Kohji Kato
Nagoya, Japan
Last Updated: 09/26/2026
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Found 26 publications
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.
Journal: Nature communications
Published: October 17, 2025
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.
Journal: Science translational medicine
Published: July 02, 2025
Mechanism and regulation of cargo entry into the Commander endosomal recycling pathway.
Journal: Nature communications
Published: December 21, 2023
Generalized Verrucosis on a Background of 3C Syndrome Treated With Subcutaneous IgG Supplementation.
Generalized Verrucosis on a Background of 3C Syndrome Treated With Subcutaneous IgG Supplementation.
Journal: JAMA dermatology
Published: October 18, 2023
Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome.
Journal: Cell
Published: January 12, 2023
Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations.
Journal: Bone reports
Published: July 03, 2022
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.
Journal: Journal of medical genetics
Published: April 20, 2022
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 10, 2021
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Journal: Scientific reports
Published: November 24, 2021
Last Updated: 09/26/2026