Exome sequencing in Nigerian children with early‐onset epilepsy syndromes

Authors: Ibitayo Abigail Ademuwagun, Yagoub Adam, Solomon Oladapo Rotimi, Steffen Syrbe, Maximilian Radtke, Julia Hentschel, Johannes R. Lemke, Ezekiel Adebiyi

Source: Epilepsia Open, Vol 10, Iss 1, Pp 222-232 (2025)

Subject Terms: developmental and epileptic encephalopathies, genetic variants, Nigeria, personalized medicine, whole‐exome studies, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2470-9239

Access URL: https://doaj.org/article/12f87c0086914c4ca48aefa29a4b7042

altAFplotter: a web app for reliable UPD detection in NGS diagnostics

Authors: Maximilian Radtke, Johanna Moch, Julia Hentschel, Isabell Schumann

Source: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-5 (2024)

Subject Terms: UPD, UPD-detection, AltAFplotter, NGS-diagnostics, Isodisomy, Heterodisomy, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2105

Access URL: https://doaj.org/article/039ff80e968b4cf7bd0151a0cafccebf

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

Authors: Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H. Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: uniparental disomy, allele frequency, imprinting, gene regulation, next-generation-sequencing, methylome, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1297754/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/6f91e1c8d10044629367c57e8319a75c

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Authors: Christopher Hakkaart, John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes, Bridget A. Robinson, Peter D. Mace, Kristiina Aittomäki, Irene L. Andrulis, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Sami Belhadj, Lieke Berger, Marinus J. Blok, Susanne E. Boonen, Julika Borde, Angela R. Bradbury, Joan Brunet, Saundra S. Buys, Maria A. Caligo, Ian Campbell, Wendy K. Chung, Kathleen B. M. Claes, GEMO Study Collaborators, EMBRACE Collaborators, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J. Couch, Mary B. Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Alan Donaldson, Jacqueline Eason, Douglas F. Easton, Hans Ehrencrona, Christoph Engel, D. Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A. Gayther, Andrea Gehrig, Paul Gesta, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Eric Hahnen, Christopher R. Hake, Ute Hamann, Thomas V. O. Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J. Hulick, Evgeny N. Imyanitov, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L. Mai, Siranoush Manoukian, Véronique Mari, John W. M. Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C. Rodriguez, Karina Rønlund, Efraim H. Rosenberg, Maria Rossing, Rita K. Schmutzler, Payal D. Shah, Saba Sharif, Priyanka Sharma, Lucy E. Side, Jacques Simard, Christian F. Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Mads Thomassen, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Alison H. Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J. van Rensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N. Weitzel, Marike R. Wevers, Georgia Chenevix-Trench, Amanda B. Spurdle, Antonis C. Antoniou, Logan C. Walker

Source: Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2399-3642

Access URL: https://doaj.org/article/2008d12983b5437282b0bdff8c8a6bb0

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

Authors: Marek B. Körner, Akhil Velluva, Linnaeus Bundalian, Maximilian Radtke, Chen-Ching Lin, Pia Zacher, Tobias Bartolomaeus, Anna S. Kirstein, Achmed Mrestani, Nicole Scholz, Konrad Platzer, Anne-Christin Teichmann, Julia Hentschel, Tobias Langenhan, Johannes R. Lemke, Antje Garten, Rami Abou Jamra, Diana Le Duc

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/f0c825a9e8ef41399622f3cfb955f5f9

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

Authors: Julika Borde, Yael Laitman, Britta Blümcke, Dieter Niederacher, Konstantin Weber-Lassalle, Christian Sutter, Andreas Rump, Norbert Arnold, Shan Wang-Gohrke, Judit Horváth, Andrea Gehrig, Gunnar Schmidt, Véronique Dutrannoy, Juliane Ramser, Julia Hentschel, Alfons Meindl, Christopher Schroeder, Barbara Wappenschmidt, Christoph Engel, Karoline Kuchenbaecker, Rita K. Schmutzler, Eitan Friedman, Eric Hahnen, Corinna Ernst

Source: BMC Cancer, Vol 22, Iss 1, Pp 1-9 (2022)

Subject Terms: Breast cancer, Polygenic risk score, PRS, Risk assessment, BRCA1, BRCA2, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2407

Access URL: https://doaj.org/article/d015c012069441ee82eb7df529d64307

The Posttraumatic Increase of the Adhesion GPCR EMR2/ADGRE2 on Circulating Neutrophils Is Not Related to Injury Severity

Authors: Leyu Zheng, Moujie Rang, Carolin Fuchs, Annette Keß, Mandy Wunsch, Julia Hentschel, Cheng-Chih Hsiao, Christian Kleber, Georg Osterhoff, Gabriela Aust

