Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Patrycja, Juchniewicz"'
Autor:
Patrycja Juchniewicz, Ewa Piotrowska, Anna Kloska, Magdalena Podlacha, Jagoda Mantej, Grzegorz Węgrzyn, Stefan Tukaj, Joanna Jakóbkiewicz-Banecka
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4514 (2021)
Through the use of new genomic and metabolomic technologies, our comprehension of the molecular and biochemical etiologies of genetic disorders is rapidly expanding, and so are insights into their varying phenotypes. Dosage compensation (lyonization)
Externí odkaz:
https://doaj.org/article/d6cf44ee805e4d8495772874d3007668
Autor:
Patrycja Juchniewicz, Anna Kloska, Karolina Portalska, Joanna Jakóbkiewicz-Banecka, Grzegorz Węgrzyn, Joanna Liss, Piotr Głodek, Stefan Tukaj, Ewa Piotrowska
Publikováno v:
Chromosome Research. 31
Female somatic X-chromosome inactivation (XCI) balances the X-linked transcriptional dosages between the sexes, randomly silencing the maternal or paternal X chromosome in each cell of 46,XX females. Skewed XCI toward one parental X has been observed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::004a05cea16a7129509181729bd77cfd
https://doi.org/10.1007/s10577-023-09717-9
https://doi.org/10.1007/s10577-023-09717-9
Autor:
Anna Kloska, Grzegorz Węgrzyn, Jagoda Mantej, Patrycja Juchniewicz, Magdalena Podlacha, Stefan Tukaj, Ewa Piotrowska, Joanna Jakóbkiewicz-Banecka
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4514, p 4514 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Through the use of new genomic and metabolomic technologies, our comprehension of the molecular and biochemical etiologies of genetic disorders is rapidly expanding, and so are insights into their varying phenotypes. Dosage compensation (lyonization)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2179798898f42c61825bb6eeafb6e473
https://www.mdpi.com/1422-0067/22/9/4514
https://www.mdpi.com/1422-0067/22/9/4514
Autor:
Patrycja Juchniewicz, Grzegorz Węgrzyn, Anna Kloska, Anna Tylki-Szymańska, Magdalena Gabig-Cimińska, Joanna Jakóbkiewicz-Banecka, Marta Moskot, Ewa Piotrowska
Publikováno v:
Gene. 641
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (GLA). Once it was thought to affect only hemizygous males. Over the last fifteen years, research has shown that most female
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc8674857a5831f8348c37641d2674b
https://pubmed.ncbi.nlm.nih.gov/29079200
https://pubmed.ncbi.nlm.nih.gov/29079200
Autor:
Ewa, Kapińska, Joanna, Wysocka, Lidia, Cybulska, Krzysztof, Rebała, Patrycja, Juchniewicz, Zofia, Szczerkowska
Publikováno v:
Archiwum medycyny sadowej i kryminologii. 62(3)
Besides autosomal STR loci, markers of sex chromosomes, X and Y, are increasingly more commonly used in genetic analyses aiming at paternity testing or personal identification. The paper presents cases in which analysis of microsatellite loci of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a2f263ef8c8dcd0afa4fce04ea2897a4
https://pubmed.ncbi.nlm.nih.gov/23650839
https://pubmed.ncbi.nlm.nih.gov/23650839