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34 results on '"Kaczorowska, Ewa"'

2. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Author

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, and Murgia, Alessandra

Published
2023
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8. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Author

Leonardi, Emanuela, primary, Aspromonte, Maria Cristina, additional, Drongitis, Denise, additional, Bettella, Elisa, additional, Verrillo, Lucia, additional, Polli, Roberta, additional, McEntagart, Meriel, additional, Licchetta, Laura, additional, Dilena, Robertino, additional, D’Arrigo, Stefano, additional, Ciaccio, Claudia, additional, Esposito, Silvia, additional, Leuzzi, Vincenzo, additional, Torella, Annalaura, additional, Baldo, Demetrio, additional, Lonardo, Fortunato, additional, Bonato, Giulia, additional, Pellegrin, Serena, additional, Stanzial, Franco, additional, Posmyk, Renata, additional, Kaczorowska, Ewa, additional, Carecchio, Miryam, additional, Gos, Monika, additional, Rzońca-Niewczas, Sylwia, additional, Miano, Maria Giuseppina, additional, and Murgia, Alessandra, additional

Published
2022
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11. Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency

Author

Hogendorf, Anna, primary, Zieliński, Maciej, additional, Constantinou, Maria, additional, Śmigiel, Robert, additional, Wierzba, Jolanta, additional, Wyka, Krystyna, additional, Wędrychowicz, Anna, additional, Jakubiuk-Tomaszuk, Anna, additional, Budzynska, Edyta, additional, Piotrowicz, Malgorzata, additional, Lipska-Ziętkiewicz, Beata S., additional, Kaczorowska, Ewa, additional, Cieślikowska, Agata, additional, Kutkowska-Kaźmierczak, Anna, additional, Fijak-Moskal, Jolanta, additional, Kugaudo, Monika, additional, Kosińska-Urbańska, Małgorzata, additional, Szadkowska, Agnieszka, additional, Borowiec, Maciej, additional, Niedźwiecki, Maciej, additional, Trzonkowski, Piotr, additional, and Młynarski, Wojciech, additional

Published
2021
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20. Carbon-13 NMR relaxation study of the internal dynamics in cyclodextrins in isotropic solution

Author

Bernatowicz, Piotr, Ruszczyska-Bartnik, Katarzyna, Ejchart, Andrzej, Dodziuk, Helena, Kaczorowska, Ewa, and Ueda, Haruhisa

Subjects
Cyclodextrins -- Structure, Cyclodextrins -- Chemical properties, Magnetic fields -- Analysis, Nuclear magnetic resonance spectroscopy -- Usage, Solvation -- Analysis, Carbon -- Isotopes, Carbon -- Chemical properties, Chemicals, plastics and rubber industries
Published
2010

24. Effects of various squalene epoxides on coenzyme Q and cholesterol synthesis

Author

Bentinger, Magnus, Kania, Magdalena, Danikiewicz, Witold, Kaczorowska, Ewa, Wojcik, Jacek, Brismar, Kerstin, Dallner, Gustav, Chojnacki, Tadeusz, Swiezewska, Ewa, Tekle, Michael, Bentinger, Magnus, Kania, Magdalena, Danikiewicz, Witold, Kaczorowska, Ewa, Wojcik, Jacek, Brismar, Kerstin, Dallner, Gustav, Chojnacki, Tadeusz, Swiezewska, Ewa, and Tekle, Michael

Abstract

2,3-Oxidosqualene is an intermediate in cholesterol biosynthesis and 2,3:22,23-dioxidosqualene act as the substrate for an alternative pathway that produces 24(S),25-epoxycholesterol which effects cholesterol homeostasis. In light of our previous findings concerning the biological effects of certain epoxidated all-trans-polyisoprenes, the effects of squalene carrying epoxy moieties on the second and third isoprene residues were investigated here. In cultures of HepG2 cells both monoepoxides of squalene and one of their hydrolytic products inhibited cholesterol synthesis and stimulated the synthesis of coenzyme Q (CoQ). Upon prolonged treatment the cholesterol content of these cells and its labeling with [H-3]mevalonate were reduced, while the amount and labeling of CoQ increased. Injection of the squalene monoepoxides into mice once daily for 6 days elevated the level of CoQ in their blood, but did not change the cholesterol level. The same effects were observed upon treatment of apoE-deficient mice and diabetic GK-rats. This treatment increased the hepatic level of CoQ10 in mice, but the amount of CoQ9, which is the major form, was unaffected. The presence of the active compounds in the blood was supported by the finding that cholesterol synthesis in the white blood cells was inhibited. Since the ratio of CoQ9/CoQ10 varies depending on the experimental conditions, the cells were titrated with substrate and inhibitors, leading to the conclusion that the intracellular isopentenyl-PP pool is a regulator of this ratio. Our present findings indicate that oxidosqualenes may be useful for stimulating both the synthesis and level of CoQ both in vitro and in vivo., AuthorCount:10

Published
2014
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31. Ultrafast optical switching for polyarylates with allylic groups by Nd:YAG Sagnac interferometer.

