodevelopmental disorder, Alleles, Cell Movement, Cell Proliferation, Child, Preschool, Family, Feeding and Eating Disorders, Female, GTPase-Activating Proteins, Humans, Infant, Male, Muscle Hypotonia, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Phenotype, Spasms, Infantile
Abstract

Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in RALA were also described as a cause of intellectual disability and developmental delay, indicating the relevance of this pathway to neuropediatric diseases. Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1) in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, and infantile spasms . Dysplasia of corpus callosum with focal thinning of the posterior part and characteristic facial features appeared to be unifying findings. RalGAPA1 was absent in the fibroblasts derived from two affected individuals suggesting a loss-of-function effect of the RALGAPA1 variants. Consequently, RalA activity was increased in these cell lines, which is in keeping with the idea that RalGAPA1 deficiency causes a constitutive activation of RalA. Additionally, levels of RalGAPB, a scaffolding subunit of the RalGAP complex, were dramatically reduced, indicating a dysfunctional RalGAP complex. Moreover, RalGAPA1 deficiency clearly increased cell-surface levels of lipid raft components in detached fibroblasts, which might indicate that anchorage-dependence of cell growth signaling is disturbed. Our findings indicate that the dysregulation of the RalA pathway has an important impact on neuronal function and brain development. In light of the partially overlapping phenotype between RALA- and RALGAPA1-associated diseases, it appears likely that dysregulation of the RalA signaling pathway leads to a distinct group of genetic syndromes that we suggest could be named RALopathies.

Published
2020

22. Hepatic bile acid accretion correlates with cholestatic liver injury and therapeutic response in Cyp2c70 knockout mice with a humanized bile acid composition.

Author

Klindt, Caroline, Truong, Jennifer K., Bennett, Ashley L., Pachura, Kimberly J., Herebian, Diran, Mayatepek, Ertan, Luedde, Tom, Ebert, Matthias, Karpen, Saul J., and Dawson, Paul A.

Subjects
FARNESOID X receptor, BILE acids, ORAL drug administration, CHENODEOXYCHOLIC acid, BIOMARKERS
Abstract

Cyp2c70 knockout (KO) mice lack the liver enzyme responsible for synthesis of 6-hydroxylated muricholate bile acid species and possess a more hydrophobic human-like bile acid composition. Cyp2c70 KO mice develop cholestatic liver injury that can be prevented by the administration of an ileal bile acid transporter (IBAT) inhibitor. In this study, we investigated the potential of an ileal bile acid transporter (IBAT) inhibitor (SC-435) and steroidal farnesoid X receptor (FXR) agonist (cilofexor) to modulate established hepatobiliary injury and the consequent relationship of intrahepatic bile acid content and hydrophobicity to the cholestatic liver injury phenotype. Oral administration of SC-435, cilofexor, or combined treatment for 2 wk markedly reduced serum markers of liver injury and improved histological and gene expression markers of fibrosis, liver inflammation, and ductular reaction in male and female Cyp2c70 KO mice, with the greatest benefit in the combination treatment group. The IBAT inhibitor and FXR agonist significantly reduced intrahepatic bile acid content but not hepatic bile acid pool hydrophobicity, and markers of liver injury were strongly correlated with intrahepatic total bile acid and taurochenodeoxycholic acid accretion. Biomarkers of liver injury increased linearly with similar hepatic thresholds for pathological accretion of hydrophobic bile acids in male and female Cyp2c70 KO mice. These findings further support targeting intrahepatic bile acid retention as a component of treatments for cholestatic liver disease. NEW & NOTEWORTHY: Bile acids are implicated as a common contributor to the pathogenesis and progression of cholestatic liver disease. Using a mouse model with a humanized bile acid composition, we demonstrated that mono and combination therapy using an IBAT inhibitor and FXR nonsteroidal agonist were effective at reducing hepatic bile acid accretion and reversing liver injury, without reducing hepatic bile acid hydrophobicity. The findings support the concept of a therapeutically tractable threshold for bile acid-induced liver injury. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Peripherally active dextromethorphan derivatives lower blood glucose levels by targeting pancreatic islets

Author

Scholz, Okka, Otter, Silke, Welters, Alena, Wörmeyer, Laura, Dolenšek, Jurij, Klemen, Maša Skelin, Pohorec, Viljem, Eberhard, Daniel, Mrugala, Jessica, Hamacher, Anna, Koch, Angela, Sanz, Miguel, Hoffmann, Torsten, Hogeback, Jens, Herebian, Diran, Klöcker, Nikolaj, Piechot, Alexander, Mayatepek, Ertan, Meissner, Thomas, Stožer, Andraž, and Lammert, Eckhard

Published
2021
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29. High common‐γ cytokine receptor levels promote expression of Interleukin‐2/Interleukin‐7 receptor α‐chains with implications on T‐cell differentiation and function.

