Faculty Information - 菅野　仁

Books

Published papers

Academic conference presentation

Education

（Last updated : 2023-09-05 15:05:09）

菅野　仁
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine

Position Professor (Fixed Term)

■ Books

Chapter contribution　

Biochemical and molecular basis of red blood cell pyrimidine 5'-nucleotidase deficiency, Genetic Errors Associated with Purine and Pyrimidine Metabolism in Humans: Diagnosis and Treatment 2006

■ Published papers

1.	Case report	Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity 2022/07/20
2.	Original article	Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations 2020/11
3.	Case report	Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia 2020/09/07
4.	Original article	Molecular Profiles of Breast Cancer in a Single Institution 2020/08
5.	Case report	A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome. 2020/04/13
6.	Original article	Phase I study of cellular therapy using ex vivo expanded NK cell from autologous peripheral blood mononuclear cells combined with rituximab-containing chemotherapy for relapsed CD20-positive malignant lymphoma patients. 2020/04
7.	Case report	Unexplained Late-Onset Hemolytic Jaundice Preceded by High Fetal Hemoglobin Level in an Extremely Low Birth Weight Infant 2020/01
8.	Case report	Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation 2019/11
9.	Case report	P15-5. Ex-vivo expanded NK cell therapy combined with Elotuzumab for MRD after autologous stem cell transplantation - A report of the first case - 2019/05
10.	Original article	Association between SLCO1B1 rs4149056 and tegafur-uracil-induced hepatic dysfunction in breast cancer. 2019/04
11.	Original article	Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. 2019/01
12.	Original article	De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome 2018/09
13.	Case report	Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. 2018/08
14.	Original article	Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. 2018/06
15.	Original article	Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency 2018/02
16.	Original article	In vitro enhancement of ATP in human erythrocytes from a healthy subject and two patients with thalassemia and hemoglobinopathy. 2018
17.	Case report	Five-year Survival After Surgical Removal and Gamma Knife Stereotactic Radiosurgery for a Cerebellar Metastasis from an Esophagogastric Junction Cancer: A Case Report and Literature Review 2017/11
18.	Case report	Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia. 2017/08
19.	Original article	Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. 2017/07
20.	Case report	Discrimination of Diamond-Blackfan anemia from parvovirus B19 infection by RBC glutathione. 2017/07
21.	Case report	A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria 2017/05
22.	Case report	Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing 2017/04
23.	Case report	Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism? 2017/03
24.	Original article	Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia. 2017/03
25.	Case report	Splenectomy resolves hemolytic anemia caused by adenylate kinase deficiency 2017/02
26.	Case report	ive-year Survival After Surgical Removal and Gamma Knife Stereotactic Radiosurgery for a Cerebellar Metastasis from an Esophagogastric Junction Cancer; A Case Report and Literature Review 2017
27.	Case report	Chylous ascites associated with intestinal obstruction from volvulus due to Petersen's hernia: report of case. 2016/12
28.	Case report	PIEZO1 gene mutation in a　Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus. 2016/07
29.	Original article	ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. 2016/05
30.	Original article	Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia. 2016/04
31.	Original article	ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan 2015/11
32.	Original article	Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 2014/11
33.	Original article	Deficiency of nicotinamide mononucleotide adenylyltransferase 3 (nmnat3) causes hemolytic anemia by altering the glycolytic flow in mature erythrocytes. 2014/05
34.	Case report	Human parvovirus B19-induced aplastic crisis in an adult patient with hereditary spherocytosis: a case report and review of the literature. 2014/03
35.	Original article	Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. 2014/03
