YAMAGUCHI Tomomi
Academic Assembly School of Medicine and Health Sciences Institute of Medicine
Shinshu University Hospital Center for Medical Genetics
Assistant Professor
Researcher Information
Research activity information
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Paper
- Clinical features and morphology of collagen fibrils in patients with vascular Ehlers-Danlos based on electron microscopy.
Ishikawa S, Hayashi S, Sairenchi T, Miyamoto M, Yoshihara S, Kobashi G, Yamaguchi T, Kosho T, Igawa K.
Front Genet, 1238209, Aug. 2023
- Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.
Yamaguchi T, Yamada K, Nagai S, Nishikubo T, Koitabashi N, Minami-Hori M, Matsushima M, Shibata Y, Ishiguro H, Sanai H, Fujikawa T, Takiguchi Y, Matsumoto KI, Kosho T.
Front Genet, 14, 1234804, Aug. 2023
Lead, Corresponding - 遺伝を考える「遺伝の法則と遺伝形式」
山口智美、古庄知己
日本医師会雑誌, 152(1), S30-S34, Jun. 2023 - Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers-Danlos syndrome.
Furuhata-Yoshimura M, Yamaguchi T, Izu Y, Kosho T.
Am J Med Genet A., Jun. 2023 - A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant.
Hidaka K, Inai T, Kosho T, Yamaguchi T, Kawabata Y, Inai Y, Imamura S, Sanada S.
Respir Med Case Rep., 44, 101870, May 2023 - Case report: further delineation of AEBP1-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.
Yamaguchi T, Hayashi S, Nagai S, Uchiyama A, Motegi SI, Fujikawa T, Takiguchi Y, Kosho T.
Front Genet., 14, 1102101, May 2023
Lead, Corresponding - Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells
Yue F, Era T, Yamaguchi T, Kosho T.
Genes (Basel), 14(3), 730, Mar. 2023 - Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification-based next-generation sequencing system
Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi Ｎ, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio SY, Kosho T
Am J Med Genet A, 191(1), 37-51, Jan. 2023
Lead - Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1
Kondo Y, Yoshinaga T, Nakamura K, Yamaguchi T, Ishikawa M, Kosho T, Sekijima Y
Neurol Genet, 9(1), e200047, Dec. 2022 - Case report: Mild phenotype of a patient with vascular Ehlers-Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence.
Hayashi S, Yamaguchi T, Kosho T, Igawa K.
Front Genet., 13, 1017446, Nov. 2022 - Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Takeda R, Yamaguchi T, Hayashi S, Sano S, Kawame H, Kanki S, Taketani T, Yoshimura H, Nakamura Y, Kosho T
Am J Med Genet A, 188(9), 2560-2575, Jul. 2022 - Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Yamaguchi T, Kosho T, Ogata T, Saitsu H
J Hum Genet, 67(7), 387-392, Jul. 2022 - Follow-up System for Childhood Cancer Survivors Via Germline Clinical Sequencing
Watanabe T, Hirabayashi K, Morita D, Yamaguchi T, Okura E, Morokawa H, Saito S, Tanaka M, Nakazawa Y, Kosho T
The Shinshu Medical Journal, 70(3), 157-167, Jun. 2022 - Postnatal intracerebral hemorrhage with hereditary hemorrhagic telangiectasia
Miyosawa Y, Kamiya M, Nakamura C, Yamaguchi T, Kosho T
Pediatr Int., 64(1), e15333, Jan. 2022 - Severe Hypoxemia Caused by High-Output Heart Failure and Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia
Yamamoto H, Itamoto C, Yamaguchi T, Kosho T
JACC Case Rep, 3(17), 1863-1868, Dec. 2021 - Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis
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
Am J Med Genet A, 185(7), 2175-9, Jul. 2021 - A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome
Nakazawa H, Yamaguchi T, Sakai H, Maruyama M, Kawakami T, Kawakami F, Nishina S, Ishikawa M, Kosho T, Ishida F
Int J Hematol, May 2021 - A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
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
J Hum Genet, May 2021 - Early-Onset Inflammatory Bowel Disease Caused by Mutations in the X-Linked Gene IL2RG.
