Monoallelic yet combinatorial expression of variable exons of the protocadherin-α gene cluster in single neurons

Shigeyuki Esumi, Naoki Kakazu, Yusuke Taguchi, +7

Nature Genetics

Molecular NeuroscienceSynaptic TransmissionVariable ExonsNeurotransmissionCell Biology +8

Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate‐glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese

Kazuhiro Akaba, Toshiyuki Kimura, Ayako Sasaki, +9

IUBMB Life

Molecular analysis of congenital central hypoventilation syndrome

Ayako Sasaki, Masayo Kanai, Kazuki Kijima, +11

Human Genetics

Genetic DisorderMolecular AnalysisPhysiologyPediatricsScleroderma

Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese

Kazuhiro Akaba, Toshiyuki Kimura, Ayako Sasaki, +7

Journal of Human Genetics

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, +26

npj Genomic Medicine

EngineeringGeneticsDiagnosisPathologyNucleic Acid Amplification Test +24

Genotype–phenotype relationship in Japanese patients with congenital central hypoventilation syndrome

Tomoyuki Shimokaze, Ayako Sasaki, Toru Meguro, +5

Journal of Human Genetics

Genetic DisorderGeneticsGenetic EpidemiologyPediatricsMedical Genetics +4

Neonatal Hyperbilirubinemia in Japanese Neonates: Analysis of the Heme Oxygenase-1 Gene and Fetal Hemoglobin Composition in Cord Blood

Masayo Kanai, Kazuhiro Akaba, Ayako Sasaki, +6

Pediatric Research

Heme Oxygenase-1 GeneJapanese NeonatesHeme DegradationPhysiologyHematology +5

Sudden Infant Death Syndrome Is Not Associated with the Mutation of PHOX2B Gene, a Major Causative Gene of Congenital Central Hypoventilation Syndrome

Kazuki Kijima, Ayako Sasaki, T Niki, +4

The Tohoku Journal of Experimental Medicine

AsthmaSleep DisordersMajor Causative GeneGeneticsGenetic Epidemiology +16

Decreased L‐selectin expression in CD34‐positive cells from patients with chronic myelocytic leukaemia

Kuniko Kawaishi, Akiro Kimura, Osamu Katoh, +4

British Journal of Haematology

Chronic Myelocytic LeukaemiaHematological MalignancyMixed-phenotype Acute LeukemiaL‐selectin ExpressionMalignant Blood Disorder +13

Congenital Central Hypoventilation Syndrome: A Novel Mutation of the RET Gene in an Isolated Case.

Masayo Kanai, Chikahiko Numakura, Ayako Sasaki, +6

The Tohoku Journal of Experimental Medicine

Developmental AnomalyNovel MutationIsolated CaseDevelopmental BiologyIsolated Cchs Patients +13