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Article

A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.

JCI insight - 8 Mar 2024

Vukadin Lana, Park Bohye, Mohamed Mostafa, Li Huashi, Elkholy Amr, Torrelli-Diljohn Alex, Kim Jung-Hyun, Jeong Kyuho, Murphy James M, Harvey Caitlin A, Dunlap Sophia, Gehrs Leah, Lee Hanna, Kim Hyung-Gyoon, Sah Jay Prakash, Lee Seth N, Stanford Denise, Barrington Robert A, Foote Jeremy B, Sorace Anna G, Welner Robert S, Hildreth Blake E, Lim Ssang-Taek Steve, Ahn Eun-Young Erin

Abstract excerpt

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 patients with ZTTK syndrome live with numerous symptoms, the lack of model organisms hampers our understanding of SON and this complex syndrome. Here, we developed Son...

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Identifiers

PMID: 38290089
DOI: 10.1172/jci.insight.175053
PMCID: PMC10972584

Genes

SON

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.PMID 38290089Read ↗

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