Source: Cells, Vol 12, Iss 22, p 2657 (2023)

Subject Terms: EMR2, adhesion G-protein coupled receptor, neutrophils, polytrauma, DAMP, severe injured patient, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/22/2657; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/294a328a25f94cbca16c7587419d905f

Divergent dynamics of inflammatory mediators and multiplex PCRs during airway infection in cystic fibrosis patients and healthy controls: Serial upper airway sampling by nasal lavage

Authors: Nina Erdmann, Theresa Schilling, Julia Hentschel, Thomas Lehmann, Philipp von Bismarck, Tobias Ankermann, Franziska Duckstein, Michael Baier, Carlos Zagoya, Jochen G. Mainz

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: cystic fibrosis, interleukin, metalloproteinase, neutrophilic elastase, Pseudomonas aeruginosa, nasal lavage, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.947359/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/6c849df7704e4e46b11e0d5daf61a42f

Ivacaftor Reduces Inflammatory Mediators in Upper Airway Lining Fluid From Cystic Fibrosis Patients With a G551D Mutation: Serial Non-Invasive Home-Based Collection of Upper Airway Lining Fluid

Authors: Jochen G. Mainz, Christin Arnold, Kara Wittstock, Uta-Christina Hipler, Thomas Lehmann, Carlos Zagoya, Franziska Duckstein, Helmut Ellemunter, Julia Hentschel

Source: Frontiers in Immunology, Vol 12 (2021)

Subject Terms: cystic fibrosis, CFTR, modulation, inflammation, sampling, cytokines, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.642180/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/26142fae98294a3784e6ff40faf9c3e1

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Authors: Jan Hauke, Judit Horvath, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang‐Gohrke, Mateja Smogavec, Bernhard H. F. Weber, Nana Weber‐Lassalle, Konstantin Weber‐Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E. Volk, Holger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, Natalie Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Ruckert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

Source: Cancer Medicine, Vol 7, Iss 4, Pp 1349-1358 (2018)

Subject Terms: Breast cancer predisposition, hereditary breast cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/2045-7634

Access URL: https://doaj.org/article/ef20fad57668492e8e5c076a0c75dc32

A parametric approach for the valuation of power plant flexibility options

Authors: Julia Hentschel, Ugljes˘a Babić, Hartmut Spliethoff

Source: Energy Reports, Vol 2, Iss C, Pp 40-47 (2016)

Subject Terms: Power plant flexibility, Valuation tool, Power plant costs, Flexibility options, Electrical engineering. Electronics. Nuclear engineering, TK1-9971

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352484716300075; https://doaj.org/toc/2352-4847

Access URL: https://doaj.org/article/4abd810c4101481a9100b7f8ac82721d

Changes of Proteases, Antiproteases, and Pathogens in Cystic Fibrosis Patients’ Upper and Lower Airways after IV-Antibiotic Therapy

Authors: Ulrike Müller, Julia Hentschel, Wibke K. Janhsen, Kerstin Hünniger, Uta-Christina Hipler, Jürgen Sonnemann, Wolfgang Pfister, Klas Böer, Thomas Lehmann, Jochen G. Mainz

Source: Mediators of Inflammation, Vol 2015 (2015)

Subject Terms: Pathology, RB1-214

File Description: electronic resource

Relation: https://doaj.org/toc/0962-9351; https://doaj.org/toc/1466-1861

Access URL: https://doaj.org/article/06e6cd127a364018a6c04e9f82828530

Pseudomonas aeruginosa Acquisition in Cystic Fibrosis Patients in Context of Otorhinolaryngological Surgery or Dentist Attendance: Case Series and Discussion of Preventive Concepts

Authors: Jochen G. Mainz, Andrea Gerber, Michael Lorenz, Ruth Michl, Julia Hentschel, Anika Nader, James F. Beck, Mathias W. Pletz, Andreas H. Mueller

Source: Case Reports in Infectious Diseases, Vol 2015 (2015)

Subject Terms: Infectious and parasitic diseases, RC109-216

File Description: electronic resource

Relation: https://doaj.org/toc/2090-6625; https://doaj.org/toc/2090-6633

Access URL: https://doaj.org/article/7f9d92114bb240f0af8537fbf2f563a2

Reduced nasal nitric oxide production in cystic fibrosis patients with elevated systemic inflammation markers.

Authors: Ruth K Michl, Julia Hentschel, Christiane Fischer, James F Beck, Jochen G Mainz

Source: PLoS ONE, Vol 8, Iss 11, p e79141 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3827333?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/07f6346ed161401c831cd03dee701b6f

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