Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.

Mutsumi Inaba, Ayumi Yawata, Ichiro Koshino, +10

Journal of Clinical Investigation

GeneticsBlood CellPathologyCytoskeletonProband Red Cells +15

An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON)

RS Schwartz, Yoshihito Yawata, K Ata, +4

Blood

A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216)

Akio Kanzaki, M Rabodonirina, Y Yawata, +7

Blood

Ankyrin gene mutations in japanese patients with hereditary spherocytosis

Hidekazu Nakanishi, Akio Kanzaki, Ayumi Yawata, +2

International Journal of Hematology

Ankyrin Gene MutationsGenetic DisorderGeneticsPathogenesisPathology +4

Ethnic distribution of allele a^LELY, a low‐expression allele of red‐cell spectrin a‐gene

J Maréchal, R Wilmotte, Akio Kanzaki, +6

British Journal of Haematology

Immunohistochemical identification of erythroid precursors in paraffin embedded bone marrow sections: spectrin is a superior marker to glycophorin.

Yoshito Sadahira, Akio Kanzaki, Hideho Wada, +1

Journal of Clinical Pathology

A Markedly Disrupted Skeletal Network With Abnormally Distributed Intramembrane Particles in Complete Protein 4.1-Deficient Red Blood Cells (Allele 4.1 Madrid): Implications Regarding a Critical Role of Protein 4.1 in Maintenance of the Integrity of the Red Blood Cell Membrane

Ayumi Yawata, Akio Kanzaki, Florinda Gilsanz, +2

Blood

Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis

Akio Kanzaki, Sandrine Hayette, Laurette Morlé, +9

British Journal of Haematology

Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near‐normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency

Takafumi Inoue, Akio Kanzaki, Mayumi Kaku, +9

British Journal of Haematology

ImmunohematologyPhenotypic ExpressionLysosomal Storage DiseaseGeneticsPathology +21

Late expression of red cell membrane protein 4.2 in normal human erythroid maturation with seven isoforms of the protein 4.2 gene

Hideho Wada, Akio Kanzaki, Ayumi Yawata, +6

Experimental Hematology

Developmental BiologyGeneticsLate ExpressionMedicineCell Biology +3