Search Results - "Steinlein, Ortrud"

Calcium signaling and epilepsy by Steinlein, Ortrud K

“…Calcium signaling is involved in a multitude of physiological and pathophysiological mechanisms. Over the last decade, it has been increasingly recognized as…”
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Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé Syndrome by Sattler, Elke C., Syunyaeva, Zulfiya, Mansmann, Ulrich, Steinlein, Ortrud K.

“…Birt-Hogg-Dubé syndrome (BHDS) is a genetic tumor syndrome characterized by lung cysts, spontaneous pneumothorax, fibrofolliculomas, and renal cell cancer…”
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Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome by Sattler, Elke C, Reithmair, Marlene, Steinlein, Ortrud K

“…Birt-Hogg-Dubé syndrome (BHDS) is a genetic tumor syndrome characterized by lung cysts, pneumothorax, fibrofolliculomas and renal cell cancer. The diagnosis of…”
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Colorectal cancer risk in families with Birt-Hogg-Dubé syndrome increased by Sattler, Elke C., Syunyaeva, Zulfiya, Reithmair, Marlene, Dempke, Wolfram, Steinlein, Ortrud K.

“…Birt-Hogg-Dubé syndrome (BHDS) is an inherited tumour syndrome characterised by three major symptoms: lung cysts with spontaneous pneumothorax,…”
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Ion Channel Mutations in Neuronal Diseases: A Genetics Perspective by Steinlein, Ortrud K

“…Steinlein provides a genetics perspective of ion channel mutations in neuronal diseases. Ion channels are important for various functions of the human brain…”
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Cellular and extracellular miRNAs are blood‐compartment‐specific diagnostic targets in sepsis by Reithmair, Marlene, Buschmann, Dominik, Märte, Melanie, Kirchner, Benedikt, Hagl, Daniel, Kaufmann, Ines, Pfob, Martina, Chouker, Alexander, Steinlein, Ortrud K., Pfaffl, Michael W., Schelling, Gustav

“…Septic shock is a common medical condition with a mortality approaching 50% where early diagnosis and treatment are of particular importance for patient…”
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Evaluation of serum extracellular vesicle isolation methods for profiling miRNAs by next-generation sequencing by Buschmann, Dominik, Kirchner, Benedikt, Hermann, Stefanie, Märte, Melanie, Wurmser, Christine, Brandes, Florian, Kotschote, Stefan, Bonin, Michael, Steinlein, Ortrud K., Pfaffl, Michael W., Schelling, Gustav, Reithmair, Marlene

“…Extracellular vesicles (EVs) are intercellular communicators with key functions in physiological and pathological processes and have recently garnered interest…”
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Genetic heterogeneity in familial nocturnal frontal lobe epilepsy by Steinlein, Ortrud K

“…Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was the first epilepsy in humans that could be linked to specific mutations. It had been initially…”
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Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3 by Korenke, Georg‐Christoph, Eggert, Marlene, Thiele, Holger, Nürnberg, Peter, Sander, Thomas, Steinlein, Ortrud K.

“…Summary Mutations in NPRL3, one of three genes that encode proteins of the mTORC1‐regulating GATOR1 complex, have recently been reported to cause cortical…”
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Anesthetic‑specific lncRNA and mRNA profile changes in blood during colorectal cancer resection: A prospective, matched‑case pilot study by Lindemann, Anja, Brandes, Florian, Borrmann, Melanie, Meidert, Agnes S, Kirchner, Benedikt, Steinlein, Ortrud K, Schelling, Gustav, Pfaffl, Michael W, Reithmair, Marlene

“…Prometastatic and antitumor effects of different anesthetics have been previously analyzed in several studies with conflicting results. Thus, the underlying…”
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Genetic mechanisms that underlie epilepsy by Steinlein, Ortrud K

“…Genetic factors can cause recurrent abnormal synchronization and episodic hyperexcitability of neuronal networks through various mechanisms. Many of the genes…”
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Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype by Knierim, Ellen, Vogt, Johannes, Kintscher, Michael, Ponomarenko, Alexey, Baumgart, Jan, Beed, Prateep, Korotkova, Tatiana, Trimbuch, Thorsten, Panzer, Axel, Steinlein, Ortrud K, Stephani, Ulrich, Escayg, Andrew, Koko, Mahmoud, Liu, Yuanyuan, Lerche, Holger, Schmitz, Dietmar, Nitsch, Robert, Schuelke, Markus

