Search Results - "PLOSKI, Rafal"

Development of the VISAGE enhanced tool and statistical models for epigenetic age estimation in blood, buccal cells and bones by Woźniak, Anna, Heidegger, Antonia, Piniewska-Róg, Danuta, Pośpiech, Ewelina, Xavier, Catarina, Pisarek, Aleksandra, Kartasińska, Ewa, Boroń, Michał, Freire-Aradas, Ana, Wojtas, Marta, de la Puente, Maria, Niederstätter, Harald, Płoski, Rafał, Spólnicka, Magdalena, Kayser, Manfred, Phillips, Christopher, Parson, Walther, Branicki, Wojciech

“…DNA methylation is known as a biomarker for age with applications in forensics. Here we describe the VISAGE (VISible Attributes through GEnomics) Consortium's…”
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Non-allergic eye rubbing is a major behavioral risk factor for keratoconus by Jaskiewicz, Katarzyna, Maleszka-Kurpiel, Magdalena, Michalski, Andrzej, Ploski, Rafal, Rydzanicz, Malgorzata, Gajecka, Marzena

“…Since the environmental, behavioral, and socioeconomic factors in the etiology of keratoconus (KTCN) remain poorly understood, we characterized them as…”
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Identification and In Silico Characterization of a Novel COLGALT2 Gene Variant in a Child with Mucosal Rectal Prolapse by Sadakierska-Chudy, Anna, Szymanowski, Paweł, Lebioda, Arleta, Płoski, Rafał

“…Rectal prolapse is influenced by many factors including connective tissue dysfunction. Currently, there is no data about genetic contribution in the etiology…”
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A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report by Szczawinska-Poplonyk, Aleksandra, Ploski, Rafal, Bernatowska, Ewa, Pac, Malgorzata

“…The ( ) gene product, CDC42, is a member of the family of small Rho GTPases, which are implicated in a broad spectrum of physiological functions in cell cycle…”
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NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood by Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, Lohmeier, Klaus, Schneider, Dominik, Klee, Dirk, Rokicki, Dariusz, Mayatepek, Ertan, Strom, Tim M., Meitinger, Thomas, Klopstock, Thomas, Pronicka, Ewa, Mayr, Johannes A., Baric, Ivo, Distelmaier, Felix, Prokisch, Holger

“…To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE,…”
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TRIM28 and Interacting KRAB-ZNFs Control Self-Renewal of Human Pluripotent Stem Cells through Epigenetic Repression of Pro-differentiation Genes by Oleksiewicz, Urszula, Gładych, Marta, Raman, Ayush T., Heyn, Holger, Mereu, Elisabetta, Chlebanowska, Paula, Andrzejewska, Anastazja, Sozańska, Barbara, Samant, Neha, Fąk, Katarzyna, Auguścik, Paulina, Kosiński, Marcin, Wróblewska, Joanna P., Tomczak, Katarzyna, Kulcenty, Katarzyna, Płoski, Rafał, Biecek, Przemysław, Esteller, Manel, Shah, Parantu K., Rai, Kunal, Wiznerowicz, Maciej

“…Reprogramming to induced pluripotent stem cells (iPSCs) and differentiation of pluripotent stem cells (PSCs) are regulated by epigenetic machinery. Tripartite…”
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Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data by Pośpiech, Ewelina, Kukla-Bartoszek, Magdalena, Karłowska-Pik, Joanna, Zieliński, Piotr, Woźniak, Anna, Boroń, Michał, Dąbrowski, Michał, Zubańska, Magdalena, Jarosz, Agata, Grzybowski, Tomasz, Płoski, Rafał, Spólnicka, Magdalena, Branicki, Wojciech

“…Greying of the hair is an obvious sign of human aging. In addition to age, sex- and ancestry-specific patterns of hair greying are also observed and the…”
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Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease by Paprocka, Justyna, Nowak, Magdalena, Machnikowska-Sokołowska, Magdalena, Rutkowska, Karolina, Płoski, Rafał

“…Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by mutation. Symptoms…”
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The case of fatal acute hemorrhagic necrotizing encephalitis in a two-month-old boy with Covid-19 by Mierzewska-Schmidt, Magdalena, Baranowski, Artur, Szymanska, Krystyna, Ciaston, Michal, Kuchar, Ernest, Ploski, Rafal, Kosinska, Joanna, Pagowska-Klimek, Izabela

“…•COVID-19 in children may have atypical manifestations including neurological ones•The first case of acute hemorrhagic necrotizing encephalitis in a child with…”
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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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Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations by Franaszczyk, Maria, Chmielewski, Przemyslaw, Truszkowska, Grazyna, Stawinski, Piotr, Michalak, Ewa, Rydzanicz, Malgorzata, Sobieszczanska-Malek, Malgorzata, Pollak, Agnieszka, Szczygieł, Justyna, Kosinska, Joanna, Parulski, Adam, Stoklosa, Tomasz, Tarnowska, Agnieszka, Machnicki, Marcin M, Foss-Nieradko, Bogna, Szperl, Malgorzata, Sioma, Agnieszka, Kusmierczyk, Mariusz, Grzybowski, Jacek, Zielinski, Tomasz, Ploski, Rafal, Bilinska, Zofia T

