Acrofacial Dysostosis Nager Type Latest Advances

In silico analysis identified potential interaction between glutathione and spliceosome in Nager Syndrome.

Journal: Free radical biology & medicine

Published: May 29, 2025

PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome.

Journal: Birth defects research

Published: May 29, 2025

The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.

Journal: The Journal of craniofacial surgery

Published: March 25, 2025

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Journal: The Journal of craniofacial surgery

Published: March 03, 2025

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.

Journal: Molecular syndromology

Published: December 05, 2024

Complete Agenesis of Right Half of Soft Palate-A Case Report.

Journal: Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India

Published: November 18, 2024

Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.

Journal: Disease models & mechanisms

Published: October 23, 2024

Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes.

Journal: The Journal of pediatrics

Published: October 04, 2024

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.

Journal: Developmental dynamics : an official publication of the American Association of Anatomists

Published: May 01, 2024

Sf3b4 mutation in Xenopus tropicalis causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development.

Journal: bioRxiv : the preprint server for biology

Published: February 14, 2024

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.

Journal: bioRxiv : the preprint server for biology

Published: February 08, 2024

Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: December 13, 2023