Zobrazeno 1 - 10
of 135
pro vyhledávání: '"Maria M. Sasiadek"'
Autor:
Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C. Southey
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing
Externí odkaz:
https://doaj.org/article/96ff13b8f46445d7b4cd9c3890c51824
Autor:
Maria M. Sasiadek, Lukasz Laczmanski, Nikolaus Blin, Zygmunt Grzebieniak, Marek Bebenek, Joanna Kozlowska, Blazej Misiak, David Ramsey, Elzbieta Szmida, Michael Walter, Pawel Karpinski
XLS file- 83KB, Methylation of CIMP-related markers and CRC cell lines epigenotyping. This file contains the data for Yagi's, Weisenberger's and Ogino's markers status in our HME, IME and LME pools and data acquired during CRC cell lines epigenotypin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c2691e45ba807535b4ee21e5514485e
https://doi.org/10.1158/1055-9965.22436740.v1
https://doi.org/10.1158/1055-9965.22436740.v1
Autor:
Maria M. Sasiadek, Lukasz Laczmanski, Nikolaus Blin, Zygmunt Grzebieniak, Marek Bebenek, Joanna Kozlowska, Blazej Misiak, David Ramsey, Elzbieta Szmida, Michael Walter, Pawel Karpinski
XLS file -45KB, Clinical and molecular characteristics of 100 CRCs selected for CGH. This file contains detailed molecular characteristics of 100 CRCs selected for CGH. Data obtained by CGH is also included.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f68db2dbfddf00530a57d608d64e4fc
https://doi.org/10.1158/1055-9965.22436743
https://doi.org/10.1158/1055-9965.22436743
Autor:
Maria M. Sasiadek, Lukasz Laczmanski, Nikolaus Blin, Zygmunt Grzebieniak, Marek Bebenek, Joanna Kozlowska, Blazej Misiak, David Ramsey, Elzbieta Szmida, Michael Walter, Pawel Karpinski
Background: Most recent genome-wide studies on the CpG island methylation in colorectal cancer (CRC) have led to the discovery of at least 3 distinct methylation clusters. However, there remains an uncertainty whether the CRC clusters identified in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac73a75a49708b5b7f6af8fb837e5a66
https://doi.org/10.1158/1055-9965.c.6515566.v1
https://doi.org/10.1158/1055-9965.c.6515566.v1
Autor:
Piotr Sieroszewski, Olga Haus, Mariusz Zimmer, Miroslaw Wielgos, Anna Latos-Bielenska, Maciej Borowiec, Dariusz Borowski, Wojciech Cnota, Bartosz Czuba, Mariusz Dubiel, Lucjusz Jakubowski, Katarzyna Janiak, Piotr Kaczmarek, Sebastian Kwiatkowski, Beata Nowakowska, Marek Pietryga, Krzysztof Piotrowski, Krzysztof Preis, Mariola Ropacka-Lesiak, Maria M. Sasiadek, Malgorzata Swiatkowska-Freud, Piotr Wegrzyn, Agata Wloch, Hanna Moczulska
Publikováno v:
Ginekologia polska.
Autor:
Justyna Paprocka, Maria M. Sasiadek, Małgorzata Rydzanicz, Robert Smigiel, Mateusz Biela, Agnieszka Pollak, Rafał Płoski, Magdalena Klaniewska, Monika Gos, Ewelina Wolańska, Maria Jędrzejowska, Emilia Dębek
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. The recessive PIEZO2 loss-of-function pathogenic variants are associated
Autor:
Maria M. Sasiadek, Izabela Laczmanska
Publikováno v:
Journal of Applied Genetics
Protein tyrosine phosphatase receptor type J (PTPRJ, DEP1) is a tumour suppressor gene that negatively regulates such processes as angiogenesis, cell proliferation and migration and is one of the genes important for tumour development. Similar to oth
Autor:
Małgorzata Rydzanicz, Peter J. Brophy, Joanna Kosińska, Anna Biernacka, Robert Smigiel, Dorota Mikolajkow, Barbara Królak-Olejnik, Maria M. Sasiadek, Diane L. Sherman, Anna Walczak, Witalij Andrzejewski, Rafał Płoski, Paweł Krajewski, Maria Boczar, Malgorzata Marciniak, Piotr Gasperowicz, Piotr Stawiński
Publikováno v:
Human Molecular Genetics
Smigiel, R, Sherman, D L, Rydzanicz, M, Walczak, A, Mikolajkow, D, Krolak-Olejnik, B, Kosinska, J, Gasperowicz, P, Biernacka, A, Stawinski, P, Marciniak, M, Andrzejewski, W, Boczar, M, Krajewski, P, Sasiadek, M M, Brophy, P J & Ploski, R 2018, ' Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia ', Human Molecular Genetics, vol. 27, no. 21, pp. 3669–3674 . https://doi.org/10.1093/hmg/ddy277
Smigiel, R, Sherman, D L, Rydzanicz, M, Walczak, A, Mikolajkow, D, Krolak-Olejnik, B, Kosinska, J, Gasperowicz, P, Biernacka, A, Stawinski, P, Marciniak, M, Andrzejewski, W, Boczar, M, Krajewski, P, Sasiadek, M M, Brophy, P J & Ploski, R 2018, ' Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia ', Human Molecular Genetics, vol. 27, no. 21, pp. 3669–3674 . https://doi.org/10.1093/hmg/ddy277
The Neurofascins (NFASCs) are a family of proteins encoded by alternative transcripts of NFASC that cooperate in the assembly of the node of Ranvier in myelinated nerves. Differential expression of NFASC in neurons and glia presents a remarkable exam
Autor:
Tu, Nguyen-Dumont, Pawel, Karpinski, Maria M, Sasiadek, Hayane, Akopyan, Jason A, Steen, Derrick, Theys, Fleur, Hammet, Helen, Tsimiklis, Daniel J, Park, Bernard J, Pope, Ryszard, Slezak, Agnieszka, Stembalska, Karolina, Pesz, Nataliya, Kitsera, Aleksandra, Siekierzynska, Melissa C, Southey, Aleksander, Myszka
Publikováno v:
Genetics Research
Purpose To characterize the spectrum of BRCA1 and BRCA2 pathogenic germline variants in women from south-west Poland and west Ukraine affected with breast or ovarian cancer. Testing in women at high risk of breast and ovarian cancer in these regions
Autor:
Joanna Kosińska, Małgorzata Rydzanicz, Robert Smigiel, Rafał Płoski, Agnieszka Pollak, Piotr Stawiński, Ryszard Slezak, Maria M. Sasiadek
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Background The genetic etiology of intellectual and psychomotor disability without a defined spectrum of dysmorphic features is usually monogenic. As no diagnostic criteria for such diseases are established, the clinical diagnosis becomes to be a cha