Kosuke Taniguchi
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Explore the profile of Kosuke Taniguchi including associated specialties, affiliations and a list of published articles.
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Articles
29
Citations
146
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Recent Articles
1.
Taniguchi K, Hasegawa F, Okazaki Y, Hori A, Ogata-Kawata H, Aoto S, et al.
Mol Genet Genomic Med
. 2025 Mar;
13(3):e70092.
PMID: 40078074
Background: Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES-based strategy...
2.
Masuda L, Hasegawa A, Kamura H, Hasegawa F, Yamamura M, Taniguchi K, et al.
Hum Genome Var
. 2024 Aug;
11(1):32.
PMID: 39183348
Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. However, the SMALED2 genotype and phenotype correlation have not been...
3.
Taniguchi K, Okanda M
J Exp Child Psychol
. 2024 May;
244:105945.
PMID: 38729060
This study examined children's beliefs about a humanoid robot by examining their behavioral and verbal responses. We investigated whether 3- and 5-year-old children would treat the humanoid robot gently along...
4.
Watanabe M, Kato M, Matsuda Y, Taniguchi K, Itakura S
Sci Rep
. 2024 Apr;
14(1):7968.
PMID: 38575648
Fear of doctors is a common source of distress among infants; however, the underlying sources of this distress are unknown. To investigate the doctor-infant relationship, the behaviors of 61 healthy...
5.
Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, et al.
J Med Genet
. 2023 Oct;
61(3):239-243.
PMID: 37833059
DNA polymerase epsilon (Pol ε), a component of the core replisome, is involved in DNA replication. Although genetic defects of Pol ε have been reported to cause immunodeficiency syndromes, its...
6.
Oshina K, Kamei Y, Hori A, Hasegawa F, Taniguchi K, Migita O, et al.
Hum Genome Var
. 2022 Dec;
9(1):45.
PMID: 36509760
Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA. FLNA variants associated with lethal OPDSD primarily alter...
7.
Kobayashi Y, Ito Y, Taniguchi K, Harada K, Yamamura M, Sato T, et al.
Hum Genome Var
. 2022 Nov;
9(1):40.
PMID: 36376277
Achondrogenesis type II (ACG2) is a lethal skeletal disorder caused by pathogenic variants in COL2A1. We present a fetus with cystic hygroma and severe shortening of the limbs at 14...
8.
Okazaki Y, Taniguchi K, Miyamoto Y, Kinoshita S, Nakabayashi K, Kaneko K, et al.
Placenta
. 2022 Sep;
128:73-82.
PMID: 36088840
Introduction: Maternal glucocorticoid exposure increases the risk of preterm delivery; however, the association between glucocorticoids and preterm premature rupture of membranes (pPROM)-a direct cause of preterm delivery-has rarely been investigated....
9.
Ito Y, Kamide T, Taniguchi K, Sato T, Yamamura M, Konishi A, et al.
Case Rep Obstet Gynecol
. 2022 Aug;
2022:1763948.
PMID: 35909982
The long-term prognosis and genetic mechanism of pregnancy after intrauterine mosaic aneuploid blastocyst transfer remain unknown. We report the case of two babies after the aforementioned procedure and chromosomal analysis...
10.
Aoto S, Hangai M, Ueno-Yokohata H, Ueda A, Igarashi M, Ito Y, et al.
Sci Rep
. 2022 Mar;
12(1):3730.
PMID: 35260616
Deep learning has rapidly been filtrating many aspects of human lives. In particular, image recognition by convolutional neural networks has inspired numerous studies in this area. Hardware and software technologies...