“…Abstract The Phospholipid Phosphatase Related 4 gene (PLPPR4,  *607813) encodes the Plasticity-Related-Gene-1 (PRG-1) protein. This cerebral synaptic…”
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Mechanisms underlying epilepsies associated with sodium channel mutations by Steinlein, Ortrud K

“…Voltage-gated sodium channels provide the molecular basis for the generation and propagation of action potentials. It is therefore not surprising that…”
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Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein by Laviolette, Laura A., Mermoud, Julien, Calvo, Isabel A., Olson, Nicholas, Boukhali, Myriam, Steinlein, Ortrud K., Roider, Elisabeth, Sattler, Elke C., Huang, Dachuan, Teh, Bin Tean, Motamedi, Mo, Haas, Wilhelm, Iliopoulos, Othon

“…Germline mutations in the Folliculin ( FLCN ) tumour suppressor gene result in fibrofolliculomas, lung cysts and renal cancers, but the precise mechanisms of…”
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Nicotinic receptor channelopathies and epilepsy by Steinlein, Ortrud K., Bertrand, Daniel

“…Characterized by sudden episodes called seizures, epilepsy was recognized long ago as a neurological disorder that can have multiple forms ranging from benign…”
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Extracellular vesicles secreted by 3D tumor organoids are enriched for immune regulatory signaling biomolecules compared to conventional 2D glioblastoma cell systems by Schuster, Martina, Braun, Frank K, Chiang, Dapi Meng-Lin, Ludwig, Christina, Meng, Chen, Grätz, Christian, Kirchner, Benedikt, Proescholdt, Martin, Hau, Peter, Steinlein, Ortrud K, Pfaffl, Michael W, Riemenschneider, Markus J, Reithmair, Marlene

“…Newer 3D culturing approaches are a promising way to better mimic the tumor microenvironment and to study the interactions between the heterogeneous cell…”
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Risk of pneumothorax in Birt-Hogg-Dubé syndrome during pregnancy and birth by Steinlein, Ortrud K., Reithmair, Marlene, Syunyaeva, Zulfiya, Sattler, Elke C.

“…Birt-Hogg-Dubé syndrome (BHDS) is a genetic disorder characterized by fibrofolliculomas, renal cell cancer and lung cysts. Patients are at risk to develop…”
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Update of penetrance estimates in Birt-Hogg-Dubé syndrome by Bruinsma, Fiona Jane, Dowty, James G, Win, Aung Ko, Goddard, Laura C, Agrawal, Prachi, Attina', Domenico, Bissada, Nabil, De Luise, Monica, Eisen, Daniel B, Furuya, Mitsuko, Gasparre, Giuseppe, Genuardi, Maurizio, Gerdes, Anne-Marie, Hansen, Thomas Van Overeem, Houweling, Arjan C, Johannesma, Paul Christiaan, Lencastre, André, Lim, Derek, Lindor, Noralane M, Luzzi, Valentina, Lynch, Maeve, Maffé, Antonella, Menko, Fred H, Michels, Guido, Pulido, Jose S, Ryu, Jay H, Sattler, Elke C, Steinlein, Ortrud K, Tomassetti, Sara, Tucker, Kathy, Turchetti, Daniela, van de Beek, Irma, van Riel, Lore, van Steensel, Maurice, Zenone, Thierry, Zompatori, Maurizo, Walsh, Jennifer, Bondavalli, Davide, Maher, Eamonn R, Winship, Ingrid M

“…Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants in the gene. Patients with BHD syndrome…”
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Delayed diagnosis of Birt-Hogg-Dubé syndrome might be aggravated by gender bias by Steinlein, Ortrud K., Reithmair, Marlene, Syunyaeva, Zulfiya, Sattler, Elke C.

“…Birt-Hogg-Dubé syndrome is a rare genetic tumor syndrome characterized by renal cell cancer, lung bullae, pneumothorax, and fibrofolliculoma. Patients with…”
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DICER1 syndrome can mimic different genetic tumor predispositions by Mehraein, Yasmin, Schmid, Irene, Eggert, Marlene, Kohlhase, Jürgen, Steinlein, Ortrud K

“…Highlights • Pleuropulmonary blastoma is regarded as a typical manifestation of DICER1 syndrome. • DICER1 syndrome can mimic different genetic tumor…”
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