Shizuka Ishitani
Osaka, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.
Journal: Journal of human genetics
Published: June 08, 2025
Determining zebrafish dorsal organizer size by a negative feedback loop between canonical/non-canonical Wnts and Tlr4/NFκB.
Journal: Nature communications
Published: January 25, 2023
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.
Journal: Journal of human genetics
Published: November 08, 2020
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 19, 2020
Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
Journal: Scientific reports
Published: October 13, 2019
Cell competition corrects noisy Wnt morphogen gradients to achieve robust patterning in the zebrafish embryo.
Journal: Nature communications
Published: September 03, 2018
Hipk2 and PP1c cooperate to maintain Dvl protein levels required for Wnt signal transduction.
Journal: Cell reports
Published: October 02, 2013
Nemo-like kinase, a multifaceted cell signaling regulator.
Journal: Cellular signalling
Published: August 17, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026