Search Results - "Vlckova, Markéta"

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia by Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, Maria, Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, Rolph, Falk, Marni J., McCormick, Elizabeth M., Timmers, H.T. Marc, van Hasselt, Peter M.

“…The RNA polymerase II complex (pol II) is responsible for transcription of all ∼21,000 human protein-encoding genes. Here, we describe sixteen individuals…”
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The impact of sharing a home with a pet on the physiological state of the human microbiome: a comprehensive study on the Czech population with a focus on filamentous fungi by Wipler, Jan, Čermáková, Zuzana, Buchta, Vladimír, Žák, Pavel, Vlčková, Markéta

“…Czechs commonly share their homes with pet animals. However, the likelihood of transmission of filamentous fungi (FF) between the pet and the owner is not well…”
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A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy by Sedláčková, Lucie, Štěrbová, Katalin, Vlčková, Markéta, Maulisová, Alice, Laššuthová, Petra

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Determination of cationic neurotransmitters and metabolites in brain homogenates by microchip electrophoresis and carbon nanotube-modified amperometry by Vlčková, Markéta, Schwarz, Maria A.

“…An electrophoretic method for simultaneous determination of catecholamines and their O-methoxylated metabolites on the microchip as well as in the capillary is…”
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Pharmaceutical applications of isoelectric focusing on microchip with imaged UV detection by Vlčková, Markéta, Kalman, Franka, Schwarz, Maria A.

“…For the first time, the application of a commercial Shimadzu microchip electrophoresis system MCE-2010 equipped with an imaging UV detector for isoelectric…”
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Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life by Staněk, David, Laššuthová, Petra, Štěrbová, Katalin, Vlčková, Markéta, Neupauerová, Jana, Krůtová, Marcela, Seeman, Pavel

“…Epilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology. In…”
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Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant by Sedláčková, Lucie, Laššuthová, Petra, Štěrbová, Katalin, Vlčková, Markéta, Kudr, Martin, Buksakowska, Irena, Staněk, David, Seeman, Pavel

“…Biallelic variants in the SLC1A4 gene have been so far identified as a very rare cause of neurodevelopmental disorders with or without epilepsy and almost…”
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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 by Happ, Hannah C., Sadleir, Lynette G., Zemel, Matthew, de Valles-Ibáñez, Guillem, Hildebrand, Michael S., McConkie-Rosell, Allyn, McDonald, Marie, May, Halie, Sands, Tristan, Aggarwal, Vimla, Elder, Christopher, Feyma, Timothy, Bayat, Allan, Møller, Rikke S., Fenger, Christina D., Klint Nielsen, Jens Erik, Datta, Anita N., Gorman, Kathleen M., King, Mary D., Linhares, Natalia D., Burton, Barbara K., Paras, Andrea, Ellard, Sian, Rankin, Julia, Shukla, Anju, Majethia, Purvi, Olson, Rory J., Muthusamy, Karthik, Schimmenti, Lisa A., Starnes, Keith, Sedláčková, Lucie, Štěrbová, Katalin, Vlčková, Markéta, Laššuthová, Petra, Jahodová, Alena, Porter, Brenda E., Couque, Nathalie, Colin, Estelle, Prouteau, Clément, Collet, Corinne, Smol, Thomas, Caumes, Roseline, Vansenne, Fleur, Bisulli, Francesca, Licchetta, Laura, Person, Richard, Torti, Erin, McWalter, Kirsty, Webster, Richard, Gerard, Elizabeth E., Lesca, Gaetan, Szepetowski, Pierre, Scheffer, Ingrid E., Mefford, Heather C., Carvill, Gemma L.

“…encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo…”
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy by Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

“…The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of…”
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Technological relatedness, knowledge space and smart specialisation: The case of Germany by Vlčková, Jana, Kaspříková, Nikola, Vlčková, Markéta

“…The level of technological specialisation in the regions of Germany is assessed in this paper, as well as how such specialisation has evolved over time…”
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Identification of likely associations between cerebral folate deficiency and complex genetic‐ and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach by Krsička, Daniel, Geryk, Jan, Vlčková, Markéta, Havlovicová, Markéta, Macek, Milan, Pourová, Radka

