SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing
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SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing

Schürch C;Schaefer T;Müller JS;Hanns P;Arnone M;Dumlin A;Schärer J;Sinning I;Wild K;Skokowa J;Welte K;Carapito R;Bahram S;Konantz M;Lengerke C;;
Blood 2021 Vol. 137 pp. -
161
c2021bloodsrp54

Abstract

Heterozygous de novo missense variants of SRP54 were recently identified in patients with congenital neutropenia (CN) who display symptoms that overlap with Shwachman-Diamond syndrome (SDS). Here, we investigate srp54 knockout zebrafish as the first in vivo model of SRP54 deficiency. srp54-/- zebraf …

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National Center for Biotechnology Information NCBI NLM MEDLINE pubmed abstract nih national institutes of health national library of medicine pmid:33227812 pmc7994924 doi:10.1182/blood.2020008115 christoph schürch thorsten schaefer claudia lengerke

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