論文 Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system. Front Genet,14:1234804 2023(Aug.) Author: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.
Clinical features and morphology of collagen fibrils in patients with vascular Ehlers-Danlos based on electron microscopy. Front Genet,:1238209 2023(Aug.) Author:Ishikawa S, Hayashi S, Sairenchi T, Miyamoto M, Yoshihara S, Kobashi G, Yamaguchi T, Kosho T, Igawa K.
Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers-Danlos syndrome. Am J Med Genet A. 2023(Jun.) Author:Furuhata-Yoshimura M, Yamaguchi T, Izu Y, Kosho T.
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. Front Genet.,14:1102101 2023(May) Author:Yamaguchi T, Hayashi S, Nagai S, Uchiyama A, Motegi SI, Fujikawa T, Takiguchi Y, Kosho T.
A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant. Respir Med Case Rep.,44:101870 2023(May) Author:Hidaka K, Inai T, Kosho T, Yamaguchi T, Kawabata Y, Inai Y, Imamura S, Sanada S.
Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells Genes (Basel),14(3):730 2023(Mar.) Author:Yue F, Era T, Yamaguchi T, Kosho T.
Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification-based next-generation sequencing system Am J Med Genet A,191(1):37-51 2023(Jan.) Author: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
Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1 Neurol Genet,9(1):e200047 2022(Dec.) Author:Kondo Y, Yoshinaga T, Nakamura K, Yamaguchi T, Ishikawa M, Kosho T, Sekijima Y
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. Front Genet.,13:1017446 2022(Nov.) Author:Hayashi S, Yamaguchi T, Kosho T, Igawa K.
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. J Hum Genet,67(7):387-392 2022(Jul.) Author:Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Yamaguchi T, Kosho T, Ogata T, Saitsu H
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications. Am J Med Genet A,188(9):2560-2575 2022(Jul.) Author:Takeda R, Yamaguchi T, Hayashi S, Sano S, Kawame H, Kanki S, Taketani T, Yoshimura H, Nakamura Y, Kosho T
Follow-up System for Childhood Cancer Survivors Via Germline Clinical Sequencing The Shinshu Medical Journal,70(3):157-167 2022(Jun.) Author:Watanabe T, Hirabayashi K, Morita D, Yamaguchi T, Okura E, Morokawa H, Saito S, Tanaka M, Nakazawa Y, Kosho T
Postnatal intracerebral hemorrhage with hereditary hemorrhagic telangiectasia Pediatr Int.,64(1):e15333 2022(Jan.) Author:Miyosawa Y, Kamiya M, Nakamura C, Yamaguchi T, Kosho T
Severe Hypoxemia Caused by High-Output Heart Failure and Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia JACC Case Rep,3(17):1863-1868 2021(Dec.) Author:Yamamoto H, Itamoto C, Yamaguchi T, Kosho T
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
Early-Onset Inflammatory Bowel Disease Caused by Mutations in the X-Linked Gene IL2RG. J Investig Allergol Clin Immunol,31(1):69-71 2021(Feb.) Author: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
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.
[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.
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.
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