Search Results - "Stawiński, Piotr"

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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Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy by Truszkowska, Grażyna T., Bilińska, Zofia T., Muchowicz, Angelika, Pollak, Agnieszka, Biernacka, Anna, Kozar-Kamińska, Katarzyna, Stawiński, Piotr, Gasperowicz, Piotr, Kosińska, Joanna, Zieliński, Tomasz, Płoski, Rafał

“…The genetic background of dilated cardiomyopathy is highly heterogeneous, with close to 100 known genes and a number of candidates described to date…”
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Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants by Lipiński, Patryk, Stawiński, Piotr, Rydzanicz, Małgorzata, Wypchło, Maria, Płoski, Rafał, Stradomska, Teresa Joanna, Jurkiewicz, Elżbieta, Ferdinandusse, Sacha, Wanders, Ronald J. A., Vaz, Frederic M., Tylki-Szymańska, Anna

“…Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations…”
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Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss by Pollak, Agnieszka, Lechowicz, Urszula, Kędra, Anna, Stawiński, Piotr, Rydzanicz, Małgorzata, Furmanek, Mariusz, Brzozowska, Małgorzata, Mrówka, Maciej, Skarżyński, Henryk, Skarżyński, Piotr H, Ołdak, Monika, Płoski, Rafał

“…POU3F4 mutations (DFNX2) are the most prevalent among non-syndromic X-linked hearing loss (HL) identified to date. Clinical manifestations of DFNX2 usually…”
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Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines by Szczałuba, Krzysztof, Chmielewska, Joanna J., Sokolowska, Olga, Rydzanicz, Małgorzata, Szymańska, Krystyna, Feleszko, Wojciech, Włodarski, Paweł, Biernacka, Anna, Murcia Pienkowski, Victor, Walczak, Anna, Bargeł, Elżbieta, Królewczyk, Katarzyna, Nowacka, Agata, Stawiński, Piotr, Nowis, Dominika, Dziembowska, Magdalena, Płoski, Rafał

“…Protein tyrosine phosphatase non‐receptor type 4 (PTPN4) encodes non‐receptor protein tyrosine phosphatase implicated in synaptic plasticity and innate immune…”
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Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss by Pollak, Agnieszka, Lechowicz, Urszula, Murcia Pieńkowski, Victor Abel, Stawiński, Piotr, Kosińska, Joanna, Skarżyński, Henryk, Ołdak, Monika, Płoski, Rafał

“…Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases,…”
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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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Inverse association between obesity predisposing FTO genotype and completed suicide by Chojnicka, Izabela, Fudalej, Sylwia, Walczak, Anna, Wasilewska, Krystyna, Fudalej, Marcin, Stawiński, Piotr, Strawa, Katarzyna, Pawlak, Aleksandra, Wojnar, Marcin, Krajewski, Paweł, Płoski, Rafał

“…The A allele of rs9939609 in the FTO gene predisposes to increased body mass index (BMI) and obesity. Recently we showed an inverse association between the…”
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Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene by Chojnicka, Izabela, Gajos, Krzysztof, Strawa, Katarzyna, Broda, Grażyna, Fudalej, Sylwia, Fudalej, Marcin, Stawiński, Piotr, Pawlak, Aleksandra, Krajewski, Paweł, Wojnar, Marcin, Płoski, Rafał

“…rs6943555 in AUTS2 has been shown to modulate ethanol consumption. We hypothesized that rs6943555 might be associated with completed suicide. We genotyped…”
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Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment by Chmielewski, Przemysław, Truszkowska, Grażyna, Kowalik, Ilona, Rydzanicz, Małgorzata, Michalak, Ewa, Sobieszczańska-Małek, Małgorzata, Franaszczyk, Maria, Stawiński, Piotr, Stępień-Wojno, Małgorzata, Oręziak, Artur, Lewandowski, Michał, Leszek, Przemysław, Bilińska, Maria, Zieliński, Tomasz, Płoski, Rafał, Bilińska, Zofia T

“…Titin truncating variants ( tv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating…”
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Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications by Rydzanicz, Małgorzata, Olszewski, Pawel, Kedra, Darek, Davies, Hanna, Filipowicz, Natalia, Bruhn‐Olszewska, Bozena, Cavalli, Marco, Szczałuba, Krzysztof, Młynek, Marlena, Machnicki, Marcin M., Stawiński, Piotr, Kostrzewa, Grażyna, Krajewski, Paweł, Śladowski, Dariusz, Chrzanowska, Krystyna, Dumanski, Jan P., Płoski, Rafał

