Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Fadia, Zagairy"'
Autor:
Boris Fichtman, Fadia Zagairy, Nitzan Biran, Yiftah Barsheshet, Elena Chervinsky, Ziva Ben Neriah, Avraham Shaag, Michael Assa, Orly Elpeleg, Amnon Harel, Ronen Spiegel
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nuclear envelopathies are a group of diseases caused by genetic mutations in essential nuclear envelope genes. Here, the authors report a nuclear envelopathy with a homozygous nonsense variant in TOR1AIP1 which leads to changes in the nuclear morphol
Externí odkaz:
https://doaj.org/article/7b3e738eaaa1487c9dd54b6c727f0181
Autor:
Eran Cohen‐Barak, Hagit Toledano‐Alhadef, Nada Danial‐Farran, Ido Livneh, Banan Mwassi, Maysa Hriesh, Fadia Zagairy, Chen Gafni‐Amsalem, Husam Bashir, Morad Khayat, Nassim Warrour, Osnat Sher, Daphna Marom, Sergey Postovsky, Tal Dujovny, Michael Ziv, Stavit A. Shalev
Publikováno v:
Experimental Dermatology. 31:775-780
Neurofibromatosis 1 (NF1) is caused by germline mutations in the NF1 gene and manifests as proliferation of various tissues, including plexiform neurofibromas. The plexiform neurofibroma phenotype varies from indolent to locally aggressive, suggestin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d53c3f7858140003fb986693027ca7
https://doi.org/10.1111/exd.14514
https://doi.org/10.1111/exd.14514
Autor:
Tamar Koren, Fadia Zagairy, Yasmin Tatour, Hila Belhanes‐Peled, Morad Khayat, Judit Krausz, Nada Danial‐Farran, Michael Ziv, Eran Cohen‐Barak
Publikováno v:
Experimental dermatologyREFERENCES. 31(12)
Inherited epidermolysis bullosa (EB) simplex is a heterogeneous group of skin fragility disorders caused by mutations in genes encoding cell-cell or cell-matrix adhesion proteins. A recently identified, rare subtype of EB simplex is due to bi-allelic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cec560269b44bcfbcb196cf9f0a0dc
https://pubmed.ncbi.nlm.nih.gov/35960249
https://pubmed.ncbi.nlm.nih.gov/35960249
Autor:
Eran, Cohen-Barak, Nada, Danial-Farran, Elana, Chervinsky, Ola, Alimi-Kasem, Fadia, Zagairy, Ido, Livneh, Bannan, Mawassi, Maysa, Hreish, Morad, Khayat, Alexander, Lossos, Vardiella, Meiner, Nina, Ehilevitch, Karin, Weiss, Stavit, Shalev
Publikováno v:
Journal of medical genetics.
Monogenic neurodegenerative diseases represent a heterogeneous group of disorders caused by mutations in genes involved in various cellular functions including autophagy, which mediates degradation of cytoplasmic contents by their transport into lyso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6171447e2629937ed8c34e6283dc2eb6
https://pubmed.ncbi.nlm.nih.gov/35710109
https://pubmed.ncbi.nlm.nih.gov/35710109
Autor:
Eran Cohen‐Barak, Bannan Mwassi, Fadia Zagairy, Nada Danial‐Farran, Morad Khayat, Yasmin Tatour, Michael Ziv
Publikováno v:
The Journal of dermatologyREFERENCES. 49(3)
Ichthyosis and deafness syndrome is a group of devastating genodermatoses caused by heterozygous mutations in GJB2, encoding the gap junction protein connexin 26. These syndromes are characterized by severe skin disease, hearing loss, recurrent infec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5705948bbdc8e703bd038cc03943b7
https://pubmed.ncbi.nlm.nih.gov/34889473
https://pubmed.ncbi.nlm.nih.gov/34889473
Autor:
Michael Assa, Fadia Zagairy, Ronen Spiegel, Orly Elpeleg, Ziva Ben Neriah, Nitzan Biran, Amnon Harel, Boris Fichtman, Avraham Shaag, Elena Chervinsky, Yiftah Barsheshet
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nature Communications
Nature Communications
Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af6c4872854e888e8de4e827c0ab22a
http://link.springer.com/article/10.1038/s41467-019-08493-7
http://link.springer.com/article/10.1038/s41467-019-08493-7
Pathogenic Variants in NUP214 Cause 'Plugged' Nuclear Pore Channels and Acute Febrile Encephalopathy
Autor:
Nitzan Biran, Ciro Leonardo Pierri, Somaya Salah, Carolyn D. Applegate, Orly Elpeleg, Boris Fichtman, Tal Gilboa, Giuseppe Punzi, Avraham Shaag, Yuval Salzberg, Ada Hamosh, Nara Sobreira, Houriya Ayoubieh, Amnon Harel, Natalia Simanovsky, Fadia Zagairy, Tamar Harel, Simon Edvardson
Publikováno v:
American journal of human genetics. 105(1)
We report biallelic missense and frameshift pathogenic variants in the gene encoding human nucleoporin NUP214 causing acute febrile encephalopathy. Clinical symptoms include neurodevelopmental regression, seizures, myoclonic jerks, progressive microc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43bf946d8302cef3220cdfe7dda6ebde
https://pubmed.ncbi.nlm.nih.gov/31178128
https://pubmed.ncbi.nlm.nih.gov/31178128
Publikováno v:
eLS
The nuclear pore complex (NPC) is an essential gateway between the cell nucleus and the cytoplasm. The NPC is formed by multiple copies of ∼30 different proteins called nucleoporins, which can be divided into scaffold, membrane-anchored and barrier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acbab49bd281ef3ba0c8de197d81043d
https://doi.org/10.1002/9780470015902.a0026034
https://doi.org/10.1002/9780470015902.a0026034