Natsuko Yamazaki
Osaka, Japan
Last Updated: 09/26/2026
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Found 8 publications
Sibling cases of congenital hypogonadotropic hypogonadism harboring compound heterozygous KISS1R variants.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: September 23, 2025
A lipidation inhibitor rescues impaired neurite outgrowth caused by the CDC42 mutation associated with Takenouchi-Kosaki syndrome in Neuro2A cells.
Journal: Brain & development
Published: April 29, 2025
A case of congenital hypopituitarism harboring a nonsense variant in the LHX4 gene.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: January 14, 2025
Modelling Takenouchi-Kosaki syndrome using disease-specific iPSCs.
Journal: Stem cell research
Published: May 01, 2023
Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells.
Journal: Scientific reports
Published: March 12, 2021
Transglutaminase 2-dependent deamidation of glyceraldehyde-3-phosphate dehydrogenase promotes trophoblastic cell fusion.
Journal: The Journal of biological chemistry
Published: December 31, 2013
Rock-dependent calponin 3 phosphorylation regulates myoblast fusion.
Journal: Experimental cell research
Published: August 01, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026