“…TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine…”
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Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations by Ciara, Elżbieta, Rokicki, Dariusz, Lazniewski, Michal, Mierzewska, Hanna, Jurkiewicz, Elżbieta, Bekiesińska-Figatowska, Monika, Piekutowska-Abramczuk, Dorota, Iwanicka-Pronicka, Katarzyna, Szymańska, Edyta, Stawiński, Piotr, Kosińska, Joanna, Pollak, Agnieszka, Pronicki, Maciej, Plewczyński, Dariusz, Płoski, Rafał, Pronicka, Ewa

“…Most of the 19 mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) involved in mitochondrial protein synthesis are already linked to specific entities, one of…”
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Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications by Ballantyne, Kaye N., Goedbloed, Miriam, Fang, Rixun, Schaap, Onno, Lao, Oscar, Wollstein, Andreas, Choi, Ying, van Duijn, Kate, Vermeulen, Mark, Brauer, Silke, Decorte, Ronny, Poetsch, Micaela, von Wurmb-Schwark, Nicole, de Knijff, Peter, Labuda, Damian, Vézina, Hélène, Knoblauch, Hans, Lessig, Rüdiger, Roewer, Lutz, Ploski, Rafal, Dobosz, Tadeusz, Henke, Lotte, Henke, Jürgen, Furtado, Manohar R., Kayser, Manfred

“…Nonrecombining Y-chromosomal microsatellites (Y-STRs) are widely used to infer population histories, discover genealogical relationships, and identify males…”
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Gender Influences Gut Microbiota among Patients with Irritable Bowel Syndrome by Pecyna, Paulina, Gabryel, Marcin, Mankowska-Wierzbicka, Dorota, Nowak-Malczewska, Dorota M, Jaskiewicz, Katarzyna, Jaworska, Marcelina M, Tomczak, Hanna, Rydzanicz, Malgorzata, Ploski, Rafal, Grzymislawski, Marian, Dobrowolska, Agnieszka, Gajecka, Marzena

“…Irritable bowel syndrome (IBS) is a chronic functional gastrointestinal disease that affects approximately 11% of the general population. The gut microbiota,…”
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Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy by Danhauser, Katharina, Alhaddad, Bader, Makowski, Christine, Piekutowska-Abramczuk, Dorota, Syrbe, Steffen, Gomez-Ospina, Natalia, Manning, Melanie A., Kostera-Pruszczyk, Anna, Krahn-Peper, Claudia, Berutti, Riccardo, Kovács-Nagy, Reka, Gusic, Mirjana, Graf, Elisabeth, Laugwitz, Lucia, Röblitz, Michaela, Wroblewski, Andreas, Hartmann, Hans, Das, Anibh M., Bültmann, Eva, Fang, Fang, Xu, Manting, Schatz, Ulrich A., Karall, Daniela, Zellner, Herta, Haberlandt, Edda, Feichtinger, René G., Mayr, Johannes A., Meitinger, Thomas, Prokisch, Holger, Strom, Tim M., Płoski, Rafał, Hoffmann, Georg F., Pronicki, Maciej, Bonnen, Penelope E., Morlot, Susanne, Haack, Tobias B.

“…ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases transfer ADP-ribose from NAD+ to the…”
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Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report by Zakrzewska-Koperska, Joanna, Franaszczyk, Maria, Bilińska, Zofia, Truszkowska, Grażyna, Karczmarz, Małgorzata, Szumowski, Łukasz, Zieliński, Tomasz, Płoski, Rafał, Bilińska, Maria

“…Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm…”
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Successful use of a phage endolysin for treatment of chronic pelvic pain syndrome/chronic bacterial prostatitis by Stevens, Roy H., Zhang, Hongming, Kajsik, Michal, Płoski, Rafał, Rydzanicz, Malgorzata, Sabaka, Peter, Šutovský, Stanislav

“…Chronic prostatitis (CP) is a common inflammatory condition of the prostate that is estimated to effect 2%–10% of the world’s male population. It can manifest…”
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A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia by Bzdęga, Katarzyna, Biela, Mateusz, Deutsch, Gail H, Kitzmiller, Joseph A, Rydzanicz, Małgorzata, Płoski, Rafał, Whitsett, Jeffrey A, Śmigiel, Robert, Karolak, Justyna A

“…Congenital alveolar dysplasia (CAD) belongs to rare lethal lung developmental disorders (LLDDs) in neonates, manifesting with acute respiratory failure and…”
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A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum by Frasuńska, Justyna, Pollak, Agnieszka, Turczyn, Paweł, Kutkowska-Kaźmierczak, Anna, Pepłowski, Jakub, Płoski, Rafał, Tarnacka, Beata

“…A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf…”
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The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis by Bylińska, Aleksandra, Wilczyńska, Karolina, Malejczyk, Jacek, Milewski, Łukasz, Wagner, Marta, Jasek, Monika, Niepiekło-Miniewska, Wanda, Wiśniewski, Andrzej, Płoski, Rafał, Barcz, Ewa, Roszkowski, Piotr, Kamiński, Paweł, Malinowski, Andrzej, Wilczyński, Jacek R., Radwan, Paweł, Radwan, Michał, Kuśnierczyk, Piotr, Nowak, Izabela

“…Endometriosis is a disease in which endometriotic tissue occurs outside the uterus. Its pathogenesis is still unknown. The most widespread hypothesis claims…”
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