Zobrazeno 1 - 10
of 124
pro vyhledávání: '"Krystyna H. Chrzanowska"'
Autor:
Krystyna H. Chrzanowska, Eva Seemanova, Raymonda Varon, Martin Digweed, Dorota Piekutowska‐Abramczuk, Karl Sperling, Pavel Seeman
Publikováno v:
Cancer Reports, Vol 6, Iss 2, Pp n/a-n/a (2023)
Abstract Background Nijmegen breakage syndrome (NBS) is an autosomal‐recessive chromosome instability disorder characterized by, among others, hypersensitivity to X‐irradiation and an exceptionally high risk for lymphoid malignancy. The vast majo
Externí odkaz:
https://doaj.org/article/d4396e54513c4de8b1e77c21035f9857
Autor:
Soraia Martins, Lars Erichsen, Angeliki Datsi, Wasco Wruck, Wolfgang Goering, Eleftheria Chatzantonaki, Vanessa Cristina Meira de Amorim, Andrea Rossi, Krystyna H. Chrzanowska, James Adjaye
Publikováno v:
Cells, Vol 11, Iss 5, p 802 (2022)
Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive genetic disorder caused by mutations within nibrin (NBN), a DNA damage repair protein. Hallmarks of NBS include chromosomal instability and clinical manifestations such as growth retardat
Externí odkaz:
https://doaj.org/article/190926a79a5c426c8977b04f456875ce
Autor:
Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodolo
Externí odkaz:
https://doaj.org/article/05376b7ba5d44682bd5521cd615362c4
Autor:
Joanna Trubicka, Tomasz Żemojtel, Jochen Hecht, Katarzyna Falana, Dorota Piekutowska- Abramczuk, Rafał Płoski, Marta Perek-Polnik, Monika Drogosiewicz, Wiesława Grajkowska, Elżbieta Ciara, Elżbieta Moszczyńska, Bożenna Dembowska-Bagińska, Danuta Perek, Krystyna H. Chrzanowska, Małgorzata Krajewska-Walasek, Maria Łastowska
Publikováno v:
BMC Cancer, Vol 17, Iss 1, Pp 1-11 (2017)
Abstract Background The defects in DNA repair genes are potentially linked to development and response to therapy in medulloblastoma. Therefore the purpose of this study was to establish the spectrum and frequency of germline variants in selected DNA
Externí odkaz:
https://doaj.org/article/a96162f4796c4a65bf39ef853fbba71b
Autor:
Soraia Martins, Martina Bohndorf, Nina Graffmann, Wasco Wruck, Krystyna H. Chrzanowska, James Adjaye
Publikováno v:
Stem Cell Research, Vol 34, Iss , Pp - (2019)
Human fibroblasts cells from a female diagnosed with Nijmegen Breakage Syndrome (NBS) carrying the homozygous NBN c.657_661del5 mutation were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based p
Externí odkaz:
https://doaj.org/article/7296a076dca740e1a7f4fea0c0ee44cd
Autor:
Anna M. Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, Joanna Murawska, Joanna Jakubaszko-Jablonska, Małgorzata Rydzanicz, Piotr Stawiński, Elżbieta Ciara, Muhammad Imran Khan, Arjen Henkes, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Frans P. M. Cremers, Rafał Płoski, Krystyna H. Chrzanowska
Publikováno v:
Genes, Vol 10, Iss 12, p 959 (2019)
Mutations in retina-specific ATP-binding cassette transporter 4 (ABCA4) are responsible for over 95% of cases of Stargardt disease (STGD), as well as a minor proportion of retinitis pigmentosa (RP) and cone-rod dystrophy cases (CRD). Since the knowle
Externí odkaz:
https://doaj.org/article/9f90c3c24ed64f438166b0b0f29b70ea
Autor:
Sofie Degerman, Mattias Landfors, Jan Konrad Siwicki, John Revie, Magnus Borssén, Emma Evelönn, Erik Forestier, Krystyna H. Chrzanowska, Patrik Rydén, W. Nicol Keith, Göran Roos
Publikováno v:
Neoplasia: An International Journal for Oncology Research, Vol 16, Iss 7, Pp 606-615 (2014)
We have previously described gene expression changes during spontaneous immortalization of T-cells, thereby identifying cellular processes important for cell growth crisis escape and unlimited proliferation. Here, we analyze the same model to investi
Externí odkaz:
https://doaj.org/article/45a9461da5ed43f1b09b8e7969e6aabe
Autor:
Krystyna H. Chrzanowska, Eva Seemanova, Raymonda Varon, Martin Digweed, Dorota Piekutowska‐Abramczuk, Karl Sperling, Pavel Seeman
Publikováno v:
Cancer Reports. 6
Publikováno v:
Postępy Higieny i Medycyny Doświadczalnej, Vol 74, Pp 532-540 (2020)
Epigenetic modifications control gene expression and enable the same genotype to lead to various phenotypes, thus exhibiting extensive variability in human cells function. DNA methylation is one of the most often investigated epigenetic modifications
Autor:
Krystyna H. Chrzanowska, Magdalena Pelc, Dorota Jurkiewicz, Małgorzata Krajewska-Walasek, Elżbieta Ciara, Monika Kugaudo, Agata Skórka
Publikováno v:
Clinical Dysmorphology. 29:28-34
Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder characterised by macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and predisposition to embryonal tumours. BWS results mainly from epigenet