SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

Satoshi Narumi, Naoko Amano, Tomohiro Ishii, +36

Nature Genetics

Mendelian DisorderGenetic DisorderMirage SyndromeGeneticsSamd9 Mutations +7

In Vivo Determination of Replication Origins of Human Mitochondrial DNA by Ligation-mediated Polymerase Chain Reaction

Dongchon Kang, Kenichi Miyako, Yoichiro Kai, +2

Journal of Biological Chemistry

Association studies of CTLA-4 , CD28 , and ICOS gene polymorphisms with type 1 diabetes in the Japanese population

Kenji Ihara, Saifuddin Ahmed, Futoshi Nakao, +8

Immunogenetics

Type 1Genetic DeterminantAutoimmune DiseaseGeneticsDiabetes +9

PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children

Ronghua Ni, Kenji Ihara, Kenichi Miyako, +4

Human Genetics

Metabolic SyndromeType 1Japanese ChildrenGenetic DeterminantAutoimmune Disease +8

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

Junya Fujimura, Kandai Nozu, Tomohiko Yamamura, +14

Kidney International Reports

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited

Tomohiro Ishii, Toshihiro Tajima, Kenichi Kashimada, +8

The Journal of Clinical Endocrinology & Metabolism

Age-Related Clinical Characteristics of Isolated Congenital Unilateral Absence of a Pulmonary Artery

Hiroshi Koga, Tomoko Hidaka, Kenichi Miyako, +2

Pediatric Cardiology

Pulmonary ArteryPediatricsAge-related Clinical CharacteristicsCongenital Heart DefectPulmonary Medicine +3

The Content of Intracellular Mitochondrial DNA Is Decreased by 1-Methyl-4-phenylpyridinium Ion (MPP+)

Kenichi Miyako, Yoichiro Kai, Takashi Irie, +2

Journal of Biological Chemistry

Vitamin D deficiency rickets caused by improper lifestyle in Japanese children

Kenichi Miyako, Saori Kinjo, Hitoshi Kohno

Pediatrics International

1‐Methyl‐4‐phenylpyridinium ion (MPP⁺) selectively inhibits the replication of mitochondrial DNA

Kenichi Miyako, Takashi Irie, Tsuyoshi Muta, +5

European Journal of Biochemistry