Search Results - "Rzonca, Sylwia"

Destabilization of mutated human PUS3 protein causes intellectual disability by Lin, Ting‐Yu, Smigiel, Robert, Kuzniewska, Bozena, Chmielewska, Joanna J., Kosińska, Joanna, Biela, Mateusz, Biela, Anna, Kościelniak, Anna, Dobosz, Dominika, Laczmanska, Izabela, Chramiec‐Głąbik, Andrzej, Jeżowski, Jakub, Nowak, Jakub, Gos, Monika, Rzonca‐Niewczas, Sylwia, Dziembowska, Magdalena, Ploski, Rafał, Glatt, Sebastian

“…Pseudouridine (Ψ) is an RNA base modification ubiquitously found in many types of RNAs. In humans, the isomerization of uridine is catalyzed by different…”
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Rosiglitazone Induces Decreases in Bone Mass and Strength that Are Reminiscent of Aged Bone by Lazarenko, Oxana P, Rzonca, Sylwia O, Hogue, William R, Swain, Frances L, Suva, Larry J, Lecka-Czernik, Beata

“…Peroxisome proliferator-activated receptor-γ (PPARγ) regulates both glucose metabolism and bone mass. Recent evidence suggests that the therapeutic modulation…”
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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features by Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M, Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y, Oegema, Renske, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmüller, Janine, Krause, Roland, May, Patrick, Becker, Felicitas, Balling, Rudi, Biskup, Saskia, Haas, Stefan A, Nürnberg, Peter, van Gassen, Koen L I, Lerche, Holger, Zara, Federico, Maljevic, Snezana, Leshinsky-Silver, Esther

“…Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of…”
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FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis by Piard, Juliette, Hu, Jia-Hua, Campeau, Philippe M, Rzońca, Sylwia, Van Esch, Hilde, Vincent, Elizabeth, Han, Mei, Rossignol, Elsa, Castaneda, Jennifer, Chelly, Jamel, Skinner, Cindy, Kalscheuer, Vera M, Wang, Ruihua, Lemyre, Emmanuelle, Kosińska, Joanna, Stawinski, Piotr, Bal, Jerzy, Hoffman, Dax A, Schwartz, Charles E, Van Maldergem, Lionel, Wang, Tao, Worley, Paul F

“…Abstract FRMPD4 (FERM and PDZ Domain Containing 4) is a neural scaffolding protein that interacts with PSD-95 to positively regulate dendritic spine…”
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Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab by Rzońca, Sylwia Olimpia, Gos, Monika, Szopa, Daniel, Sielska-Rotblum, Danuta, Landowska, Aleksandra, Szpecht-Potocka, Agnieszka, Milewski, Michał, Czekajska, Jolanta, Abramowicz, Anna, Obersztyn, Ewa, Maciejko, Dorota, Mazurczak, Tadeusz, Bal, Jerzy

“…The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular…”
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A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy by Oswiecimska, Joanna, Dawidziuk, Mateusz, Gambin, Tomasz, Ziora, Katarzyna, Marek, Marta, Rzonca, Sylwia, Guilbride, D. Lys, Jhangiani, Shalini N., Obuchowicz, Anna, Sikora, Alicja, Lupski, James R., Wiszniewski, Wojciech, Gawlinski, Pawel

“…Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously…”
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Netoglitazone is a PPAR-gamma ligand with selective effects on bone and fat by Lazarenko, Oxana P., Rzonca, Sylwia O., Suva, Larry J., Lecka-Czernik, Beata

“…Thiazolidinediones are effective anti-diabetic drugs that improve insulin sensitivity through the activation of the nuclear receptor and adipocyte-specific…”
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The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model by Zayat, Valery, Kuczynska, Zuzanna, Liput, Michal, Metin, Erkan, Rzonca-Niewczas, Sylwia, Smyk, Marta, Mazurczak, Tomasz, Goszczanska-Ciuchta, Alicja, Leszczynski, Pawel, Hoffman-Zacharska, Dorota, Buzanska, Leonora

“…Dravet syndrome (DRVT) is a rare form of neurodevelopmental disorder with a high risk of sudden unexpected death in epilepsy (SUDEP), caused mainly (>80%…”
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Soluble TNF-α Receptor I Encoded on Plasmid Vector and Its Application in Experimental Gene Therapy of Radiation-Induced Lung Fibrosis by Przybyszewska, Małgorzata, Miłoszewska, Joanna, Rzońca, Sylwia, Trembacz, Halina, Pyśniak, Kazimiera, Kotlarz, Agnieszka, Swoboda, Paweł, Zalewska, Marta, Małecki, Maciej

“…Post-radiation inflammatory reaction leads to an irreversible pulmonary fibrosis which may cause lethal respiratory insufficiency. Pathological inflammatory…”
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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants by Leonardi, Emanuela, Aspromonte, Maria Cristina, Drongitis, Denise, Bettella, Elisa, Verrillo, Lucia, Polli, Roberta, McEntagart, Meriel, Licchetta, Laura, Dilena, Robertino, D'Arrigo, Stefano, Ciaccio, Claudia, Esposito, Silvia, Leuzzi, Vincenzo, Torella, Annalaura, Baldo, Demetrio, Lonardo, Fortunato, Bonato, Giulia, Pellegrin, Serena, Stanzial, Franco, Posmyk, Renata, Kaczorowska, Ewa, Carecchio, Miryam, Gos, Monika, Rzońca-Niewczas, Sylwia, Miano, Maria Giuseppina, Murgia, Alessandra

