A mouse model of ZTTK syndrome reveals indispensable SON functions in organ development and hematopoiesis.
Journal
bioRxiv : the preprint server for biology
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187
Informations de publication
Date de publication:
19 Nov 2023
19 Nov 2023
Historique:
pubmed:
28
11
2023
medline:
28
11
2023
entrez:
28
11
2023
Statut:
epublish
Résumé
Rare diseases are underrepresented in biomedical research, leading to insufficient awareness. Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare disease caused by genetic alterations that result in heterozygous loss-of-function of SON. While ZTTK syndrome patients suffer from numerous symptoms, the lack of model organisms hamper our understanding of both SON and this complex syndrome. Here, we developed
Identifiants
pubmed: 38014320
doi: 10.1101/2023.11.19.567732
pmc: PMC10680872
pii:
doi:
Types de publication
Preprint
Langues
eng
Subventions
Organisme : NIDDK NIH HHS
ID : P30 DK072482
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA236911
Pays : United States
Organisme : NIH HHS
ID : K01 OD026527
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA190688
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL168659
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL158875
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001417
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL158800
Pays : United States
Déclaration de conflit d'intérêts
Conflict of interest: The authors have declared that no conflict of interest exists.
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