Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Mateusz, Dawidziuk"'
Autor:
Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Katarzyna Woźniak, Justyna Sawicka, Adrianna Mika, Anna Kutkowska-Kaźmierczak, Katarzyna Niepokój, Agnieszka Sobczyńska-Tomaszewska, Bartłomiej Wawrzycki, Aldona Pietrzak, Robert Śmigiel, Bartosz Wojtaś, Bartłomiej Gielniewski, Alicja Szabelska-Beresewicz, Joanna Zyprych-Walczak, Agnieszka Magdalena Rygiel, Alicja Domaszewicz, Natalia Braun-Walicka, Alicja Grabarczyk, Sylwia Rzońca-Niewczas, Ruszkowska Lidia, Mateusz Dawidziuk, Dominik Domański, Tomasz Gambin, Monika Jackiewicz, Katarzyna Duk, Barbara Dorożko, Orest Szczygielski, Natalia Krześniak, Bartłomiej H Noszczyk, Ewa Obersztyn, Jolanta Wierzba, Artur Barczyk, Jennifer Castaneda, Anna Eckersdorf-Mastalerz, Anna Jakubiuk-Tomaszuk, Paweł Własienko, Ilona Jaszczuk, Aleksandra Jezela-Stanek, Jakub Klapecki, Michel van Geel, Cezary Kowalewski, Jerzy Bal, Antoni Gostyński
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms
Externí odkaz:
https://doaj.org/article/fa4b27d36ae94c2aad70ecdc21678bb1
Autor:
Elizabeth A. Werren, Emily R. Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K. L. I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas
Publikováno v:
Cell Death and Disease, Vol 15, Iss 5, Pp 1-15 (2024)
Abstract CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functions o
Externí odkaz:
https://doaj.org/article/08dbba4aad0f4fdba2b94ba2c9076513
Autor:
Slawomir Bartoszewski, Mateusz Dawidziuk, Natalia Kasica, Roma Durak, Marta Jurek, Aleksandra Podwysocka, Dorothy Lys Guilbride, Piotr Podlasz, Cecilia Lanny Winata, Pawel Gawlinski
Publikováno v:
Cells, Vol 11, Iss 17, p 2727 (2022)
Microcephaly presents in neurodevelopmental disorders with multiple aetiologies, including bi-allelic mutation in TUBGCP2, a component of the biologically fundamental and conserved microtubule-nucleation complex, γ-TuRC. Elucidating underlying princ
Externí odkaz:
https://doaj.org/article/4a4193fc1999410ca89e827cc31ceebc
Autor:
Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski
Publikováno v:
JCRPE, Vol 11, Iss 3, Pp 319-326 (2019)
Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an
Externí odkaz:
https://doaj.org/article/4821a089932b4c249ada1740274433f5
Autor:
Elżbieta Kaja, Adrian Lejman, Dawid Sielski, Mateusz Sypniewski, Tomasz Gambin, Mateusz Dawidziuk, Tomasz Suchocki, Paweł Golik, Marzena Wojtaszewska, Magdalena Mroczek, Maria Stępień, Joanna Szyda, Karolina Lisiak-Teodorczyk, Filip Wolbach, Daria Kołodziejska, Katarzyna Ferdyn, Maciej Dąbrowski, Alicja Woźna, Marcin Żytkiewicz, Anna Bodora-Troińska, Waldemar Elikowski, Zbigniew J. Król, Artur Zaczyński, Agnieszka Pawlak, Robert Gil, Waldemar Wierzba, Paula Dobosz, Katarzyna Zawadzka, Paweł Zawadzki, Paweł Sztromwasser
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 9; Pages: 4532
Although Slavic populations account for over 4.5% of world inhabitants, no centralised, open-source reference database of genetic variation of any Slavic population exists to date. Such data are crucial for clinical genetics, biomedical research, as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42a1887cb00a98cec4f84bc794c5c6e
Autor:
Mateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Ewelina Bukowska-Olech, Marta Jurek, Ewa Kalka, Dorothy Lys Guilbride, Mariusz Ireneusz Furmanek, Monika Bekiesinska-Figatowska, Jerzy Bal, Pawel Gawlinski
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 23, Iss 692, p 692 (2022)
International Journal of Molecular Sciences, Vol 23, Iss 692, p 692 (2022)
Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser–Winter Syndrome (B-WS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d873de26f98cc197d58f5324f95f534b
http://europepmc.org/articles/PMC8776155
http://europepmc.org/articles/PMC8776155
Autor:
Agnieszka Charzewska, Iwona Terczyńska, Agata Lipiec, Tomasz Mazurczak, Paulina Górka-Skoczylas, Róża Szlendak, Karolina Kanabus, Renata Tataj, Mateusz Dawidziuk, Bartosz Wojtaś, Bartłomiej Gielniewski, Jerzy Bal, Elżbieta Stawicka, Dorota Hoffman-Zacharska
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 2; Pages: 1117
Studies conducted on large populations show a lack of connection between vaccination and serious neurological symptoms. However, there are isolated cases that indicate such a relationship. These reports on adverse effects following immunization (AEFI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45ebdf78cd39094a39efc7cd1d289a1f
https://doi.org/10.3390/ijms24021117
https://doi.org/10.3390/ijms24021117
Autor:
Mateusz Dawidziuk, Tomasz Gambin, Ewelina Bukowska-Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesinska-Figatowska, Pawel Gawlinski, Wojciech Wiszniewski
Publikováno v:
Genes, Vol 12, Iss 2014, p 2014 (2021)
Genes
Genes; Volume 12; Issue 12; Pages: 2014
Genes
Genes; Volume 12; Issue 12; Pages: 2014
Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c49235a178642e6a9b948f676cbdde21
https://www.mdpi.com/2073-4425/12/12/2014
https://www.mdpi.com/2073-4425/12/12/2014
Autor:
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczałuba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Rafał Płoski, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
Publikováno v:
Genes, Vol 12, Iss 1257, p 1257 (2021)
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::b1614593f5219aa4700ebe069032ed0f
https://www.mdpi.com/2073-4425/12/8/1257
https://www.mdpi.com/2073-4425/12/8/1257
Autor:
Dawid Sielski, Agnieszka Pawlak, Filip Wolbach, Daria Kołodziejska, Karolina Lisiak-Teodorczyk, Katarzyna Ferdyn, Artur Zaczyński, Waldemar Elikowski, Marcin Żytkiewicz, Pawel Zawadzki, Robert J. Gil, Paula Dobosz, Mateusz Dawidziuk, Zbigniew Król, Elżbieta Kaja, Pawel Golik, Adrian Lejman, Mateusz Sypniewski, Tomasz Suchocki, Katarzyna Zawadzka, Maria Stępień, Paweł Sztromwasser, Anna Bodora-Troińska, Alicja Woźna, Joanna Szyda, Marzena Wojtaszewska, Tomasz Gambin, Waldemar Wierzba
Although Slavic populations account for over 3.5% of world inhabitants, no centralized, open source reference database of genetic variation of any Slavic population exists to date. Such data are crucial for either biomedical research and genetic coun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee6c40c229e6fdeaa3cf41a8a701825c
https://doi.org/10.1101/2021.07.07.451425
https://doi.org/10.1101/2021.07.07.451425
