Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disabi...
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
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Author / Creator
Werren, Elizabeth A. , Peirent, Emily R. , Jantti, Henna , Guxholli, Alba , Srivastava, Kinshuk Raj , Orenstein, Naama , Narayanan, Vinodh , Wiszniewski, Wojciech , Dawidziuk, Mateusz , Gawlinski, Pawel , Umair, Muhammad , Khan, Amjad , Khan, Shahid Niaz , Geneviève, David , Lehalle, Daphné , van Gassen, K. L. I. , Giltay, Jacques C. , Oegema, Renske , van Jaarsveld, Richard H. , Rafiullah, Rafiullah , Rappold, Gudrun A. , Rabin, Rachel , Pappas, John G. , Wheeler, Marsha M. , Bamshad, Michael J. , Tsan, Yao-Chang , Johnson, Matthew B. , Keegan, Catherine E. , Srivastava, Anshika and Bielas, Stephanie L.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
CSMD1
(
Cub and Sushi Multiple Domains 1
) is a well-recognized regulator of the complement cascade, an important component of the innate immune response.
CSMD1
is highly expressed in the central nervous system (CNS) where emergent functions of the complement pathway modulate neural development and synaptic activity. While a genetic...
Alternative Titles
Full title
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Authors, Artists and Contributors
Author / Creator
Peirent, Emily R.
Jantti, Henna
Guxholli, Alba
Srivastava, Kinshuk Raj
Orenstein, Naama
Narayanan, Vinodh
Wiszniewski, Wojciech
Dawidziuk, Mateusz
Gawlinski, Pawel
Umair, Muhammad
Khan, Amjad
Khan, Shahid Niaz
Geneviève, David
Lehalle, Daphné
van Gassen, K. L. I.
Giltay, Jacques C.
Oegema, Renske
van Jaarsveld, Richard H.
Rafiullah, Rafiullah
Rappold, Gudrun A.
Rabin, Rachel
Pappas, John G.
Wheeler, Marsha M.
Bamshad, Michael J.
Tsan, Yao-Chang
Johnson, Matthew B.
Keegan, Catherine E.
Srivastava, Anshika
Bielas, Stephanie L.
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_08dbba4aad0f4fdba2b94ba2c9076513
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_08dbba4aad0f4fdba2b94ba2c9076513
Other Identifiers
ISSN
2041-4889
E-ISSN
2041-4889
DOI
10.1038/s41419-024-06768-6
