Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Anna Boguszewska-Chachulska"'
Autor:
Adam Sendecki, Daniel Ledwoń, Aleksandra Tuszy, Julia Nycz, Anna Wąsowska, Anna Boguszewska-Chachulska, Andrzej W. Mitas, Edward Wylęgała, Sławomir Teper
Publikováno v:
Biomedicines, Vol 12, Iss 9, p 2092 (2024)
Background: Age-related macular degeneration (AMD) is a complex eye disorder with an environmental and genetic origin, affecting millions worldwide. The study aims to explore the association between retinal morphology and the polygenic risk score (PR
Externí odkaz:
https://doaj.org/article/2d55f00b08b24cbbb1b3ba1a983e5b37
Autor:
Ewa Matczyńska, Marta Beć-Gajowniczek, Larysa Sivitskaya, Elżbieta Gregorczyk, Przemysław Łyszkiewicz, Robert Szymańczak, Maria Jędrzejowska, Edward Wylęgała, Maciej R. Krawczyński, Sławomir Teper, Anna Boguszewska-Chachulska
Publikováno v:
Biomedicines, Vol 12, Iss 6, p 1355 (2024)
Advances in gene therapy and genome editing give hope that new treatments will soon be available for inherited eye diseases that together affect a significant proportion of the adult population. New solutions are needed to make genetic diagnosis fast
Externí odkaz:
https://doaj.org/article/983efdecb6184a87ae87baa8abda4dfd
Autor:
Adam Sendecki, Daniel Ledwoń, Aleksandra Tuszy, Julia Nycz, Anna Wąsowska, Anna Boguszewska-Chachulska, Adam Wylęgała, Andrzej W. Mitas, Edward Wylęgała, Sławomir Teper
Publikováno v:
Diagnostics, Vol 14, Iss 7, p 770 (2024)
Background: Age-related macular degeneration (AMD) is a multifactorial disease encompassing a complex interaction between aging, environmental risk factors, and genetic susceptibility. The study aimed to determine whether there is a relationship betw
Externí odkaz:
https://doaj.org/article/6114d4155b9b4c4e9cbf96464ef54974
Autor:
Joanna Musialik, Anna Boguszewska-Chachulska, Dorota Pojda-Wilczek, Agnieszka Gorzkowska, Robert Szymańczak, Magdalena Kania, Agata Kujawa-Szewieczek, Małgorzata Wojcieszyn, Marek Hartleb, Andrzej Więcek
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1439 (2020)
Clinical phenotypes of familial hypobetalipoproteinemia (FHBL) are related to a number of defective apolipoprotein B (APOB) alleles. Fatty liver disease is a typical manifestation, but serious neurological symptoms can appear. In this study, genetic
Externí odkaz:
https://doaj.org/article/edede1a962ea42308796683831b6c4e7
Polygenic Risk Score Impact on Susceptibility to Age-Related Macular Degeneration in Polish Patients
Autor:
Anna Wąsowska, Sławomir Teper, Ewa Matczyńska, Przemysław Łyszkiewicz, Adam Sendecki, Anna Machalińska, Edward Wylęgała, Anna Boguszewska-Chachulska
Publikováno v:
Journal of Clinical Medicine; Volume 12; Issue 1; Pages: 295
Age-related macular degeneration (AMD) is a common retina degenerative disease with a complex genetic and environmental background. This study aimed to determine the polygenic risk score (PRS) stratification between the AMD case and control patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9364d701a2ab4a41b640a98cda9be71d
https://pubmed.ncbi.nlm.nih.gov/36615095
https://pubmed.ncbi.nlm.nih.gov/36615095
Autor:
Elżbieta Krytkowska, Zofia Ulańczyk, Aleksandra Grabowicz, Krzysztof Safranow, Miłosz Piotr Kawa, Andrzej Pałucha, Anna Wąsowska, Ewa Matczyńska, Anna Boguszewska-Chachulska, Anna Machalińska
Publikováno v:
Journal of Clinical Medicine; Volume 12; Issue 5; Pages: 1963
The aim of the present study was to analyze the relationship of age-related macular degeneration (AMD) progression with clinical characteristics, demographic, and environmental risk factors that would affect disease development. In addition, the infl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8daf1d2d6ecce04743e5a68b5d93ff
https://doi.org/10.3390/jcm12051963
https://doi.org/10.3390/jcm12051963
Autor:
Marek Hartleb, Robert Szymańczak, Agnieszka Gorzkowska, Dorota Pojda-Wilczek, Andrzej Wiecek, Joanna Musialik, Agata Kujawa-Szewieczek, Anna Boguszewska-Chachulska, Małgorzata Wojcieszyn, Magdalena Kania
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 4
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1439 (2020)
Volume 21
Issue 4
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1439 (2020)
Clinical phenotypes of familial hypobetalipoproteinemia (FHBL) are related to a number of defective apolipoprotein B (APOB) alleles. Fatty liver disease is a typical manifestation, but serious neurological symptoms can appear. In this study, genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::364ffcd79af4c4c86da03d63a04048de
Autor:
Joanna, Musialik, Anna, Boguszewska-Chachulska, Dorota, Pojda-Wilczek, Agnieszka, Gorzkowska, Robert, Szymańczak, Magdalena, Kania, Agata, Kujawa-Szewieczek, Małgorzata, Wojcieszyn, Marek, Hartleb, Andrzej, Więcek
Publikováno v:
International Journal of Molecular Sciences
Clinical phenotypes of familial hypobetalipoproteinemia (FHBL) are related to a number of defective apolipoprotein B (APOB) alleles. Fatty liver disease is a typical manifestation, but serious neurological symptoms can appear. In this study, genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b64516379741e8b05981419ff557f563
https://pubmed.ncbi.nlm.nih.gov/32093271
https://pubmed.ncbi.nlm.nih.gov/32093271
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 587
The development of techniques based on fluorescence has made it possible to create new types of assays that represent an advantageous alternative to old tests relying on radioactivity. Such a novel approach has been applied to develop a high-throughp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2fb048e6537d17ba4611ca91d0fb7f94
https://pubmed.ncbi.nlm.nih.gov/20225152
https://pubmed.ncbi.nlm.nih.gov/20225152