Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Piotr Stawiński"'
Autor:
Lena Rutkowska, Iwona Pinkier, Kinga Sałacińska, Łukasz Kępczyński, Dominik Salachna, Joanna Lewek, Maciej Banach, Paweł Matusik, Ewa Starostecka, Andrzej Lewiński, Rafał Płoski, Piotr Stawiński, Agnieszka Gach
Publikováno v:
Genes, Vol 13, Iss 8, p 1424 (2022)
Familial hypercholesterolemia (FH) is an inherited, autosomal dominant metabolic disorder mostly associated with disease-causing variant in LDLR, APOB or PCSK9. Although the dominant changes are small-scale missense, frameshift and splicing variants,
Externí odkaz:
https://doaj.org/article/8727f961dcd14e75afb68b4c059aae0a
Autor:
Aleksander Salomon-Perzyński, Joanna Barankiewicz, Marcin Machnicki, Irena Misiewicz-Krzemińska, Michał Pawlak, Sylwia Radomska, Agnieszka Krzywdzińska, Aleksandra Bluszcz, Piotr Stawiński, Małgorzata Rydzanicz, Natalia Jakacka, Iwona Solarska, Katarzyna Borg, Zofia Spyra-Górny, Tomasz Szpila, Bartosz Puła, Sebastian Grosicki, Tomasz Stokłosa, Rafał Płoski, Ewa Lech-Marańda, Jana Jakubikova, Krzysztof Jamroziak
Publikováno v:
Biomedicines, Vol 10, Iss 7, p 1674 (2022)
Clonal evolution drives treatment failure in multiple myeloma (MM). Here, we used a custom 372-gene panel to track genetic changes occurring during MM progression at different stages of the disease. A tumor-only targeted next-generation DNA sequencin
Externí odkaz:
https://doaj.org/article/157b567d61334d2ca4fc78ec78d72b72
Autor:
Małgorzata Rydzanicz, Pawel Olszewski, Darek Kedra, Hanna Davies, Natalia Filipowicz, Bozena Bruhn‐Olszewska, Marco Cavalli, Krzysztof Szczałuba, Marlena Młynek, Marcin M. Machnicki, Piotr Stawiński, Grażyna Kostrzewa, Paweł Krajewski, Dariusz Śladowski, Krystyna Chrzanowska, Jan P. Dumanski, Rafał Płoski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post‐zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of
Externí odkaz:
https://doaj.org/article/853c2803d00245c78a246f0a79689b02
Autor:
Przemysław Chmielewski, Grażyna Truszkowska, Ilona Kowalik, Małgorzata Rydzanicz, Ewa Michalak, Małgorzata Sobieszczańska-Małek, Maria Franaszczyk, Piotr Stawiński, Małgorzata Stępień-Wojno, Artur Oręziak, Michał Lewandowski, Przemysław Leszek, Maria Bilińska, Tomasz Zieliński, Rafał Płoski, Zofia T. Bilińska
Publikováno v:
Diagnostics, Vol 12, Iss 1, p 13 (2021)
Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to assess 1) early
Externí odkaz:
https://doaj.org/article/54e9724ff6f042be80dc9073f8cf5bb3
Autor:
Sylwia Rzońca-Niewczas, Jolanta Wierzba, Ewa Kaczorowska, Milena Poryszewska, Joanna Kosińska, Piotr Stawiński, Rafał Płoski, Jerzy Bal
Publikováno v:
Genes, Vol 12, Iss 12, p 1911 (2021)
Investigating novel genetic variants involved in intellectual disability (ID) development is essential. X-linked intellectual disability (XLID) accounts for over 10% of all cases of ID in males. XLID genes are involved in many cellular pathways and p
Externí odkaz:
https://doaj.org/article/1ac9c4f3e49b417e920e11d0e5a71212
Autor:
Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Abstract Background Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment. TRIOBP in the inner ear is respo
Externí odkaz:
https://doaj.org/article/d812568f98c04f5dabe80a72c10d3747
Autor:
Katarzyna Skonieczna, Jan Styczyński, Anna Krenska, Piotr Stawiński, Rafał Płoski, Katarzyna Derwich, Wanda Badowska, Mariusz Wysocki, Tomasz Grzybowski
Publikováno v:
Polish Journal of Pathology, Vol 68, Iss 3, Pp 210-217 (2017)
This study aimed to find novel genetic variants of susceptibility to aspąergillosis in paediatric patients with haematological malignancies. Complete sequences of fifteen genes of human innate immunity (CCL2, CCR2, CD209, CLEC6A, CLEC7A and ten TLR
Externí odkaz:
https://doaj.org/article/11323eaecad04fd1a444f51cbbb96fc9
Autor:
Ewelina Wolańska, Agnieszka Pollak, Małgorzata Rydzanicz, Karolina Pesz, Magdalena Kłaniewska, Anna Rozensztrauch, Paweł Skiba, Piotr Stawiński, Rafał Płoski, Robert Śmigiel
Publikováno v:
Genes, Vol 12, Iss 3, p 350 (2021)
Psychomotor delay, hypotonia, and intellectual disability, as well as heart defects, urogenital malformations, and characteristic cranio-facial dysmorphism are the main symptoms of dysmorphic syndrome associated with intergenic deletion in the Xq24 c
Externí odkaz:
https://doaj.org/article/259191fa0de14751ba030647b7bc3451
Autor:
Grażyna T. Truszkowska, Zofia T. Bilińska, Angelika Muchowicz, Agnieszka Pollak, Anna Biernacka, Katarzyna Kozar-Kamińska, Piotr Stawiński, Piotr Gasperowicz, Joanna Kosińska, Tomasz Zieliński, Rafał Płoski
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-5 (2017)
Abstract The genetic background of dilated cardiomyopathy is highly heterogeneous, with close to 100 known genes and a number of candidates described to date. Nebulin-related-anchoring protein (NRAP) is an actin-binding cytoskeletal protein expressed
Externí odkaz:
https://doaj.org/article/6446ec4421834fc0878115d8121427e5
Autor:
Robert Śmigiel, Mateusz Biela, Krzysztof Szmyd, Michal Błoch, Elżbieta Szmida, Paweł Skiba, Anna Walczak, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Piotr Stawiński, Anna Biernacka, Marzena Zielińska, Waldemar Gołębiowski, Agnieszka Jalowska, Grażyna Ohia, Bożena Głowska, Wojciech Walas, Barbara Królak-Olejnik, Paweł Krajewski, Jolanta Sykut-Cegielska, Maria M. Sąsiadek, Rafał Płoski
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 7, p 2220 (2020)
Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acut
Externí odkaz:
https://doaj.org/article/1c631c393a9549f485568ceabd4af306