Masakazu Kohda
Overview
Explore the profile of Masakazu Kohda including associated specialties, affiliations and a list of published articles.
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Articles
49
Citations
1080
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Recent Articles
1.
Martin C, Sarlos K, Logan C, Thakur R, Parry D, Bizard A, et al.
Am J Hum Genet
. 2024 May;
111(5):996.
PMID: 38701747
No abstract available.
2.
Suzuki K, Yamaguchi T, Kohda M, Tanaka M, Takemura H, Wakita M, et al.
PLoS One
. 2022 Dec;
17(12):e0278927.
PMID: 36516194
The relationship between the expression of microRNAs (miRNAs) in blood and a variety of diseases has been investigated. MiRNA-based liquid biopsy has attracted much attention, and cancer-specific miRNAs have been...
3.
Kobayashi M, Suzuki Y, Nodera M, Matsunaga A, Kohda M, Okazaki Y, et al.
Hum Genome Var
. 2022 Sep;
9(1):35.
PMID: 36175418
Biotin-responsive basal ganglia disease (BBGD) with SLC19A3 mutation was first reported in 1998, and over 30 mutations have been reported. We report a neonatal BBGD case with sudden-onset feeding difficulty...
4.
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, et al.
Sci Rep
. 2021 Nov;
11(1):22682.
PMID: 34785734
No abstract available.
5.
Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, et al.
Mol Genet Metab Rep
. 2021 Oct;
29:100809.
PMID: 34667719
Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients with this...
6.
Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta K, Yatsuka Y, et al.
Hum Mutat
. 2021 Aug;
42(11):1422-1428.
PMID: 34405929
Isolated complex I deficiency is the most common cause of pediatric mitochondrial disease. Exome sequencing (ES) has revealed many complex I causative genes. However, there are limitations associated with identifying...
7.
Sawada K, Momose S, Kawano R, Kohda M, Irie T, Mishima K, et al.
Mod Pathol
. 2021 Aug;
35(2):177-185.
PMID: 34404905
Next-generation sequencing of oral squamous cell carcinoma (OSCC) has revealed TP53 as the most frequently mutated gene in OSCC mutually exclusive with human papillomavirus infection. Oral epithelial dysplasia (OED) is...
8.
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta K, Kishita Y, Sugiura A, et al.
Int J Cardiol
. 2021 Jul;
341:48-55.
PMID: 34298071
Background: Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other risk factors including genetic factors related to poor prognosis in mitochondrial disease has...
9.
Kishita Y, Ishikawa K, Nakada K, Hayashi J, Fushimi T, Shimura M, et al.
Sci Rep
. 2021 May;
11(1):11123.
PMID: 34045482
Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial deficiency. m.14597A>G (p.Ile26Thr) in the MT-ND6 gene was reported to cause Leber's hereditary optic neuropathy (LHON) or dementia/dysarthria....
10.
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, et al.
Sci Rep
. 2021 Feb;
11(1):3531.
PMID: 33574353
Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify...