Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome
Understanding of the genetic factors and molecular mechanisms underlying neurodevelopmental disorders remains incomplete. In this study, authors show that microdeletions in the gene ANKS1B lead to loss of the neuronal synapse-enriched protein AIDA-1 and to a novel neurodevelopmental syndrome
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Nature Portfolio
2019
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oai:doaj.org-article:ef748cfb4766436a857ff4345e07f5732021-12-02T16:58:24ZHaploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome10.1038/s41467-019-11437-w2041-1723https://doaj.org/article/ef748cfb4766436a857ff4345e07f5732019-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-11437-whttps://doaj.org/toc/2041-1723Understanding of the genetic factors and molecular mechanisms underlying neurodevelopmental disorders remains incomplete. In this study, authors show that microdeletions in the gene ANKS1B lead to loss of the neuronal synapse-enriched protein AIDA-1 and to a novel neurodevelopmental syndromeAbigail U. CarbonellChang Hoon ChoJaafar O. TindiPamela A. CountsJuliana C. BatesHediye Erdjument-BromageSvetlana CvejicAlana IaboniIfat KvintJenny RosensaftEhud BanneEvdokia AnagnostouThomas A. NeubertStephen W. SchererSophie MolholmBryen A. JordanNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-15 (2019) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Abigail U. Carbonell Chang Hoon Cho Jaafar O. Tindi Pamela A. Counts Juliana C. Bates Hediye Erdjument-Bromage Svetlana Cvejic Alana Iaboni Ifat Kvint Jenny Rosensaft Ehud Banne Evdokia Anagnostou Thomas A. Neubert Stephen W. Scherer Sophie Molholm Bryen A. Jordan Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome |
| description |
Understanding of the genetic factors and molecular mechanisms underlying neurodevelopmental disorders remains incomplete. In this study, authors show that microdeletions in the gene ANKS1B lead to loss of the neuronal synapse-enriched protein AIDA-1 and to a novel neurodevelopmental syndrome |
| format |
article |
| author |
Abigail U. Carbonell Chang Hoon Cho Jaafar O. Tindi Pamela A. Counts Juliana C. Bates Hediye Erdjument-Bromage Svetlana Cvejic Alana Iaboni Ifat Kvint Jenny Rosensaft Ehud Banne Evdokia Anagnostou Thomas A. Neubert Stephen W. Scherer Sophie Molholm Bryen A. Jordan |
| author_facet |
Abigail U. Carbonell Chang Hoon Cho Jaafar O. Tindi Pamela A. Counts Juliana C. Bates Hediye Erdjument-Bromage Svetlana Cvejic Alana Iaboni Ifat Kvint Jenny Rosensaft Ehud Banne Evdokia Anagnostou Thomas A. Neubert Stephen W. Scherer Sophie Molholm Bryen A. Jordan |
| author_sort |
Abigail U. Carbonell |
| title |
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome |
| title_short |
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome |
| title_full |
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome |
| title_fullStr |
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome |
| title_full_unstemmed |
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome |
| title_sort |
haploinsufficiency in the anks1b gene encoding aida-1 leads to a neurodevelopmental syndrome |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/ef748cfb4766436a857ff4345e07f573 |
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1718382364043771904 |