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Last Updated: 03/06/2025
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Found 134 publications
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
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
Fgf8 contributes to the pathogenesis of Nager syndrome.
Journal: International journal of biological macromolecules
Published: November 17, 2023
Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Journal: Genes
Published: October 29, 2023
Dysregulation of Spliceosomes Complex Induces Retinitis Pigmentosa-Like Characteristics in sf3b4-Depleted Zebrafish.
Journal: The American journal of pathology
Published: March 06, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 29, 2022
First case report of Nager syndrome patient from Georgia.
Journal: SAGE open medical case reports
Published: September 20, 2022
SF3B4 promotes Twist1 expression and clear cell renal cell carcinoma progression by facilitating the export of KLF 16 mRNA from the nucleus to the cytoplasm.
Journal: Cell death & disease
Published: July 14, 2022
SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: March 25, 2022
The Role of Splicing Factor SF3B4 in Congenital Diseases and Tumors.
Journal: Discovery medicine
Published: February 28, 2022
Last Updated: 03/06/2025