Search Results - "PLOSKI, Rafał"

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report by Klaniewska, Magdalena, Toczewski, Krystian, Rozensztrauch, Anna, Bloch, Michal, Dzielendziak, Agata, Gasperowicz, Piotr, Slezak, Ryszard, Ploski, Rafał, Rydzanicz, Małgorzata, Smigiel, Robert, Patkowski, Dariusz

“…The oncogene encodes a transcription factor belonging to the MYC family. It is primarily expressed in normal developing embryos and is thought to be critical…”
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Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment by Stawiński, Piotr, Płoski, Rafał

“…We present GeneBe, an online platform streamlining the automated application of American College of Medical Genetics and Genomics (ACMG), Association for…”
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ARMS-PCR for detection of BRAF V600E hotspot mutation in comparison with Real-Time PCR-based techniques by Machnicki, Marcin M, Glodkowska-Mrowka, Eliza, Lewandowski, Tomasz, Ploski, Rafał, Wlodarski, Pawel, Stoklosa, Tomasz

“…BRAF mutation testing is one of the best examples how modern genetic testing may help to effectively use targeted therapies in cancer patients. Since many…”
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Development of a forensically useful age prediction method based on DNA methylation analysis by Zbieć-Piekarska, Renata, Spólnicka, Magdalena, Kupiec, Tomasz, Parys-Proszek, Agnieszka, Makowska, Żanetta, Pałeczka, Anna, Kucharczyk, Krzysztof, Płoski, Rafał, Branicki, Wojciech

“…Highlights • Correlation between DNA methylation and chronological age was replicated for 8 loci including ELOVL2 on 6p24.2, C1orf132 on 1q32.2, TRIM59 on…”
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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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Postzygotic mutations and where to find them – Recent advances and future implications in the field of non-neoplastic somatic mosaicism by Wasilewska, Krystyna, Gambin, Tomasz, Rydzanicz, Małgorzata, Szczałuba, Krzysztof, Płoski, Rafał

“…The technological progress of massively parallel sequencing (MPS) has triggered a remarkable development in the research on postzygotic mutations. Although the…”
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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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FARSA mutations mimic phenylalanyl‐tRNA synthetase deficiency caused by FARSB defects by Krenke, Katarzyna, Szczałuba, Krzysztof, Bielecka, Teresa, Rydzanicz, Małgorzata, Lange, Joanna, Koppolu, Agnieszka, Płoski, Rafał

“…Pathogenic variants in genes encoding aminoacyl‐tRNA synthetases cause numerous disorders characterized by involvement of neurons, muscles, lungs and liver…”
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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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A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report by Badeńska, Marta, Pac, Małgorzata, Badeński, Andrzej, Rutkowska, Karolina, Czubilińska-Łada, Justyna, Płoski, Rafał, Bohynikova, Nadezda, Szczepańska, Maria

“…Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. Treatment with steroids is usually successful; however, in a small…”
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New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre by Pronicka, Ewa, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Trubicka, Joanna, Rokicki, Dariusz, Karkucińska-Więckowska, Agnieszka, Pajdowska, Magdalena, Jurkiewicz, Elżbieta, Halat, Paulina, Kosińska, Joanna, Pollak, Agnieszka, Rydzanicz, Małgorzata, Stawinski, Piotr, Pronicki, Maciej, Krajewska-Walasek, Małgorzata, Płoski, Rafał

“…Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants in mitochondrial disorders (MD). We performed WES in…”
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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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Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants by Badura-Stronka, Magdalena, Kuszel, Łukasz, Wencel-Warot, Agnieszka, Cudnoch, Kamila, Wołyńska, Katarzyna, Rutkowska, Karolina, Steinborn, Barbara, Płoski, Rafał

“…Missense variants in the synaptic vesicle glycoprotein SV2A gene have been previously found in a few individuals with epilepsy. Adverse reaction to…”
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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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A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy by Rydzanicz, Małgorzata, Zwoliński, Piotr, Gasperowicz, Piotr, Pollak, Agnieszka, Kostrzewa, Grażyna, Walczak, Anna, Konarzewska, Magdalena, Płoski, Rafał

“…Developmental and epileptic encephalopathies (DEE) are a heterogenous group of conditions characterized by the co‐occurrence of epilepsy and…”
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Examination of DNA methylation status of the ELOVL2 marker may be useful for human age prediction in forensic science by Zbieć-Piekarska, Renata, Spólnicka, Magdalena, Kupiec, Tomasz, Makowska, Żanetta, Spas, Anna, Parys-Proszek, Agnieszka, Kucharczyk, Krzysztof, Płoski, Rafał, Branicki, Wojciech

“…Highlights • We optimized an assay based on pyrosequencing of 7 CpG sites in the ELOVL2 gene. • The linear regression model based on ELOVL2 enabled age…”
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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance by Stenton, Sarah L., Piekutowska‐Abramczuk, Dorota, Kulterer, Lea, Kopajtich, Robert, Claeys, Kristl G., Ciara, Elżbieta, Eisen, Johannes, Płoski, Rafał, Pronicka, Ewa, Malczyk, Katarzyna, Wagner, Matias, Wortmann, Saskia B., Prokisch, Holger

“…Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy,…”
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