Kohji Kato

发表

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex

S. Saitoh, Yasuyoshi Oka, H. Kidokoro, 2019, Journal of Medical Genetics.

Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease

N. Matsumoto, S. Saitoh, Yoshiyuki Takahashi, 2019, PloS one.

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

E. van Binsbergen, N. Matsumoto, S. Saitoh, 2022, Journal of Medical Genetics.

Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes

M. Nakanishi, S. Saitoh, Yoshikazu Johmura, 2020, PloS one.

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

N. Kurahashi, S. Saitoh, Kei Ohashi, 2018, Brain and Development.

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Y. Okuno, T. Yonekawa, S. Kojima, 2022, Scientific Reports.

Infants with acute lymphoblastic leukemia and a germline MLL gene are highly curable with use of chemotherapy alone: results from the Japan Infant Leukemia Study Group.

S. Mizutani, K. Horibe, T. Nakahata, 2006, Blood.

A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

S. Saitoh, Yasuyoshi Oka, S. Mizuno, 2020, Journal of Human Genetics.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

T. Tsunoda, K. Nagata, Y. Kanemura, 2018, Journal of Medical Genetics.

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

M. Nagasaki, K. Matsuo, F. Matsuda, 2020, Science advances.

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Y. Okuno, T. Kaname, Toshiyuki Yamamoto, 2019, Journal of Human Genetics.

NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor

Y. Wada, N. Okamoto, T. Ogi, 2020, Epilepsy Research.

Structure of the Commander endosomal trafficking complex linked to X-linked intellectual disability/Ritscher-Schinzel syndrome

Michael D Healy, E. Derivery, P. Cullen, 2023, bioRxiv.

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

J. Morton, A. Lehmann, S. Mizuno, 2020, American journal of medical genetics. Part A.

Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations

T. Ogi, H. Kitoh, Akiko Kitamura, 2022, Bone Reports.

Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome

Michael D Healy, V. J. Planelles-Herrero, E. Derivery, 2023, Cell.

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Y. Okuno, T. Kaname, Toshiyuki Yamamoto, 2019, Journal of Human Genetics.

Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect.

S. Saitoh, Y. Okuno, Yoshiyuki Takahashi, 2020, International journal of cardiology.

Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome

Michael D Healy, V. J. Planelles-Herrero, E. Derivery, 2023, Cell.

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome

K. Kosaki, T. Takenouchi, C. Quélin, 2023, HGG advances.