36.	Case report	A Japanese neonatal case of glucose-6-phosphate dehydrogenase deficiency presenting as severe jaundice and hemolytic anemia without apparent trigger. 2013/09
37.	Original article	Enhanced expression of myogenic differentiation factors and skeletal muscle proteins in human amnion-derived cells via the forced expression of MYOD1 2013/04
38.	Original article	Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. 2012/09
39.	Case report	A case of congenital dyserythropoietic anemia type 1 in a Japanese adult with a CDAN1 gene mutation and an inappropriately low serum hepcidin-25 level. 2012/06
40.	Original article	An SNP in CYP39A1 is associated with severe neutropenia induced by docetaxel. 2012/06
41.	Original article	An SNP in CYP39A1 is associated with severe neutropenia induced by docetaxel. 2012/06
42.	Original article	Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. 2012/03
43.	Original article	PYRUVATE SUPPLEMENTATION ENHANCES VASCULAR ENDOTHELIAL GROWTH FACTOR PRODUCTION BY BONE MARROW-DERIVED MONONUCLEAR CELLS 2012/02
44.	Original article	Comprehensive analysis of genetic polymorphisms and irinotecan-induced adverse events in Japanese gastrointestinal cancer patients:A DMET microarray profiling study. 2012
45.	Original article	Upregulation of tumor necrosis factor receptor 1 and TNF-alpha converting enzyme during corneal wound healing. 2011/12
46.	Original article	High-dose chemotherapy followed by autologous and allogeneic peripheral blood stem cell transplantation for recurrent disseminated trilateral retinoblastoma 2011/06
47.	Original article	Impact of polymorphisms on docetaxel-induced neutropenia in Japanese patients with gynecologic cancer 2011/05
48.	Original article	Shared molecular targets in pediatric gliomas and Ependymomas. 2011
49.	Original article	Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes. 2009/02
50.	Original article	Carbamazepine-induced hemolytic and aplastic crises associated with reduced glutathione peroxidase activity of erythrocytes. 2007/11
51.	Original article	First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation. 2007/11
52.	Original article	Glycolytic inhibition by mutation of pyruvate kinase gene increases oxidative stress and causes apoptosis of a pyruvate kinase deficient cell line. 2007/08
53.	Original article	Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency. 2007/06
54.	Original article	Ineffective erythropoiesis in mutant mice with deficient pyruvate kinase activity 2005/11
55.	Original article	Cyclic polylactate inhibited growth of cloned leukemic cells through reducing glycolytic enzyme activities 2005/08
56.	Original article	A novel homozygous mutation of PKLR gene in a bpyruvate-kinase-deficient Korean family 2005
57.	Original article	Molecular basis of Japanese variants of pyrimidine5'-nucleotidase deficiency 2004/07
58.	Original article	A novel missense mutation (1060G -->C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis. 2003/09
59.	Original article	A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I. 2003/09
60.	Original article	Ineffective erythropoiesis in the spleen of a patient with pyruvate kinase deficiency. 2003/09
61.	Original article	Gene expression and biological significance of hexokinase in erythroid cells. 2002/09
62.	Original article	Homozygous intragenic deletion of type I hexokinase gene causes lethal hemolytic anemia of the affected fetus. 2002/09
63.	Original article	Physiological significance and molecular genetics of red cell enzymes involved in the ribonucleotide metabolism 2002
64.	Original article	Effects of cyclic polylactate (CPL) on the growth of cloned leukemic cells in vitro. 2000/06
65.	Original article	Molecular cloning and expression profile of rat myocilin. 2000/05
66.	Review article	Hexokinase: gene structure and mutations. 2000/03
67.	Original article	Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. 2000/01
68.	Original article	Human HKR isozyme: organization of the hexokinase I gene, the erythroid-specific promoter, and transcription initiation site. 1999/06
69.	Original article	Apoptotic changes precede mitochondrial dysfunction in red cell-type pyruvate kinase mutant mouse erythroleukemia cell lines. 1999/02
70.	Original article	p53 gene mutation in 150 dissected lymph nodes in a patient with esophageal cancer. 1998/10