“…Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders…”
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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings by Wertheim-Tysarowska, Katarzyna, Osipowicz, Katarzyna, Woźniak, Katarzyna, Sawicka, Justyna, Mika, Adrianna, Kutkowska-Kaźmierczak, Anna, Niepokój, Katarzyna, SobczyÅska-Tomaszewska, Agnieszka, Wawrzycki, BartÅomiej, Pietrzak, Aldona, Åmigiel, Robert, WojtaÅ, Bartosz, Gielniewski, BartÅomiej, Szabelska-Beresewicz, Alicja, Zyprych-Walczak, Joanna, Rygiel, Agnieszka Magdalena, Domaszewicz, Alicja, Braun-Walicka, Natalia, Grabarczyk, Alicja, RzoÅca-Niewczas, Sylwia, Lidia, Ruszkowska, Dawidziuk, Mateusz, DomaÅski, Dominik, Gambin, Tomasz, Jackiewicz, Monika, Duk, Katarzyna, Dorożko, Barbara, Szczygielski, Orest, KrzeÅniak, Natalia, Noszczyk, BartÅomiej H, Obersztyn, Ewa, Wierzba, Jolanta, Barczyk, Artur, Castaneda, Jennifer, Eckersdorf-Mastalerz, Anna, Jakubiuk-Tomaszuk, Anna, WÅasienko, PaweÅ, Jaszczuk, Ilona, Jezela-Stanek, Aleksandra, Klapecki, Jakub, van Geel, Michel, Kowalewski, Cezary, Bal, Jerzy, GostyÅski, Antoni

“…The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or…”
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Proapoptotic gene therapy and chemosensitivity of cancer cells by Rzonca, Sylwia, Malecki, Maciej

“…According to the data for the year 2008, 65.2% of all gene therapy protocols concern cancer diseases. Transfer of therapeutic genes are attempted for…”
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Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy by Oswiecimska, Joanna, Dawidziuk, Mateusz, Gambin, Tomasz, Ziora, Katarzyna, Marek, Marta, Rzonca, Sylwia, Guilbride, D. Lys, Jhangiani, Shalini N., Obuchowicz, Anna, Sikora, Alicja, Lupski, James R., Wiszniewski, Wojciech, Gawlinski, Pawel

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WDR13 : A Novel Gene Implicated in Non-Syndromic Intellectual Disability by Rzońca-Niewczas, Sylwia, Wierzba, Jolanta, Kaczorowska, Ewa, Poryszewska, Milena, Kosińska, Joanna, Stawiński, Piotr, Płoski, Rafał, Bal, Jerzy

“…Investigating novel genetic variants involved in intellectual disability (ID) development is essential. X-linked intellectual disability (XLID) accounts for…”
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Soluble TNF- Delta a Receptor I Encoded on Plasmid Vector and Its Application in Experimental Gene Therapy of Radiation-Induced Lung Fibrosis by Przybyszewska, Malgorzata, Miloszewska, Joanna, Rzonca, Sylwia, Trembacz, Halina, Pysniak, Kazimiera, Kotlarz, Agnieszka, Swoboda, Pawel, Zalewska, Marta, Malecki, Maciej

“…Post-radiation inflammatory reaction leads to an irreversible pulmonary fibrosis which may cause lethal respiratory insufficiency. Pathological inflammatory…”
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Zespół łamliwego Chromosomu X i Choroby FMR1-zależne - Postępowanie Diagnostyczne Na Podstawie Doświadczeń własnych by Landowska, Aleksandra, Rzońca, Sylwia, Bal, Jerzy, Gos, Monika

“…Obecność mutacji dynamicznej w genie FMR1 zlokalizowanym na chromosomie X (Xq28) stanowi główną przyczynę wystąpienia zespołu łamliwego chromosomu X. Ze…”
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Zespół łamliwego Chromosomu x i Choroby FMR1-zależne - Objawy Kliniczne, Epidemiologia i Podłoże Molekularne Choroby by Landowska, Aleksandra, Rzońca, Sylwia, Bal, Jerzy, Gos, Monika

“…Zespół łamliwego chromosomu X (ang. Fragile X Syndrome, FXS) jest, po zespole Downa, najczęstszą dziedziczną przyczyną niepełnosprawności intelektualnej (NI)…”
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Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience . by Landowska, Aleksandra, Rzońca, Sylwia, Bal, Jerzy, Gos, Monika

“…The presence of dynamic mutation in the FMR1 gene localized on the X chromosome (Xq28) is the major cause of Fragile X syndrome. As this syndrome is quite…”
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Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background by Landowska, Aleksandra, Rzońca, Sylwia, Bal, Jerzy, Gos, Monika

“…Fragile X syndrome (FXS) is the second most common inherited cause of intellectual disability (ID), after Down syndrome. The severity of ID in FXS patients…”
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The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981) by Dawidziuk, Mateusz, Kutkowska-Kaźmierczak, Anna, Gawliński, Paweł, Wiszniewski, Wojciech, Gos, Monika, Stawiński, Piotr, Rydzanicz, Małgorzata, Kosińska, Joanna, Własienko, Paweł, Malinowska Kordowska, Olga, Bartnik-Głaska, Magdalena, Bernaciak, Joanna, Szczałuba, Krzysztof, Bekiesińska-Figatowska, Monika, Płoski, Rafał, Bal, Jerzy, Olimpia Rzońca-Niewczas, Sylwia

“…The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene,…”
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