Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

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 morphology including large nuclear-spanning channels in p...

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Autores principales:	Boris Fichtman, Fadia Zagairy, Nitzan Biran, Yiftah Barsheshet, Elena Chervinsky, Ziva Ben Neriah, Avraham Shaag, Michael Assa, Orly Elpeleg, Amnon Harel, Ronen Spiegel
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/7b3e738eaaa1487c9dd54b6c727f0181
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spelling	oai:doaj.org-article:7b3e738eaaa1487c9dd54b6c727f01812021-12-02T16:58:24ZCombined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy10.1038/s41467-019-08493-72041-1723https://doaj.org/article/7b3e738eaaa1487c9dd54b6c727f01812019-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-08493-7https://doaj.org/toc/2041-1723Nuclear 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 morphology including large nuclear-spanning channels in patients’ fibroblasts.Boris FichtmanFadia ZagairyNitzan BiranYiftah BarsheshetElena ChervinskyZiva Ben NeriahAvraham ShaagMichael AssaOrly ElpelegAmnon HarelRonen SpiegelNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Boris Fichtman Fadia Zagairy Nitzan Biran Yiftah Barsheshet Elena Chervinsky Ziva Ben Neriah Avraham Shaag Michael Assa Orly Elpeleg Amnon Harel Ronen Spiegel Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
description	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 morphology including large nuclear-spanning channels in patients’ fibroblasts.
format	article
author	Boris Fichtman Fadia Zagairy Nitzan Biran Yiftah Barsheshet Elena Chervinsky Ziva Ben Neriah Avraham Shaag Michael Assa Orly Elpeleg Amnon Harel Ronen Spiegel
author_facet	Boris Fichtman Fadia Zagairy Nitzan Biran Yiftah Barsheshet Elena Chervinsky Ziva Ben Neriah Avraham Shaag Michael Assa Orly Elpeleg Amnon Harel Ronen Spiegel
author_sort	Boris Fichtman
title	Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
title_short	Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
title_full	Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
title_fullStr	Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
title_full_unstemmed	Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy
title_sort	combined loss of lap1b and lap1c results in an early onset multisystemic nuclear envelopathy
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/7b3e738eaaa1487c9dd54b6c727f0181
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Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

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