71.	Original article	Delayed onset of hemolytic anemia in CBA-Pk-1slc/Pk-1slc mice with a point mutation of the gene encoding red blood cell type pyruvate kinase. 1998/03
72.	Original article	Expression and enzymatic characterization of human glucose phosphate isomerase (GPI) variants accounting for GPI deficiency. 1998/03
73.	Original article	Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency. 1997/06
74.	Original article	Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. 1996/09
75.	Review article	Hematologically important mutations: molecular abnormalities of glucose phosphate isomerase deficiency. 1996/03
76.	Original article	Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. 1996/03
77.	Original article	Pyruvate kinase deficiency of mice associated with nonspherocytic hemolytic anemia and cure of the anemia by marrow transplantation without host irradiation. 1995/12
78.	Original article	Primary structure of murine red blood cell-type pyruvate kinase (PK) and molecular characterization of PK deficiency identified in the CBA strain. 1995/10
79.	Original article	A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. 1995/05
80.	Review article	Red cell enzymopathies as a model of inborn errors of metabolism. 1995/05
81.	Original article	Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong. 1994/11
82.	Original article	Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. 1994/04
83.	Original article	Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia. 1993/05
84.	Original article	5' structure and expression of human glucose-6-phosphate dehydrogenase mRNA. 1993/04
85.	Original article	Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK. 1993/04
86.	Review article	Concise review: pyruvate kinase deficiency: historical perspective and recent progress of molecular genetics. 1993/01
87.	Original article	Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells. 1992/10
88.	Original article	A single nucleotide substitution in the phosphoglycerate kinase (PGK)-1 gene occurred after the separation of PGK-1 and PGK-2. 1992/07
89.	Original article	A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. 1992/03
90.	Original article	Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. 1992/03
91.	Original article	Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia. 1992/01
92.	Original article	Genomic structure and expression of human guanosine monophosphate reductase. 1991/12
93.	Original article	Identification of common variant alleles of the human guanosine monophosphate reductase gene. 1991/12
94.	Original article	Single-nucleotide substitution in pyruvate kinase deficiency. 1991/10
95.	Original article	cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia. 1991/09
96.	Original article	Ten cases of pyruvate kinase (PK) deficiency found in Japan: enzymatic characterization of the patients' PK. 1988/09
97.	Original article	A new glucose-6-phosphate dehydrogenase variant (G6PD Iwate) associated with congenital non-spherocytic hemolytic anemia. 1988/07
98.	Original article	Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK Sendai and PK Shinshu. 1988/07
99.	Original article	Genetic analysis of adenosine deaminase expression in adult T-cell leukemia. 1988/06
100.	Original article	Molecular analysis of Lesch-Nyhan syndrome found in Japan. 1988/05
101.	Original article	A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia. 1988/04
102.	Original article	Elevated erythrocyte adenosine deaminase activity in a patient with primary acquired sideroblastic anemia. 1988/03
103.	Original article	Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia: case report and molecular analysis. 1988/02
104.	Original article	Genotypic analysis using a Y-chromosome-specific probe following bone marrow transplantation. 1988/01
105.	Original article	Use of Y-chromosome specific probe for detection of engraftment of bone marrow transplantation. 1987/09
106.	Original article	Two cases of pyruvate kinase deficiency: PK 'Kamakura' and PK 'Naniwa'. 1985/09
107.	Original article	A unique electrophoretic slow-moving glucose 6-phosphate dehydrogenase variant (G6PD Asahikawa) with a markedly acidic pH optimum. 1984/09
108.	Original article	Gd(-) Gifu and Gd(-) Fukuoka. Two new variants of glucose-6-phosphate dehydrogenase found in Japan. 1984/09
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■ Academic conference presentation