“…Background Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post‐zygotic genetic variation and provide insights into…”
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Wychowanie religijne w purytańskich rodzinach Nowej Anglii by Stawiński, Piotr

“…Przedmiotem zainteresowania w artykule jest stosunek siedemnastowiecznych kolonistów purytańskich w Ameryce Północnej do kwestii rodziny, jej pochodzenia,…”
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Massively parallel targeted resequencing reveals novel genetic variants associated with aspergillosis in paediatric patients with haematological malignancies by Skonieczna, Katarzyna, Styczyński, Jan, Krenska, Anna, Stawiński, Piotr, Płoski, Rafał, Derwich, Katarzyna, Badowska, Wanda, Wysocki, Mariusz, Grzybowski, Tomasz

“…This study aimed to find novel genetic variants of susceptibility to aspąergillosis in paediatric patients with haematological malignancies. Complete sequences…”
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FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy by Paprocka, Justyna, Jezela‐Stanek, Aleksandra, Koppolu, Agniesz, Rydzanicz, Małgorzata, Kosińska, Joanna, Stawiński, Piotr, Płoski, Rafał

“…A patient harboring a novel p.Gly112Ser variant in FGF12 gene had a positive response to phenytoin/phenobarbital treatment. All the 11 previously reported…”
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Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis by Rydzanicz, Małgorzata, Glinkowski, Wojciech, Walczak, Anna, Koppolu, Agnieszka, Kostrzewa, Grażyna, Gasperowicz, Piotr, Pollak, Agnieszka, Stawiński, Piotr, Płoski, Rafał

“…Genetic mosaicism caused by postzygotic mutations is of a great interest due to its role in human disease. Monozygotic twins arising from a single zygote are…”
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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy by Piekutowska-Abramczuk, Dorota, Assouline, Zahra, Mataković, Lavinija, Feichtinger, René G., Koňařiková, Eliška, Jurkiewicz, Elżbieta, Stawiński, Piotr, Gusic, Mirjana, Koller, Andreas, Pollak, Agnieszka, Gasperowicz, Piotr, Trubicka, Joanna, Ciara, Elżbieta, Iwanicka-Pronicka, Katarzyna, Rokicki, Dariusz, Hanein, Sylvain, Wortmann, Saskia B., Sperl, Wolfgang, Rötig, Agnès, Prokisch, Holger, Pronicka, Ewa, Płoski, Rafał, Barcia, Giulia, Mayr, Johannes A.

“…Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from…”
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Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy by Materna-Kiryluk, Anna, Pollak, Agnieszka, Gawalski, Karol, Szczawinska-Poplonyk, Aleksandra, Rydzynska, Zuzanna, Sosnowska, Anna, Cukrowska, Bożena, Gasperowicz, Piotr, Konopka, Ewa, Pietrucha, Barbara, Grzywa, Tomasz M, Banaszak-Ziemska, Magdalena, Niedziela, Marek, Skalska-Sadowska, Jolanta, Stawiński, Piotr, Śladowski, Dariusz, Nowis, Dominika, Ploski, Rafal

“…Abstract Interleukin-6 signal transducer (IL6ST) encodes the GP130 protein which transduces the proinflammatory signaling of the IL6 cytokine family through…”
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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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Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression by Rydzanicz, Małgorzata, Wachowska, Małgorzata, Cook, Erik C, Lisowski, Paweł, Kuźniewska, Bożena, Szymańska, Krystyna, Diecke, Sebastian, Prigione, Alessandro, Szczałuba, Krzysztof, Szybińska, Aleksandra, Koppolu, Agnieszka, Murcia Pienkowski, Victor, Kosińska, Joanna, Wiweger, Małgorzata, Kostrzewa, Grażyna, Brzozowska, Małgorzata, Domańska-Pakieła, Dorota, Jurkiewicz, Elżbieta, Stawiński, Piotr, Gromadka, Agnieszka, Zielenkiewicz, Piotr, Demkow, Urszula, Dziembowska, Magdalena, Kuźnicki, Jacek, Creamer, Trevor P, Płoski, Rafał

“…PPP3CA encodes calmodulin-binding catalytic subunit of calcineurin, a ubiquitously expressed calcium/calmodulin-regulated protein phosphatase. Recently de novo…”
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