Ogawa A, Watanabe T, Natsume T, Okura E, Saito S, Kato S, Nakayama Y, Furukawa S, Yamaguchi T, Kosho T, Uehara T, Kobayashi N, Agematsu K, Nakazawa Y, Shigemura T
J Investig Allergol Clin Immunol, 31(1), 69-71, Feb. 2021 - Posterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases
Uehara M, Oba H, Hatakenaka T, Ikegami S, Kuraishi S, Takizawa T, Munakata R, Mimura T, Yamaguchi T, Kosho T, Takahashi J
World Neurosurg, 143, 454-61, Nov. 2020 - Intracranial and extracranial multiple arterial dissecting aneurysms in rheumatoid arthritis: A case report
Uekawa K, Kaku Y, Amadatsu T, Matsuzaki H, Ohmori Y, Kawano T, Hirata S, Yamaguchi T, Kosho T, Mukasa A
Interv Neuroradiol, 27(2), 212-8, Oct. 2020 - Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.
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.
Genes (Basel), 10(9), 715, Sep. 2019 - Familial aortic dissection of a young adult caused by MYH11 gene mutation.
Yamasaki M, Abe K, Kosho T, Yamaguchi T.
Ann Thorac Surg., 108(1), e49, Jul. 2019 - PIEZO2 deficiency is a recognizable arthrogryposis syndrome: a new case and literature review.
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.
Am J Med Genet A., 179(6), 948-57, Jun. 2019 - Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14.
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.
Biochim Biophys Acta Gen Subj., 1863(3), 623-31, May 2019 - A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations.
Kawano-Matsuda F, Shimada Y, Omotobara-Yabe T, Itonaga T, Maeda M, Maeda T, Yamaguchi T, Kosho T, Ihara K.
Clin Dysmorphol., 29(1), 49-52, Apr. 2019 - A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.
Ogawa Y, Nakamura K, Ezawa N, Yamaguchi T, Yoshinaga T, Miyazaki D, Kosho T, Sekijima Y.
J Neurol Sci., 399, 214-6, Apr. 2019 - Frequency and clinical features of hearing loss caused by STRC deletions.
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.
Sci Rep., 9(1), 4408, Mar. 2019 - Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series.
Kobayashi T, Nakamura Y, Suzuki T, Yamaguchi T, Takeda R, Takagi M, Hasegawa T, Kosho T, Kato H.
J Clin Med., 7(12), 479, Nov. 2018 - Peripartum iliac arterial aneurysm and rupture in a patient with vascular Ehlers-Danlos syndrome diagnosed by next generation sequencing.
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.
Int Heart J., 59(5), 1180-5, Sep. 2018 - Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case report.
Uehara M, Nakamura Y, Takahashi J, Kamimura M, Isobe F, Yamaguchi T, Kosho T, Uchiyama S, Suzuki T, Kato H.
Ther Clin Risk Manag, 14, 1243–1246, Jul. 2018 - [Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].
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.
Rinsho Ketsueki, 59(4), 401-406, 2018 - Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T.
Eur J Med Genet, 60(10), 521-526, Oct. 2017 - Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature.
Fukuda Y, Higuchi Y, Shinozaki K, Tanigawa Y, Abe T, Hanaoka N, Matsubayashi S, Yamaguchi T, Kosho T, Nakamichi K.
Intern Med, 56(20), 2791-2796, Oct. 2017 - A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y.
Hum Genome Var, 4, 17052, Oct. 2017 - Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Mizumoto S, Kosho T, Hatamochi A, Honda T, Yamaguchi T, Okamoto N, Miyake N, Yamada S, Sugahara K.