Author

Kim, Ju‐Young, Mayatepek, Ertan, Seyfarth, Julia, and Jacobsen, Marc

Subjects
*TYPE 1 diabetes, *CYTOKINE receptors, *T cells, *HAIRPIN (Genetics), *AUTOIMMUNE diseases
Abstract

Cytokines of the common‐γ receptor chain (γc) family are crucial for T‐cell differentiation and dysregulation of γc cytokine pathways is involved in the pathogenesis of autoimmune diseases. There is increasing evidence that the availability of the γc receptor (CD132) for the associated receptor chains has implications for T‐cell functions. Here we studied the influence of differential γc expression on the expression of the IL‐2Rα (CD25), the IL‐7Rα (CD127) and the differentiation of activated naïve T cells. We fine‐tuned the regulation of γc expression in human primary naïve T cells by lentiviral transduction using small hairpin (sh)RNAs and γc cDNA. Differential γc levels were then analysed for effects on T‐cell phenotype and function after activation. Differential γc expression markedly affected IL‐2Rα and IL‐7Rα expression on activated naïve T cells. High γc expression (γc‐high) induced significantly higher expression of IL‐2Rα and re‐expression of IL‐7Rα after activation. Inhibition of γc caused lower IL‐2Rα/IL‐7Rα expression and impaired proliferation of activated naïve T cells. In contrast, γc‐high T cells secreted significantly higher concentrations of effector cytokines (i.e., IFN‐γ, IL‐6) and showed higher cytokine‐receptor induced STAT5 phosphorylation during initial stages as well as persistently higher pSTAT1 and pSTAT3 levels after activation. Finally, accelerated transition towards a CD45RO expressing effector/memory phenotype was seen especially for CD4+ γc‐high naïve T cells. These results suggested that high expression of γc promotes expression of IL‐2Rα and IL‐7Rα on activated naïve T cells with significant effects on differentiation and effector cytokine expression. [ABSTRACT FROM AUTHOR]

Published
2024
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31. BCG Vaccination-Associated Lower HbA1c and Increased CD25 Expression on CD8+ T Cells in Patients with Type 1 Diabetes in Ghana

Author

Aniagyei, Wilfred, primary, Mohayideen, Sumaya, additional, Sarfo-Kantanka, Osei, additional, Bittner, Sarah, additional, Vivekanandan, Monika M., additional, Arthur, Joseph F., additional, Boateng, Agnes O., additional, Yeboah, Augustine, additional, Ahor, Hubert S., additional, Asibey, Shadrack O., additional, Owusu, Elizabeth, additional, Herebian, Diran, additional, Huttasch, Maximilian, additional, Burkart, Volker, additional, Wagner, Robert, additional, Roden, Michael, additional, Adankwah, Ernest, additional, Owusu, Dorcas O., additional, Mayatepek, Ertan, additional, Jacobsen, Marc, additional, Phillips, Richard O., additional, and Seyfarth, Julia, additional

Published
2024
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33. Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure

Author

TN groep Hol, Brain, Lisowski, Pawel, Lickfett, Selene, Rybak-Wolf, Agnieszka, Menacho, Carmen, Le, Stephanie, Pentimalli, Tancredi Massimo, Notopoulou, Sofia, Dykstra, Werner, Oehler, Daniel, López-Calcerrada, Sandra, Mlody, Barbara, Otto, Maximilian, Wu, Haijia, Richter, Yasmin, Roth, Philipp, Anand, Ruchika, Kulka, Linda A.M., Meierhofer, David, Glazar, Petar, Legnini, Ivano, Telugu, Narasimha Swamy, Hahn, Tobias, Neuendorf, Nancy, Miller, Duncan C., Böddrich, Annett, Polzin, Amin, Mayatepek, Ertan, Diecke, Sebastian, Olzscha, Heidi, Kirstein, Janine, Ugalde, Cristina, Petrakis, Spyros, Cambridge, Sidney, Rajewsky, Nikolaus, Kühn, Ralf, Wanker, Erich E., Priller, Josef, Metzger, Jakob J., Prigione, Alessandro, TN groep Hol, Brain, Lisowski, Pawel, Lickfett, Selene, Rybak-Wolf, Agnieszka, Menacho, Carmen, Le, Stephanie, Pentimalli, Tancredi Massimo, Notopoulou, Sofia, Dykstra, Werner, Oehler, Daniel, López-Calcerrada, Sandra, Mlody, Barbara, Otto, Maximilian, Wu, Haijia, Richter, Yasmin, Roth, Philipp, Anand, Ruchika, Kulka, Linda A.M., Meierhofer, David, Glazar, Petar, Legnini, Ivano, Telugu, Narasimha Swamy, Hahn, Tobias, Neuendorf, Nancy, Miller, Duncan C., Böddrich, Annett, Polzin, Amin, Mayatepek, Ertan, Diecke, Sebastian, Olzscha, Heidi, Kirstein, Janine, Ugalde, Cristina, Petrakis, Spyros, Cambridge, Sidney, Rajewsky, Nikolaus, Kühn, Ralf, Wanker, Erich E., Priller, Josef, Metzger, Jakob J., and Prigione, Alessandro

