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山口 智美  ヤマグチ トモミ

教員組織電話番号
教育組織医学部附属病院 遺伝子医療研究センターFAX番号
職名助教(特定雇用)メールアドレス
住所〒390-8621 長野県松本市旭3-1-1ホームページURL

プロフィール

研究分野
分子生物学
遺伝医学
所属学会
所属学会
日本人類遺伝
学歴
出身大学院
2005 , 富山大学大学院 , 理工学研究科 , 生物学専攻

取得学位
理学修士 , 富山大学大学院
研究職歴等
研究職歴
2017- , 助教(特定雇用)
2005- , 株式会社ナガノトマト マーケティング部 研究開発グループ

研究活動業績

研究業績(著書・
発表論文等)
論文
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis
Am J Med Genet A,185(7):2175-9 2021(Jul.)
Author:Hanafusa H, Hidaka Y, Yamaguchi T, Shimojo H, Tsukahara T, Murase T, Matsuoka D, Chiba N, Shimada S, Morokawa H, Omori N, Minoura H, Nagano C, Takano K, Nakamura K, Wakui K, Fukushima Y, Uehara T, Nakazawa Y, Iijima K, Nozu K, Kosho T


A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
J Hum Genet 2021(May)
Author:Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M


A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome
Int J Hematol 2021(May)
Author:Nakazawa H, Yamaguchi T, Sakai H, Maruyama M, Kawakami T, Kawakami F, Nishina S, Ishikawa M, Kosho T, Ishida F


Posterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases
World Neurosurg,143:454-61 2020(Nov.)
Author:Uehara M, Oba H, Hatakenaka T, Ikegami S, Kuraishi S, Takizawa T, Munakata R, Mimura T, Yamaguchi T, Kosho T, Takahashi J


Intracranial and extracranial multiple arterial dissecting aneurysms in rheumatoid arthritis: A case report
Interv Neuroradiol,27(2):212-8 2020(Oct.)
Author:Uekawa K, Kaku Y, Amadatsu T, Matsuzaki H, Ohmori Y, Kawano T, Hirata S, Yamaguchi T, Kosho T, Mukasa A


Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.
Genes (Basel),10(9):715 2019(Sep.)
Author:Sugiyama K, Moteki H, Kitajiri SI, Kitano T, Nishio SY, Yamaguchi T, Wakui K, Abe S, Ozaki A, Motegi R, Matsui H, Teraoka M, Kobayashi Y, Kosho T, Usami SI.


Familial aortic dissection of a young adult caused by MYH11 gene mutation.
Ann Thorac Surg.,108(1):e49 2019(Jul.)
Author:Yamasaki M, Abe K, Kosho T, Yamaguchi T.


PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Am J Med Genet A.,179(6):948-57 2019(Jun.)
Author:Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, Kato H, Takahashi J, Kosho T.


Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14.
Biochim Biophys Acta Gen Subj.,1863(3):623-31 2019(May)
Author:Hirose T, Takahashi N, Tangkawattana P, Minaguchi J, Mizumoto S, Yamada S, Miyake N, Hayashi S, Hatamochi A, Nakayama J, Yamaguchi T, Hashimoto A, Nomura Y, Takehana K, Kosho T, Watanabe T.


A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.
J Neurol Sci.,399:214-6 2019(Apr.)
Author:Ogawa Y, Nakamura K, Ezawa N, Yamaguchi T, Yoshinaga T, Miyazaki D, Kosho T, Sekijima Y.


A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations.
Clin Dysmorphol.,29(1):49-52 2019(Apr.)
Author:Kawano-Matsuda F, Shimada Y, Omotobara-Yabe T, Itonaga T, Maeda M, Maeda T, Yamaguchi T, Kosho T, Ihara K.


Frequency and clinical features of hearing loss caused by STRC deletions.
Sci Rep.,9(1):4408 2019(Mar.)
Author:Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI.


Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series.
J Clin Med.,7(12):479 2018(Nov.)
Author:Kobayashi T, Nakamura Y, Suzuki T, Yamaguchi T, Takeda R, Takagi M, Hasegawa T, Kosho T, Kato H.


Peripartum iliac arterial aneurysm and rupture in a patient with vascular Ehlers-Danlos syndrome diagnosed by next generation sequencing.
Int Heart J.,59(5):1180-5 2018(Sep.)
Author:Koitabashi N, Yamaguchi T, Fukui D, Nakano T, Umeyama A, Toda K, Funada R, Ishikawa M, Kawamura R, Okada K, Hatamochi A, Kosho T, Kurabayashi M.


Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case report.
Ther Clin Risk Manag,14:1243–1246 2018(Jul.)
Author:Uehara M, Nakamura Y, Takahashi J, Kamimura M, Isobe F, Yamaguchi T, Kosho T, Uchiyama S, Suzuki T, Kato H.


【Marfan症候群の診断と治療】Marfan症候群と類縁疾患のPrecision Medicine.
医学のあゆみ,264(3):227-233 2018(Jan.)
Author:山口智美,古庄知己.


[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].
Rinsho Ketsueki,59(4):401-406 2018
Author:Kawakami T, Nakazawa H, Kawakami F, Matsuzawa S, Sudo Y, Sakai H, Nishina S, Senoo N, Senoo Y, Komatsu M, Umemura T, Yamaguchi T, Kosho T, Fujiwara T, Harigae H, Ishida F.


A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Hum Genome Var,4:17052 2017(Oct.)
Author:Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y.


Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature.
Intern Med,56(20):2791-2796 2017(Oct.)
Author:Fukuda Y, Higuchi Y, Shinozaki K, Tanigawa Y, Abe T, Hanaoka N, Matsubayashi S, Yamaguchi T, Kosho T, Nakamichi K.


Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Eur J Med Genet,60(10):521-526 2017(Oct.)
Author:Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T.


Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Clin Biochem,50(12):670-677 2017(Aug.)
Author:Mizumoto S, Kosho T, Hatamochi A, Honda T, Yamaguchi T, Okamoto N, Miyake N, Yamada S, Sugahara K.


NGSを活用した臨床シーケンスの現状と課題 遺伝性結合組織疾患の臨床シークエンス
臨床病理,65(6):683-690 2017(Jun.)
Author:山口 智美, 古庄 知己


Efficacy of Denosumab for Osteoporosis in Three Female Patients with Osteogenesis Imperfecta.
Tohoku J Exp Med,242(2):115-120 2017(Jun.)
Author:Uehara M, Nakamura Y, Takahashi J, Kamimura M, Ikegami S, Suzuki T, Uchiyama S, Yamaguchi T, Kosho T, Kato H.


Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Ann Otol Rhinol Laryngol,125(11):918-923 2016(Nov.)
Author:Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI


Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Am J Med Genet A,170A(2):322-8 2016(Feb.)
Author:Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.


講演・口頭発表等
Ion Torrentシステムにおけるコピー数異常検出法の有用性:遺伝性結合組織疾患関連遺伝子カスタムパネルに注目して
第65回大会 2020
Presenter:山口智美, 髙野亨子, 西尾信哉, 古庄知己


Clinical Sequencing for Vascular Ehlers-Danlos Syndrome Using Panel-Based Next-Generation Sequencing
Scientific Meeting Rarer types of EDS 2019(Nov.)
Presenter:Tomomi Yamaguchi, Shujiro Hayashi, Tomoki Kosho


血管型エーラス・ダンロス症候群の次世代シークエンサーを用いた遺伝学的検査
第63回大会 2018
Presenter:山口智美, 荒川航太, 石川真澄, 黄瀬恵美子, 小島朋美, 運﨑愛, 藤田直久, 髙野亨子, 吉長恒明, 涌井敬子, 福嶋義光, 古庄知己

研究費
科学研究費補助金(研究代表者)
2019 - 2021 , 包括的アプローチによる血管型エーラス・ダンロス症候群の分子遺伝学的発症機序の解明 , 若手研究