TAR Syndrome-associated Rbm8a deficiency causes hematopoietic defects and attenuates Wnt/PCP signaling.

Journal

bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187

Informations de publication

Date de publication:
20 Apr 2023
Historique:
pubmed: 24 4 2023
medline: 24 4 2023
entrez: 24 04 2023
Statut: epublish

Résumé

Defects in blood development frequently occur among syndromic congenital anomalies. Thrombocytopenia-Absent Radius (TAR) Syndrome is a rare congenital condition with reduced platelets (hypomegakaryocytic thrombocytopenia) and forelimb anomalies, concurrent with more variable heart and kidney defects. TAR syndrome associates with hypomorphic gene function for

Identifiants

DOI: 10.1101/2023.04.12.536513 PMID: 37090609 PMC: PMC10120739
pubmed: 37090609
doi: 10.1101/2023.04.12.536513
pmc: PMC10120739
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NIDDK NIH HHS
ID : R01 DK129350
Pays : United States

Déclaration de conflit d'intérêts

Competing financial interests J.A.S. has been a consultant for Sanofi, Takeda, Genentech, CSL Behring, and HEMA Biologics.

Auteurs

Agnese Kocere (A)

Department of Pediatrics, Section of Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Department of Molecular Life Sciences, University of Zürich, Zürich, Switzerland.

Elena Chiavacci (E)

Department of Molecular Life Sciences, University of Zürich, Zürich, Switzerland.

Kevin Manuel Méndez-Acevedo (KM)

Max Delbrück Center (MDC) for Molecular Medicine in the Helmholtz Association, Berlin-Buch, Germany.

Charlotte Soneson (C)

Department of Molecular Life Sciences, University of Zürich, Zürich, Switzerland.
Swiss Institute of Bioinformatics (SIB), University of Zürich, Zürich, Switzerland.

Max S Hiltabidle (MS)

Department of Pediatrics, Section of Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

Azhwar Raghunath (A)

Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.

Jacalyn S MacGowan (JS)

Center for Precision Environmental Health and Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.

Jordan A Shavit (JA)

Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.

Daniela Panáková (D)

Max Delbrück Center (MDC) for Molecular Medicine in the Helmholtz Association, Berlin-Buch, Germany.
University Hospital Schleswig Holstein, Kiel, Germany.
German Centre for Cardiovascular Research (DZHK), partner site Kiel, Germany.

Margot L K Williams (MLK)

Center for Precision Environmental Health and Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA.

Mark D Robinson (MD)

Department of Molecular Life Sciences, University of Zürich, Zürich, Switzerland.
Swiss Institute of Bioinformatics (SIB), University of Zürich, Zürich, Switzerland.

Christian Mosimann (C)

Department of Pediatrics, Section of Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

Alexa Burger (A)

Department of Pediatrics, Section of Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

Classifications MeSH