Published
2024

34. Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

Author

Inak, Gizem, Rybak-Wolf, Agnieszka, Lisowski, Pawel, Pentimalli, Tancredi M., Jüttner, René, Glažar, Petar, Uppal, Karan, Bottani, Emanuela, Brunetti, Dario, Secker, Christopher, Zink, Annika, Meierhofer, David, Henke, Marie-Thérèse, Dey, Monishita, Ciptasari, Ummi, Mlody, Barbara, Hahn, Tobias, Berruezo-Llacuna, Maria, Karaiskos, Nikos, Di Virgilio, Michela, Mayr, Johannes A., Wortmann, Saskia B., Priller, Josef, Gotthardt, Michael, Jones, Dean P., Mayatepek, Ertan, Stenzel, Werner, Diecke, Sebastian, Kühn, Ralf, Wanker, Erich E., Rajewsky, Nikolaus, Schuelke, Markus, and Prigione, Alessandro

Published
2021
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37. Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.

Author

Distelmaier, Felix, Sezer, Abdullah, Helm, Christina, Waldmüller, Stephan, Seibt, Annette, Gangfuß, Andrea, Kölbel, Heike, Schara-Schmidt, Ulrike, Yuksel, Deniz, Talim, Beril, Mayatepek, Ertan, Nikolin, Stefan, Weis, Joachim, Roos, Andreas, and Haack, Tobias B

Subjects
LIFE sciences, BIOLOGICAL transport, NEMALINE myopathy, MUSCLE diseases, IMMOBILIZED proteins, INBORN errors of metabolism
Abstract

This article summarizes a study that explores the role of the PACSIN3 gene in a rare muscle disorder. The study focuses on two families with children who experience exercise intolerance and early fatigue. Genetic testing reveals that the children have loss-of-function variants in the PACSIN3 gene, which is involved in cytoskeleton organization and intracellular trafficking. The study suggests that PACSIN3 deficiency can cause a myopathy with elevated creatine kinase levels in children. Further research is needed to fully understand the mechanisms and implications of PACSIN3 deficiency in muscle function. [Extracted from the article]

Published
2024
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41. Ketogenic Diet Induces Anti-Tumorigenic Effects in Colorectal Cancer through Microbial Production of Stearate

Author

Tsenkova, Mina, primary, Brauer, Madita, additional, Kasakin, Marat, additional, Busi, Susheel Bhanu, additional, Schmoetten, Maryse, additional, Gaigneaux, Anthoula, additional, Pozdeev, Vitaly, additional, Meyers, Marianne, additional, Koncina, Eric, additional, Herebian, Diran, additional, Rodriguez, Fabien, additional, Cheung, Dean, additional, Schmitz, Martine, additional, de Nies, Laura, additional, Mayatepek, Ertan, additional, Haan, Serge, additional, de Beaufort, Carine, additional, Graas, Jérôme, additional, Cramer, Thorsten, additional, Linster, Carole L., additional, Wilmes, Paul, additional, and Letellier, Elisabeth, additional

Published
2023
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46. Somatic Development in Children with Congenital Heart Defects