Clin Biochem, 50(12), 670-677, Aug. 2017 - Efficacy of Denosumab for Osteoporosis in Three Female Patients with Osteogenesis Imperfecta.
Uehara M, Nakamura Y, Takahashi J, Kamimura M, Ikegami S, Suzuki T, Uchiyama S, Yamaguchi T, Kosho T, Kato H.
Tohoku J Exp Med, 242(2), 115-120, Jun. 2017 - Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
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
Ann Otol Rhinol Laryngol, 125(11), 918-923, Nov. 2016 - 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.
Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.
Am J Med Genet A, 170A(2), 322-8, Feb. 2016
Lectures, oral presentations, etc.
- ハンズオンセミナー クリニカルシークエンス・いろは 遺伝学的検査結果を理解したい 養成課程学生と新米CGCのために！
山口智美
第47回日本遺伝カウンセリング学会学術集会, Jul. 2023信州大学医学部附属病院遺伝子医療研究センターにおけるクリニカル・シークエンスの現状
山口智美、藤川朝海、滝口百合、重藤翔平、永井爽、神谷素子、髙野亨子、古庄知己
第47回日本遺伝カウンセリング学会学術集会, Jul. 2023信州大学医学部附属病院遺伝子医療研究センターにおける心筋症のクリニカル・シークエンス
山口智美、木村和広、藤川朝海、滝口百合、重藤翔平、 永井爽、神谷素子、髙野亨子、桑原宏一郎、古庄知己
第30回日本遺伝子診療学会大会/第8回クリニカルバイオバンク学会シンポジウム 合同学術集会, Jul. 2023第2回JEFA賞（基礎部門・優秀賞）受賞演題について「類古典型エーラス・ダンロス症候群における分子遺伝学的・臨床的研究：アジア初のシリーズ」
山口智美
2023年度JEFA年次会合, May 2023古典型様エーラス・ダンロス症候群9症例の 臨床的・分子遺伝学的特徴
山口智美、山田和夫、藤川朝海、滝口百合、松本健一、古庄知己
日本人類遺伝学会第67回大会, Dec. 2022類古典型エーラス・ダンロス症候群における分子遺伝学的・臨床的研究：アジア初のシリーズ
山口智美、山田和夫、松本健一、古庄知己
第3回日本エーラス・ダンロス症候群研究会, Nov. 2022第1回JEFA賞（基礎部門）受賞演題について「類古典型EDSの原因遺伝子であるTNXBの検査法とその検証」
山口智美
2022年度JEFA年次会合, May 2022類古典型EDSの原因遺伝子であるTNXBの検査法とその検証
山口智美、山田和夫、松本健一、古庄知己
第2回エーラス・ダンロス研究会, Dec. 2021信州大学医学部附属病院遺伝子医療研究センターにおける循環器疾患の遺伝学的検査の概要
山口智美、木村和広、桑原宏一郎、古庄知己
第24回信州遺伝子診療研究会, Nov. 2021古典型様エーラス・ダンロス症候群の原因遺伝子TNXBにおけるバリアント検出法とその検証
山口智美、山田和夫、藤川朝海、滝口百合、松本健一、古庄知己
日本人類遺伝学会第66回大会 第28回日本遺伝子診療学会大会 合同開催, Oct. 2021古典型様エーラス・ダンロス症候群の原因遺伝子TNXBにおけるバリアント検出法
山口智美、古庄知己
第1回エーラス・ダンロス症候群研究会, Dec. 2020Ion 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
山口智美, 髙野亨子, 西尾信哉, 古庄知己
日本人類遺伝学会第65回大会, 2020, 日本人類遺伝学会Clinical Sequencing for Vascular Ehlers-Danlos Syndrome Using Panel-Based Next-Generation Sequencing
Tomomi Yamaguchi, Shujiro Hayashi, Tomoki Kosho
Scientific Meeting Rarer types of EDS, Nov. 2019