Yoshinori Tsurusaki
Overview
Explore the profile of Yoshinori Tsurusaki including associated specialties, affiliations and a list of published articles.
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174
Citations
4257
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Recent Articles
1.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, et al.
Eur J Hum Genet
. 2023 Mar;
32(12):1551-1558.
PMID: 36973392
Autism spectrum disorder (ASD) is caused by combined genetic and environmental factors. Genetic heritability in ASD is estimated as 60-90%, and genetic investigations have revealed many monogenic factors. We analyzed...
2.
Yoshino Y, Goto H, Ito M, Tsurusaki Y, Takita J, Hayashi Y, et al.
Med Oncol
. 2022 Sep;
39(12):234.
PMID: 36175806
SMARCB1/INI1 deficiency is seen in several malignant tumors including malignant rhabdoid tumor (MRT), a highly aggressive pediatric malignancy. Loss of SMARCB1/INI1 function alters diverse oncogenic cellular signals, making it difficult...
3.
Kimura H, Nakatochi M, Aleksic B, Guevara J, Toyama M, Hayashi Y, et al.
Transl Psychiatry
. 2022 Jul;
12(1):265.
PMID: 35811316
Autism spectrum disorder (ASD) is a highly heritable, complex disorder in which rare variants contribute significantly to disease risk. Although many genes have been associated with ASD, there have been...
4.
Akahira-Azuma M, Enomoto Y, Nakamura N, Yokoi T, Minatogawa M, Harada N, et al.
Hum Genome Var
. 2022 May;
9(1):16.
PMID: 35581182
Spondyloepiphyseal dysplasia congenita (SEDC) is a multisystemic skeletal disorder caused by pathogenic variants in COL2A1. Here, we report the genotype-phenotype correlations in five Japanese patients with SEDC based on their...
5.
Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, et al.
Genome Med
. 2022 Apr;
14(1):40.
PMID: 35468861
Background: Previous large-scale studies of de novo variants identified a number of genes associated with neurodevelopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such...
6.
Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, et al.
Genet Med
. 2022 Mar;
24(6):1261-1273.
PMID: 35341651
Purpose: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. Methods: Individuals with protein altering variants in SOX11 were identified through exome and genome...
7.
Shono K, Enomoto Y, Tsurusaki Y, Kumaki T, Masuno M, Kurosawa K
Am J Med Genet A
. 2022 Feb;
188(5):1595-1599.
PMID: 35122673
A loss-of-function mutation of SET causes nonsyndromic intellectual disability, often associated with mild facial dysmorphic features, including plagiocephaly, facial asymmetry, broad and high forehead, a wide mouth, and a prominent...
8.
Oarada M, Okumura Y, Hirasaka K, Sugiura K, Tachibana N, Tsurusaki Y, et al.
J Nutr Sci Vitaminol (Tokyo)
. 2022 Jan;
67(6):404-416.
PMID: 34980719
Sodium nitrite (NaNO) is a widely used food additive. The present study compared the outcomes from intakes of dietary NaNO and a high-fat diet (HFD), and assessed their combined effects...
9.
Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, et al.
Clin Genet
. 2021 Dec;
101(3):335-345.
PMID: 34958122
Rubinstein-Taybi syndrome (RSTS) is characterized by dysmorphic facial features, broad thumbs, and intellectual disability. CREB-binding protein (CREBBP) or E1A-binding protein P300 (EP300) are causative genes. To elucidate the underlying genetic...
10.
Yamamoto K, Kuriu T, Matsumura K, Nagayasu K, Tsurusaki Y, Miyake N, et al.
Transl Psychiatry
. 2021 Oct;
11(1):548.
PMID: 34697299
An increasing body of evidence suggests that impaired synapse development and function are associated with schizophrenia; however, the underlying molecular pathophysiological mechanism of the disease remains largely unclear. We conducted...