Kohji Kato

7PUBLICATIONS
60CO-AUTHORS
Genome structure and regulationZoology not elsewhere classifiedInstrumental methods (excl. immunological and bioassay methods)Molecular targetsMedical molecular engineering of nucleic acids and proteins
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Publications (7)

|Jul 02, 2025
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

Kohji Kato, Yosuke Nishio, Kirsty J McMillan

|Sep 16, 2022
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.

Shiomi Otsuji, Yosuke Nishio, Maki Tsujita

|Dec 23, 2020
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.

Yasuyoshi Oka, Motoharu Hamada, Yuka Nakazawa

|Nov 01, 2020
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.

Kohji Kato, Fuyuki Miya, Yasuyoshi Oka

|Oct 21, 2020
Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.

Kohji Kato, Seiji Mizuno, Jenny Morton

|Jan 25, 2020
Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.

Tadashi Nagata, Masaki Matsushita, Kenichi Mishima

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Frequent Collaborators

4 joint publications

Tomoo Ogi

3 joint publications

Shinji Saitoh

2 joint publications

Peter J Cullen

2 joint publications

Yosuke Nishio