Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Krzysztof, Szczałuba"'
Autor:
Snir Boniel, Maria Krajewska, Beata Pyrżak, Monika Paluchowska, Anna Majcher, Magdalena Zarlenga, Katarzyna Krenke, Robert Śmigiel, Anetta Jeziorek, Krystyna Szymańska, Krzysztof Szczałuba
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Kabuki Syndrome (KS) encompasses a spectrum of clinical manifestations, primarily attributed to pathogenic variants in the KMT2D gene. This study aims to elucidate novel features in KS patients with missense variants, contrasting their presentation w
Externí odkaz:
https://doaj.org/article/81d3d3da74734251ad9937e63af7604b
Autor:
Justyna Paprocka, Michał Hutny, Jagoda Hofman, Agnieszka Tokarska, Magdalena Kłaniewska, Krzysztof Szczałuba, Agnieszka Stembalska, Aleksandra Jezela-Stanek, Robert Śmigiel
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
Background: Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called glycosylphosphatidylinositol-anchored proteins biosynthesis defects. Alterations
Externí odkaz:
https://doaj.org/article/a995d5d1d254490d95477a6a48289f57
Akademický článek
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Autor:
Krystyna Szymańska, Milena Laure-Kamionowska, Krzysztof Szczałuba, Agnieszka Koppolu, Mariusz Furmanek, Katarzyna Kuśmierska, Snir Boniel, Rafał Płoski, Małgorzata Rydzanicz
Publikováno v:
Folia Neuropathologica, Vol 56, Iss 4, Pp 362-371 (2018)
The clinical picture of BRCA1-associated protein required for ATM activation-1 (BRAT1) comprises retractable early-onset epileptic encephalopathy, progressive microcephaly, and early demise. Both, inter- and intrafamilial variations of features of BR
Externí odkaz:
https://doaj.org/article/f1c0099dad62457daa63da59e6673375
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:
Krzysztof Szczałuba, Małgorzata Rydzanicz, Anna Walczak, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska, Elżbieta Jurkiewicz, Paweł Kowalczyk, Rafał Płoski
Publikováno v:
Diagnostics, Vol 11, Iss 7, p 1269 (2021)
De novo somatic variants in genes encoding components of the PI3K–AKT3–mTOR pathway, including MTOR, have been linked to hemimegalencephaly or focal cortical dysplasia. Similarly to other malformations of cortical development, this condition pres
Externí odkaz:
https://doaj.org/article/c24ee47cf1ae4c838578fd85aa6c4183
Autor:
Monika Pelc‐Kłopotowska, Rafał Płoski, Krzysztof Szczałuba, Krystyna Szymańska, Małgorzata Rydzanicz, Sylwia Purchla‐Szepioła, Katarzyna Kolasińska, Małgorzata Lewicka, Nicole Thornton, Vanja Karamatic Crew, Agnieszka Orzińska, Katarzyna Guz
Publikováno v:
Transfusion. 62
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acfde6a381392ac0f7032a8dc2020330
https://doi.org/10.1111/trf.17040
https://doi.org/10.1111/trf.17040
Autor:
Anna Piórecka-Makuła, Ewa Makuła, Małgorzata Rydzanicz, Rafał Płoski, Krzysztof Szczałuba, Bożena Werner, Justyna Sicińska, Piotr Gasperowicz
Publikováno v:
Journal of Applied Genetics
Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic cond
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c1a52e7866f09d0758194fb21e2ebf4
https://doi.org/10.1007/s13353-020-00582-4
https://doi.org/10.1007/s13353-020-00582-4
Publikováno v:
Birth Defects Research. 112:652-659
The LRP4 gene encodes the highly conserved low-density lipoprotein receptor-related protein 4 (LRP4), which acts as a co-receptor for sclerostin. Sclerostin and LRP4 negatively regulate WNT/β-catenin signaling pathway and lack of their inhibitory ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::157343c9197cf64c24c4f7a113ca4604
https://doi.org/10.1002/bdr2.1676
https://doi.org/10.1002/bdr2.1676
Autor:
Piotr Stawiński, Małgorzata Rydzanicz, Rafał Płoski, Anna Biernacka, Robert Śmigiel, Agnieszka Pollak, Hanna Mierzewska, Agnieszka Koppolu, Krzysztof Szczałuba, Joanna Kosińska
Publikováno v:
Journal of Applied Genetics
Biallelic mutations in the AP4B1 gene, encoding adaptor-related protein complex 4 beta-1 subunit, have been recognized as an important cause of a group of conditions leading to adaptor-related protein complex 4 (AP4)-associated hereditary spastic par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d894e6a37ae4c0dcedccf0452986aab8
https://doi.org/10.1007/s13353-020-00552-w
https://doi.org/10.1007/s13353-020-00552-w