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Masakazu KOHDA
Masakazu KOHDA
Verified email at juntendo.ac.jp
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A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies
M Kohda, Y Tokuzawa, Y Kishita, H Nyuzuki, Y Moriyama, Y Mizuno, ...
PLoS genetics 12 (1), e1005679, 2016
2862016
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva
T Fukuda, M Kohda, K Kanomata, J Nojima, A Nakamura, J Kamizono, ...
Journal of Biological Chemistry 284 (11), 7149-7156, 2009
2192009
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ...
The American Journal of Human Genetics 95 (6), 708-720, 2014
1372014
Frequent loss of imprinting of IGF2 and MEST in lung adenocarcinoma
M Kohda, H Hoshiya, M Katoh, I Tanaka, R Masuda, T Takemura, ...
Molecular Carcinogenesis: Published in cooperation with the University of …, 2001
1322001
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ...
Brain 140 (6), 1595-1610, 2017
1292017
Knockdown of COPA, identified by loss-of-function screen, induces apoptosis and suppresses tumor growth in mesothelioma mouse model
H Sudo, AB Tsuji, A Sugyo, M Kohda, C Sogawa, C Yoshida, Y Harada, ...
Genomics 95 (4), 210-216, 2010
1182010
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
G Brea-Calvo, TB Haack, D Karall, A Ohtake, F Invernizzi, R Carrozzo, ...
The American Journal of Human Genetics 96 (2), 309-317, 2015
1102015
Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement
TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ...
Annals of clinical and translational neurology 2 (5), 492-509, 2015
1072015
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
E Ogawa, M Shimura, T Fushimi, M Tajika, K Ichimoto, A Matsunaga, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2017
932017
A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA
T Awata, H Yamashita, S Kurihara, T Morita-Ohkubo, Y Miyashita, ...
PloS one 9 (11), e111715, 2014
932014
Induction of protective immunity to cryptococcal infection in mice by a heat-killed, chitosan-deficient strain of Cryptococcus neoformans
R Upadhya, WC Lam, B Maybruck, CA Specht, SM Levitz, JK Lodge
MBio 7 (3), 10.1128/mbio. 00547-16, 2016
922016
Large-scale evaluation of imprinting status in the Prader–Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes
M Meguro, K Mitsuya, N Nomura, M Kohda, A Kashiwagi, R Nishigaki, ...
Human molecular genetics 10 (4), 383-394, 2001
922001
Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients
H Miyazawa, M Kato, T Awata, M Kohda, H Iwasa, N Koyama, T Tanaka, ...
The American Journal of Human Genetics 80 (6), 1090-1102, 2007
912007
Mutations in TOP3A cause a Bloom syndrome-like disorder
CA Martin, CV Logan, RS Thakur, DA Parry, AH Bizard, A Leitch, L Cleal, ...
The American Journal of Human Genetics 103 (2), 221-231, 2018
802018
Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification
A Ohtake, K Murayama, M Mori, H Harashima, T Yamazaki, S Tamaru, ...
Biochimica et Biophysica Acta (BBA)-General Subjects 1840 (4), 1355-1359, 2014
792014
Haplotype-based analysis of genes associated with risk of adverse skin reactions after radiotherapy in breast cancer patients
T Suga, A Ishikawa, M Kohda, Y Otsuka, S Yamada, N Yamamoto, ...
International Journal of Radiation Oncology* Biology* Physics 69 (3), 685-693, 2007
792007
A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era
SB Wortmann, JA Mayr, JM Nuoffer, H Prokisch, W Sperl
Neuropediatrics 48 (04), 309-314, 2017
742017
Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population
K Mori, K Horie-Inoue, M Kohda, I Kawasaki, PL Gehlbach, T Awata, ...
Journal of human genetics 52 (7), 636-641, 2007
732007
Intra-mitochondrial methylation deficiency due to mutations in SLC25A26
Y Kishita, A Pajak, NA Bolar, CMT Marobbio, C Maffezzini, DV Miniero, ...
The American Journal of Human Genetics 97 (5), 761-768, 2015
682015
Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies
RG Feichtinger, M Oláhová, Y Kishita, C Garone, LS Kremer, M Yagi, ...
The American Journal of Human Genetics 101 (4), 525-538, 2017
672017
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