De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic feature...
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
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Author / Creator
Okur, Volkan , Chen, Zefu , Vossaert, Liesbeth , Peacock, Sandra , Rosenfeld, Jill , Zhao, Lina , Du, Haowei , Calamaro, Emily , Gerard, Amanda , Zhao, Sen , Kelsay, Jill , Lahr, Ashley , Mighton, Chloe , Porter, Hillary M. , Siemon, Amy , Silver, Josh , Svihovec, Shayna , Fong, Chin-To , Grant, Christina L. , Lerner-Ellis, Jordan , Manickam, Kandamurugu , Madan-Khetarpal, Suneeta , McCandless, Shawn E. , Morel, Chantal F. , Schaefer, G. Bradley , Berry-Kravis, Elizabeth M. , Gates, Ryan , Gomez-Ospina, Natalia , Qiu, Guixing , Zhang, Terry Jianguo , Wu, Zhihong , Meng, Linyan , Liu, Pengfei , Scott, Daryl A. , Lupski, James R. , Eng, Christine M. , Wu, Nan and Yuan, Bo
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
The histone H3 variant H3.3, encoded by two genes
H3-3A
and
H3-3B
, can replace canonical isoforms H3.1 and H3.2. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment. The role of H3.3 in somatic cancers has been studied extensively, but its association with a congenital disorder has emerged jus...
Alternative Titles
Full title
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
Authors, Artists and Contributors
Author / Creator
Chen, Zefu
Vossaert, Liesbeth
Peacock, Sandra
Rosenfeld, Jill
Zhao, Lina
Du, Haowei
Calamaro, Emily
Gerard, Amanda
Zhao, Sen
Kelsay, Jill
Lahr, Ashley
Mighton, Chloe
Porter, Hillary M.
Siemon, Amy
Silver, Josh
Svihovec, Shayna
Fong, Chin-To
Grant, Christina L.
Lerner-Ellis, Jordan
Manickam, Kandamurugu
Madan-Khetarpal, Suneeta
McCandless, Shawn E.
Morel, Chantal F.
Schaefer, G. Bradley
Berry-Kravis, Elizabeth M.
Gates, Ryan
Gomez-Ospina, Natalia
Qiu, Guixing
Zhang, Terry Jianguo
Wu, Zhihong
Meng, Linyan
Liu, Pengfei
Scott, Daryl A.
Lupski, James R.
Eng, Christine M.
Wu, Nan
Yuan, Bo
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_29cca276969242bdad121202e7d7f164
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_29cca276969242bdad121202e7d7f164
Other Identifiers
ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-021-00268-8