Author

Ciołek1, Rafał, Ratusznik, Grzegorz J., Świłło, Rafał, Pura, Bronisław, Zadrożna, Irmina, Piramidowicz, Ryszard, Kaczorowska, Ewa, and Zagórski, Alfred

Subjects
SWITCHING theory, POLYMERS, THIN films, NEODYMIUM, YTTRIUM, ALUMINUM, INTERFEROMETERS, OPTICAL communications
Abstract

In this paper, an ultrafast optical switching for thin polymer films (polyarylans with allylic groups) is presented. It was realized using the Nd:YAG Sagnac interferometer. Investigated polymers appeared to be suitable candidates for elements of integrated optical telecommunication systems. [ABSTRACT FROM AUTHOR]

Published
2006

32. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Author

Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, Elisa Bettella, Lucia Verrillo, Roberta Polli, Meriel McEntagart, Laura Licchetta, Robertino Dilena, Stefano D’Arrigo, Claudia Ciaccio, Silvia Esposito, Vincenzo Leuzzi, Annalaura Torella, Demetrio Baldo, Fortunato Lonardo, Giulia Bonato, Serena Pellegrin, Franco Stanzial, Renata Posmyk, Ewa Kaczorowska, Miryam Carecchio, Monika Gos, Sylwia Rzońca-Niewczas, Maria Giuseppina Miano, Alessandra Murgia, 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, and Murgia, Alessandra

Subjects
Genetics, Genetics (clinical)
Abstract

Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders (NDDs). The KDM5C gene, located in the Xp22 chromosomal region, encodes the H3K4me3-me2 eraser involved in neuronal plasticity and dendritic growth. Here we report 30 individuals carrying 13 novel and one previously identified KDM5C variants. Our cohort includes the first reported case of somatic mosaicism in a male carrying a KDM5C nucleotide substitution, and a dual molecular finding in a female carrying a homozygous truncating FUCA1 alteration together with a de novo KDM5C variant. With the use of next generation sequencing strategies, we detected 1 frameshift, 1 stop codon, 2 splice-site and 10 missense variants, which pathogenic role was carefully investigated by a thorough bioinformatic analysis. The pattern of X-chromosome inactivation was found to have an impact on KDM5C phenotypic expression in females of our cohort. The affected individuals of our case series manifested a neurodevelopmental condition characterized by psychomotor delay, intellectual disability with speech disorders, and behavioral features with particular disturbed sleep pattern; other observed clinical manifestations were short stature, obesity and hypertrichosis. Collectively, these findings expand the current knowledge about the pathogenic mechanisms leading to dysfunction of this important chromatin remodeling gene and contribute to a refinement of the KDM5C phenotypic spectrum.

Published
2022

33. 5-Trifluoromethyl-2-formylphenylboronic Acid.

Author

Adamczyk-Woźniak A, Gozdalik JT, Wieczorek D, Madura ID, Kaczorowska E, Brzezińska E, Sporzyński A, and Lipok J

Subjects
Anti-Bacterial Agents chemical synthesis, Anti-Bacterial Agents chemistry, Antifungal Agents chemical synthesis, Antifungal Agents chemistry, Benzaldehydes chemical synthesis, Benzaldehydes chemistry, Boronic Acids chemical synthesis, Boronic Acids chemistry, Candida albicans drug effects, Candida albicans pathogenicity, Escherichia coli drug effects, Escherichia coli pathogenicity, Leucine-tRNA Ligase antagonists & inhibitors, Microbial Sensitivity Tests, Anti-Bacterial Agents pharmacology, Antifungal Agents pharmacology, Benzaldehydes pharmacology, Boronic Acids pharmacology
Abstract

2-Formylphenylboronic acids display many interesting features, not only from synthetic but also from an application as well as structural points of view. 5-Trifluoromethyl-2-formyl phenylboronic acid has been synthesized and characterized in terms of its structure and properties. The presence of an electron-withdrawing substituent results in a considerable rise in the acidity in comparison with its analogues. In some solutions, the title compound isomerizes with formation of the corresponding 3hydroxybenzoxaborole. Taking into account the probable mechanism of antifungal action of benzoxaboroles, which blocks the cytoplasmic leucyl-tRNA synthetase (LeuRS) of the microorganism, docking studies with the active site of the enzymes have been carried out. It showed possible binding of the cyclic isomer into the binding pocket of Candida albicans LeuRS, similar to that of the recently approved benzoxaborole antifungal drug ( AN2690 , Tavaborole, Kerydin). In case of Escherichia coli LeuRS, the opened isomer displays a much higher inhibition constant in comparison with the cyclic one. The antimicrobial activity of the title compound was also investigated in vitro , showing moderate action against Candida albicans . The compound reveals higher activity against Aspergillus niger as well as bacteria such as Escherichia coli and Bacillus cereus . In case of Bacillus cereus , the determined Minimum Inhibitory Concentration (MIC) value is lower than that of AN2690 (Tavaborole). The results confirm potential of 2-formylphenylboronic acids as antibacterial agents and give a hint of their possible mechanism of action., Competing Interests: The authors declare no conflicts of interest.

Published
2020
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34. Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

Author

Kaczorowska E, Zimowski J, Cichoń-Kotek M, Mrozińska A, Purzycka J, Wierzba J, Limon J, and Lipska-Ziętkiewicz BS

Subjects
Child, Preschool, Dystrophin genetics, Female, Frameshift Mutation, Humans, Infant, Muscular Dystrophy, Duchenne diagnosis, Muscular Dystrophy, Duchenne metabolism, Sequence Deletion, Muscular Dystrophy, Duchenne complications, Turner Syndrome complications
Abstract

Introduction: Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally., Case Presentation: Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy., Conclusion: The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.

Published
2016

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