Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Tetsuya Niihori, Yoko Aoki, Hirofumi Ohashi, +16

Journal of Human Genetics

Signal TransductionSignaling PathwayGenetic DisorderReceptor Tyrosine KinaseMolecular Biology +8

Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population

Yoshifumi Ohnishi, Toshihiro Tanaka, Ryo Yamada, +14

Human Genetics

Genome-wide Association StudyCandidate GenesGenetic DeterminantCardiovascular DiseaseIschemic Heart Disease +9

Effect of omeprazole in the treatment of refractory acid-related diseases in childhood: Endoscopic healing and twenty-four-hour intragastric acidity

Seiichi Kato, Kyoko Ebina, Kunihiro Fujii, +2

The Journal of Pediatrics

Refractory Acid-related DiseasesGastroenterologyPediatricsPediatric GastroenterologyTwenty-four-hour Intragastric Acidity +4

Mutation detection by TaqMan-allele specific amplification: Application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency

Kunihiro Fujii, Yoichi Matsubara, Jun Akanuma, +8

Human Mutation

Molecular DiagnosisGenetic TestingGeneticsMutation DetectionGenetic Epidemiology +20

Adenovirus-Mediated in Utero Gene Transfer in Mice and Guinea Pigs: Tissue Distribution of Recombinant Adenovirus Determined by Quantitative TaqMan–Polymerase Chain Reaction Assay

Masato Senoo, Yoichi Matsubara, Kunihiro Fujii, +7

Molecular Genetics and Metabolism

Utero Gene TransferGuinea PigsRecombinant AdenovirusImmunologyPathology +6

Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells

Jun Akanuma, Toshinori Nishigaki, Kunihiro Fujii, +11

American Journal of Medical Genetics

Molecular DiagnosisShort StatureGeneticsImmunologyPathology +23

Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Shigeo Kure, Ken‐ichi Sato, Kunihiro Fujii, +4

Molecular Genetics and Metabolism

Therapeutic BasisBiochemistryTetrahydrobiopterin SupplementationBiochemical GeneticsMetabolism +1

Reversal of Hypopigmentation in Phenylketonuria Mice by Adenovirus-Mediated Gene Transfer

Yutaka Nagasaki, Yoichi Matsubara, Hideaki Takano, +9

Pediatric Research

Signal TransductionMolecular PhysiologyMolecular BiologyMedicineCell Biology +2

PTHrP‐independent hypercalcemia with increased proinflammatory cytokines and bone resorption in two children with CD19‐negative precursor B acute lymphoblastic leukemia

Hidetaka Niizuma, Kunihiro Fujii, Atsushi Satō, +3

Pediatric Blood & Cancer

Acute Renal Failure Due to Leukemic Cell Infiltration Followed by Relapse at Multiple Extramedullary Sites in a Child with Acute Lymphoblastic Leukemia

Atsushi Satō, Masue Imaizumi, Shuji Chikaoka, +9

Leukemia & lymphoma/Leukemia and lymphoma

Hematological MalignancyUrologyAcute Renal FailurePediatric HematologyMixed-phenotype Acute Leukemia +11