Tetsuya Niihori
Overview
Explore the profile of Tetsuya Niihori including associated specialties, affiliations and a list of published articles.
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97
Citations
2660
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Recent Articles
1.
Kawashima A, Nakamura H, Kodama K, Okubo Y, Endo W, Inui T, et al.
Tohoku J Exp Med
. 2024 Dec;
PMID: 39694493
No abstract available.
2.
Nishiyama A, Niihori T, Suzuki N, Izumi R, Akiyama T, Kato M, et al.
Neurol Genet
. 2024 Nov;
10(6):e200196.
PMID: 39502740
Background And Objectives: Amyotrophic lateral sclerosis (ALS) is an adult-onset progressive neurodegenerative disease. Approximately 10% of ALS cases are familial, and more than 20 causative genes have been identified. As...
3.
Abe T, Morisaki K, Niihori T, Terao M, Takada S, Aoki Y
JCI Insight
. 2024 Oct;
9(22).
PMID: 39352760
Leucine-zipper-like posttranslational regulator 1 (LZTR1) is a member of the BTB-Kelch superfamily, which regulates the RAS proteostasis. Autosomal dominant (AD) mutations in LZTR1 have been identified in patients with Noonan...
4.
Nozawa A, Abe T, Niihori T, Ozeki M, Aoki Y, Ohnishi H
Hum Mol Genet
. 2024 May;
33(16):1420-1428.
PMID: 38743908
Generalized lymphatic anomaly (GLA) and kaposiform lymphangiomatosis (KLA) are rare congenital disorders that arise through anomalous embryogenesis of the lymphatic system. A somatic activating NRAS p.Q61R variant has been recently...
5.
Shoji Y, Hata A, Maeyama T, Wada T, Hasegawa Y, Nishi E, et al.
Clin Pediatr Endocrinol
. 2024 Apr;
33(2):50-58.
PMID: 38572385
Noonan syndrome (NS) is caused by pathogenic variants in genes encoding components of the RAS/MAPK pathway and presents with a number of symptoms, including characteristic facial features, congenital heart diseases,...
6.
Izumi R, Warita H, Niihori T, Furusawa Y, Nakano M, Oya Y, et al.
Cerebellum
. 2024 Feb;
23(4):1498-1508.
PMID: 38324175
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive multisystem neurologic disorder caused by biallelic intronic repeats in RFC1. Although the phenotype of CANVAS has been expanding...
7.
Izumi R, Ikeda K, Niihori T, Suzuki N, Shirota M, Funayama R, et al.
Ann Clin Transl Neurol
. 2023 Dec;
11(3):577-592.
PMID: 38158701
Objective: Multisystem proteinopathy type 3 (MSP3) is an inherited, pleiotropic degenerative disorder caused by a mutation in heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1), which can affect the muscle, bone, and/or nervous...
8.
Abe T, Kanno S, Niihori T, Terao M, Takada S, Aoki Y
Cell Death Dis
. 2023 Aug;
14(8):556.
PMID: 37626065
Leucine zipper-like transcriptional regulator 1 (LZTR1), a substrate adaptor of Cullin 3 (CUL3)-based E3 ubiquitin ligase, regulates proteostasis of the RAS subfamily. Mutations in LZTR1 have been identified in patients...
9.
Okubo Y, Shibuya M, Nakamura H, Kawashima A, Kodama K, Endo W, et al.
Brain Dev
. 2023 Jul;
45(9):505-511.
PMID: 37442734
Variants of SCN1A represent the archetypal channelopathy associated with several epilepsy syndromes. The clinical phenotypes have recently expanded from Dravet syndrome. CASE REPORT: We present a female patient with the...
10.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, et al.
Am J Hum Genet
. 2023 Jun;
110(7):1086-1097.
PMID: 37339631
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the degeneration of motor neurons. Although repeat expansion in C9orf72 is its most common cause, the pathogenesis of ALS isn't...