Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Amatzia Dreifuss"'
Autor:
Tikva Shore, Tgst Levi, Rachel Kalifa, Amatzia Dreifuss, Dina Rekler, Ariella Weinberg-Shukron, Yuval Nevo, Tzofia Bialistoky, Victoria Moyal, Merav Yaffa Gold, Shira Leebhoff, David Zangen, Girish Deshpande, Offer Gerlitz
Publikováno v:
eLife, Vol 11 (2022)
We recently identified a missense mutation in Nucleoporin107 (Nup107; D447N) underlying XX-ovarian-dysgenesis, a rare disorder characterized by underdeveloped and dysfunctional ovaries. Modeling of the human mutation in Drosophila or specific knockdo
Externí odkaz:
https://doaj.org/article/d56caaf475a2444e90d005ff813696b5
Autor:
Tgst Levi, Tikva Shore, Rachel Kalifa, Amatzia Dreifuss, Dina Rekler, Ariella Weinberg-Shukron, Yuval Nevo, Tzofia Bialistoky, Victoria Moyal, Merav Yaffa Gold, Shira Leebhoff, David Zangen, Girish Deshpande, Offer Gerlitz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e69cc70443d29dbf57bc0e223c673f8a
https://doi.org/10.7554/elife.72632.sa2
https://doi.org/10.7554/elife.72632.sa2
Autor:
Sharon Zeligson, Ephrat Levy-Lahad, Orit Lobel, Ariella Weinberg-Shukron, Michal Goldberg, Mary-Claire King, David Zangen, Tikva Shore, Mariana Rachmiel, Paul Renbaum, Suleyman Gulsuner, Rachel Kalifa, Offer Gerlitz, Amatzia Dreifuss, Tom Walsh, Avital Ben-Moshe, Reeval Segel
Publikováno v:
Yearbook of Paediatric Endocrinology.
The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 protein levels and an impaired response to DNA dama
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef06552f86c30d40f9f9abea232faed
https://doi.org/10.1530/ey.16.6.4
https://doi.org/10.1530/ey.16.6.4
Autor:
Ephrat Levy-Lahad, Noa Maatuk, Ziva Ben-Neriah, Offer Gerlitz, Ariella Weinberg-Shukron, David Zangen, Paul Renbaum, Amatzia Dreifuss, Dina Rekler, Sharon Zeligson, Abraham O. Samson, Amal Abu-Rayyan, Rachel Kalifa, Moien Kanaan, Nilly Fardian
Publikováno v:
The Journal of clinical investigation. 125(11)
Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16b5d081a68ca6c7f647534767dd930a
https://pubmed.ncbi.nlm.nih.gov/26485282
https://pubmed.ncbi.nlm.nih.gov/26485282