Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome

Katsunori Fujii, Hirofumi Ohashi, M. Suzuki, +4

Familial Cancer

Ptch2 GeneGeneticsPathologyCancer GeneticsMedicine +3

Activation of the C4 and C2 components of complement by a proteinase in serum bactericidal factor, Ra reactive factor

Yuan Ji, Teizo Fujita, Hiromi Hatsuse, +3

The Journal of Immunology

A New Member of the C1s Family of Complement Proteins Found in a Bactericidal Factor, Ra-Reactive Factor, in Human Serum

Fumio Takada, Yoshinaga Takayama, Hiromi Hatsuse, +1

Biochemical and Biophysical Research Communications

InflammationComplement SystemAllergyAutoimmune DiseaseLaboratory Immunology +10

Human mannose-binding protein is identical to a component of Ra-reactive factor

Misao Matsushita, Akiyoshi Takahashi, Hiromi Hatsuse, +2

Biochemical and Biophysical Research Communications

InflammationHuman Mannose-binding ProteinProtein FunctionSignal TransductionAutoimmune Disease +7

Major component of Ra-reactive factor, a complement-activating bactericidal protein, in mouse serum

Setsunosuke Ihara, Aki Takahashi, Hiromi Hatsuse, +3

The Journal of Immunology

A mouse with a point mutation in plasma membrane Ca2+-ATPase isoform 2 gene showed the reduced Ca2+ influx in cerebellar neurons

Takeshi Ueno, Kohzoh Kameyama, Mihoko Hirata, +6

Neuroscience Research

Ca2+ InfluxSignal TransductionMolecular PhysiologyMolecular NeuroscienceNeurophysiology +12

Presence of a Serine Protease in the Complement-Activating Component of the Complement-Dependent Bactericidal Factor, RaRF, in Mouse Serum

Aki Takahashi, Yoshinaga Takayama, Hiromi Hatsuse, +1

Biochemical and Biophysical Research Communications

Complement SystemAutoimmune DiseaseAllergyPathogenesisImmunology +5

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene

Chise Kato, Kentaro Fujii, Yuto Arai, +6

Familial Cancer

Genome InstabilitySomatic VariantGenetic DisorderGeneticsPathology +6

Gorlin syndrome-induced pluripotent stem cells form medulloblastoma with loss of heterozygosity in PTCH1

Yu Ikemoto, Toshiyuki Miyashita, Michiyo Nasu, +7

Aging

Somatic mosaicism containing double mutations in <i>PTCH1</i> revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome

Yu Ikemoto, Yoshinaga Takayama, Katsunori Fujii, +10

Journal of Medical Genetics