“…Recently, cerebral folate deficiency (CFD) was suggested to be involved in the pathogenesis of autism spectrum disorders (ASD). However, the exact role of…”
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome by Cordeddu, Viviana, Yin, Jiani C., Gunnarsson, Cecilia, Virtanen, Carl, Drunat, Séverine, Lepri, Francesca, De Luca, Alessandro, Rossi, Cesare, Ciolfi, Andrea, Pugh, Trevor J., Bruselles, Alessandro, Priest, James R., Pennacchio, Len A., Lu, Zhibin, Danesh, Arnavaz, Quevedo, Rene, Hamid, Alaa, Martinelli, Simone, Pantaleoni, Francesca, Gnazzo, Maria, Daniele, Paola, Lissewski, Christina, Bocchinfuso, Gianfranco, Stella, Lorenzo, Odent, Sylvie, Philip, Nicole, Faivre, Laurence, Vlckova, Marketa, Seemanova, Eva, Digilio, Cristina, Zenker, Martin, Zampino, Giuseppe, Verloes, Alain, Dallapiccola, Bruno, Roberts, Amy E., Cavé, Hélène, Gelb, Bruce D., Neel, Benjamin G., Tartaglia, Marco

“…ABSTRACT The RASopathies constitute a family of autosomal‐dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced…”
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COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria by Straka, Barbora, Vlčková, Markéta, Libá, Zuzana, Heřmanovská, Barbora, Kynčl, Martin, Dorňáková, Jana, Táborský, Jakub, Kršek, Pavel, Musilová, Alena, Janota, Jan, Balaščaková, Miroslava

“…Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with…”
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Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome by Sumerauer, David, Krskova, Lenka, Vicha, Ales, Misove, Adela, Mamatjan, Yasin, Jencova, Pavla, Vlckova, Marketa, Slamova, Lucie, Vanova, Katerina, Liby, Petr, Taborsky, Jakub, Koblizek, Miroslav, Klubal, Radek, Kyncl, Martin, Zadeh, Gelareh, Stary, Jan, Zamecnik, Josef, Ramaswamy, Vijay, Zapotocky, Michal

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A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy by Straka, Barbora, Koblížek, Miroslav, Splítková, Barbora, Valkovičová, Radka, Krsková, Lenka, Kalinová, Markéta, Vlčková, Markéta, Zámečník, Josef, Laššuthová, Petra, Sedláčková, Lucie, Staněk, David, Maulisová, Alice, Tichý, Michal, Kynčl, Martin, Kršek, Pavel

“…Focal cortical dysplasia (FCD) represents the most common cause of drug-resistant epilepsy in adult and pediatric surgical series. However, genetic factors…”
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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment by Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

“…NKAP is a ubiquitously expressed nucleoplasmic protein that is currently known as a transcriptional regulatory molecule via its interaction with HDAC3 and…”
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The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis by Geryk, Jan, Krsička, Daniel, Vlčková, Markéta, Havlovicová, Markéta, Macek, Jr, Milan, Kremlíková Pourová, Radka

“…Folate deficiency in the critical developmental period has been repeatedly associated with an increased risk of Autism spectrum disorders (ASD), but the key…”
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A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation by Vlckova, Marketa, Prchalova, Darina, Zimmermann, Pavel, Haberlova, Jana, Bendova, Sarka, Moslerova, Veronika, Stranecky, Viktor, Sedlacek, Zdenek, Hancarova, Miroslava

“…Background Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. CMS…”
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Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy by Neupauerová, Jana, Štěrbová, Katalin, Vlčková, Markéta, Sebroňová, Věra, Maříková, Tat'ána, Krůtová, Marcela, David, Staněk, Kršek, Pavel, Žaliová, Markéta, Seeman, Pavel, Laššuthová, Petra

“…Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically associated with early infantile epileptic…”
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A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people by Plevova, Pavlina, Indrakova, Jana, Savige, Judy, Kuhnova, Petra, Tvrda, Petra, Cerna, Dita, Hilscherova, Sarka, Kudrejova, Monika, Polendova, Daniela, Jaklova, Radka, Langova, Martina, Jahnova, Helena, Lastuvkova, Jana, Dusek, Jiri, Gut, Josef, Vlckova, Marketa, Solarova, Pavla, Kreckova, Gabriela, Kantorova, Eva, Soukalova, Jana, Slavkovsky, Rastislav, Zapletalova, Jana, Tichy, Tomas, Thomasova, Dana

“…Romani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the , and genes that are affected in…”
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