Author

Kerst, Gunter, Vazquez-Jimenez, Jaime F., Gkalpakiotis, Dimitrios, Schedifka, Andrea, Buheitel, Gernot, Streble, Joachim, II, Kececioglu, Deniz, Sandica, Eugen, Trusen, Burkhard, Berger, Felix, Miera, Oliver, Ovroutski, Stanislav, Peters, Björn, Schmitt, Katharina, Schubert, Stephan, Photiadis, Joachim, Opgen-Rhein, Bernd, Weiss, Katja, Berns, Christoph, Blumenthal-Barby, Carl-Christian, Boeckel, Thomas, Krusche, Susanne, Busse, Jürgen, Kästner, Andreas, Koch, Heike, Köpcke, Christian, Streichan, Frank, Timme, Jens, Franzbach, Birgit, Senft, Gabriela, Beyer, Frank, Winter, Klaus, Breuer, Johannes, Welz, Armin, Bahlmann, Jens, Griese, Eberhard, Lê, Trong Phi, Hebe, Joachim, Nürnberg, Jan-Hendrik, Magsaam, Annette, Müller, Ronald, Potthoff, Ludger, Voigt, Renate, Krüger, Tim, Gerleve, Hubert, Kleideiter, Ulrich, Schneider-Kulla, Dirk, Feil, Elmo, Menke, Thomas, Lehn, Martin, Grohmann, Martina, Tomczak, Helge, Krogmann, Otto N., Tarusinov, Gleb, Scheld, Michael, Mayatepek, Ertan, Pillekamp, Frank, Lichtenberg, Artur, Terpeluk, Christiane, von Jan, Veronika, Dittrich, Sven, Gundlach, Ulrike, Cesnjevar, Robert, Neudorf, Ulrich, Morf, Geert, Esmaeili, Anoosh, Backhoff, Stephan, Stiller, Brigitte, Beyersdorf, Friedhelm, Kroll, Johannes, Wildberg, Anke, Siaplaouras, Jannos, Masri-Zada, Antje, Jux, Christian, Böning, Andreas, Akintürk, Hakan, Paul, Thomas, Tirilomis, Theodor, Schürer, Gabriele, Hartmann, Johannes, Grabitz, Ralph, Liebaug, Uta, Rotzsch, Claudius, Kozlik-Feldmann, Rainer, Sachweh, Jörg, Riso, Arlindo, Petersen, Volker, Friedrich, Bernd, Schlobohm, Otmar, Beerbaum, Philipp, Böthig, Dietmar, Horke, Alexander, Bauersachs, Johann, Westhoff-Bleck, Mechthild, Gorenflo, Matthias, Karck, Matthias, Loukanov, Tsvetomir, Sebening, Christian, Schrüfer, Hermann, Wilken, Martin, Abdul-Khaliq, Hashim, Rädle-Hurst, Tanja, Rentzsch, Axel, Schäfers, Hans-Joachim, Reichert, Hagen, Kriebel, Thomas, Boysen, Arnulf, Kramer, Hans-Heiner, Cremer, Joachim Thomas, Scheewe, Jens, Buchholz-Berdau, Regina, Möller, Peter, Ram, Wolfgang, Brockmeier, Konrad, Bennink, Gerardus B.W.E., Gillor, Alex, Niehues, Tim, Terhoeven, Peter, Leidig, Steffen, Dähnert, Ingo, Kinzel, Peter, Kostelka, Martin, Kändler, Liane, Bethge, Martin, Köster, Stefan, Schröder, Christoph, Karstedt, Jens, Seitz, Uwe, Kampmann, Christoph, Vahl, Christian-Friedrich, Stahl, Frank, Barth, Helmut, Müller-Scholden, Joachim, Ewert, Peter, Hager, Alfred, Kaemmerer, Harald, Nagdyman, Nicole, Schoetzau, Jörg, Tutarel, Oktay, Lange, Rüdiger, Haas, Nikolaus A., Hakami, Lale, Hauser, Michael, Roithmaier, Alexander, Kehl, Hans Gerd, Malec, Edward, Baumgartner, Helmut, Diller, Gerhard, Bahle, Roswitha, Hofner, Gerald, Zink, Stefan, Reif, Roland, Parlasca, Christoph, Freund, Matthias W., Schumacher, Michael, Darrelmann, Christine, Motz, Reinald, Willmann, Olaf, Schmiedl, Norbert, Quick, Peter, Hillebrand, Dirk, Hirsemann, Petra, Eiselt, Stephan Michele, Nekarda, Torsten, Eberhard, Michael, Schneider, Martin, Asfour, Boulos, Baier, Georg, Uhlemann, Frank, Scheid, Michael, Beyer, Alexander, Binz, Gudrun, Teufel, Thomas, Handke, Ronald-Peter, Hofbeck, Michael, Kaulitz, Renate, Sieverding, Ludger, Schlensak, Christian, Apitz, Christian, Kupferschmid, Christoph, Holtvogt, Jürgen, Wippermann, Carl-Friedrich, Heusch, Andreas, Wirbelauer, Johannes, Brosi, Wolfgang, Poryo, Martin, Paes, Laura Antonia, Pickardt, Thomas, Bauer, Ulrike M.M., Meyer, Sascha, and Wagenpfeil, Stefan

Published
2018
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47. Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

Author

Santosa, David, Donner, Markus G., vom Dahl, Stephan, Fleisch, Markus, Hoehn, Thomas, Mayatepek, Ertan, Heldt, Katrin, Niehues, Tim, Häussinger, Dieter, Baumgartner, Matthias, Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, and Zschocke, Johannes, Series editor

Published
2017
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