1.	Efficient Screening Tests and Gene Mutation Spectrum for Hereditary Stomatocytosis in Japan. 2021/12
2.	Baseline Characteristics by age of a global cohort of patients diagnosed with pyruvate kinase deficiency - A descriptive analysis from the peak registry. 2021/06/11
3.	Baseline Characteristics of Patients in Peak: A Global, Longitudinal Registry of Patients with Pyruvate Kinase Deficiency 2020/12/05
4.	Ex-Vivo Expanded NK Cell Therapy Combined with Elotuzumab for MRD after Autologous Stem Cell Transplantation: A Phase I/ II Clinical Trial in Progress 2019/12/08
5.	A case of hereditary spherocytosis with ANK1 mutation and SLC4A1 variant with persistent severe anemia 2019/11/14
6.	Differential Diagnosis Of Congenital Hemolytic Anemia Of Neonates And Infants In Japan. 2019/06/13
7.	Meta-Analysis Using Data Of Red Cell Enzyme Assay And Proteome In Patients With Diamond-Blackfan Anemia 2019/06/13
8.	A Global Longitudinal Observational Study Of Patients With Pyruvate Kinase Deficiency. 2019/05/01
9.	Current　Practice of Cell Therapy and Management of the Cellular Products at the Tokyo Women's University hospital Dept. Transfusion Medicine and Cell Processing, Faculty of Medicine. 2019/01/25
10.	Clinical and laboratory characteristics of neonatal cases suspected with infantile pyknocytosis. 2018/10/12
11.	Usefulness of comprehensive genetic testing for the diagnosis of congenital hemolytic anemia 2018/10/12
12.	The Peak Registry a global longitudinal observational study of patients with pyruvate kinase deficiency. 2018/10/03
13.	Pyruvate kinase deficiency in Japan: A Summary of clinical feature, laboratory data and enzymatic diagnosis. 2018/06/15
14.	A patient with heredeitary pyropoikilocytosis caused by a combination of a novel in-frame deletion and a common functional but non-pathogenic allele, αLELY, inSPTA1. 2017/12/09
15.	The Flow Cytometric Osmotic Fragility Test Is an Effective Screening Method for Dehydrated Hereditary Stomatocytosis 2017/12/09
16.	AG-348,a pyruvate kinase activator , for pyruvate kinase deficiency : Results the drive PK study 2017/10/22
17.	A patient with hereditary Pyropoikilocytosis caused by a combination of a novel in-frame deletion and a common functional but non-pathogenic allele,αLELY,in SPTA1 2017/10/18
18.	The Flow Cytometric Osmotic Fragility Test is an Effective Screening Test for Red Cell Membrane Disorders, Including Dehydrated Hereditary Stomatocytosis 2017/05/05
19.	Rapid Resolution of Tendon Xanthomas in Elder Heterozygous Familial Hyperchorestelemia Treated With Evolocumab 2017/03/17
20.	Generation and Fanctional Analysis of Congenital Dyserythropoietic Anemia (CDA) Patient-Specific Induced Pluripotent Stem Cells. 2016/12/03
21.	The Novel Missense Mutation of GATA1 Caused Red Cell Adenosine Deaminase Overproduction Associated with Congenital Hemolytic Anemia. 2016/12/03
22.	Congenital hemolytic anemia due to red cell enzymopathies. 2016/05/21
23.	Next Generation Sequencing in Diagnosis of Congenital Hemolytic Anemia. 2016/05/20
24.	Identification of the responsible molecule for flippase in human erythrocyte membrane 2016/05/10
25.	ATP11C Encodes a Major Flippase in Human Erythrocyte and Its Genetic Defect Causes Congenital Non-Spherocytic Hemolytic Anemia 2015/12/06
26.	COL4A1 is a novel causative gene responsible for congenital hemolytic anemia, representing characteristic clinical course in infants. 2015/12/05
27.	Characteristics of a case of Hb Bicetre 〔β63 CAT(His)-CCT(Pro)〕-high oxygen affinity and instability 2015/11/29
28.	Bone marrow cell culture supplemented with high concentration of pyruvic acid be beneficial therapeutic neovacularization 2007/03
29.	Molecular pathology of hereditary non-spherocytic hemolytic anemia 2007/02
30.	Recent progress in mechanisms of anemia due to pyruvate kinase deficiency 2007/01
31.	Alpha hemoglobin stabilizing protein(AHSP) is a susceptibility gene to drug/infection-induced hemolytic anemia 2005/12
32.	Ex vivo treatment of erythroid cells with glycolytic intermediates for metabolic correction of pyruvate kinase deficiency 2004/12
33.	Molecular basis of pyrimidine 5’-nucleotidase deficiency 2003/03
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■ Education

〔Doctoral course〕, Graduate School, Division of Medical Sciences, The University of Tokyo, Completed,