Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Ai...
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement
About this item
Full title
Author / Creator
Naesens, Leslie , Nemegeer, Josephine , Roelens, Filip , Vallaeys, Lore , Meuwissen, Marije , Janssens, Katrien , Verloo, Patrick , Ogunjimi, Benson , Hemelsoet, Dimitri , Hoste, Levi , Roels, Lisa , De Bruyne, Marieke , De Baere, Elfride , Van Dorpe, Jo , Dendooven, Amélie , Sieben, Anne , Rice, Gillian I. , Kerre, Tessa , Beyaert, Rudi , Uggenti, Carolina , Crow, Yanick J. , Tavernier, Simon J. , Maelfait, Jonathan , Haerynck, Filomeen and Program for Undiagnosed Rare Diseases (UD-PrOZA)
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
Background
Aicardi-Goutières syndrome (AGS) is a type I interferonopathy usually characterized by early-onset neurologic regression. Biallelic mutations in
LSM11
and
RNU7-1
, components of the U7 small nuclear ribonucleoprotein (snRNP) complex, have been identified in a limited number of genetically unexplained AGS cases. Impairment...
Alternative Titles
Full title
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement
Authors, Artists and Contributors
Author / Creator
Nemegeer, Josephine
Roelens, Filip
Vallaeys, Lore
Meuwissen, Marije
Janssens, Katrien
Verloo, Patrick
Ogunjimi, Benson
Hemelsoet, Dimitri
Hoste, Levi
Roels, Lisa
De Bruyne, Marieke
De Baere, Elfride
Van Dorpe, Jo
Dendooven, Amélie
Sieben, Anne
Rice, Gillian I.
Kerre, Tessa
Beyaert, Rudi
Uggenti, Carolina
Crow, Yanick J.
Tavernier, Simon J.
Maelfait, Jonathan
Haerynck, Filomeen
Program for Undiagnosed Rare Diseases (UD-PrOZA)
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9402729
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9402729
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-022-01209-5
