タイトル厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成24年度 総括・分担研究報告書

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厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成24年度 総括・分担研究報告書

発表者氏名論文タイトル名発表誌名巻号ページ出版年Wakahara R, Kunimoto H,Tanino K, Kojima H, Inoue A,Shintaku H, Nakajima KPhospho-Ser727 of STAT3regulates STAT3 activity byenhancing dephosphorylationof phospho-Tyr705 largelythrough TC45.Genes Cells. 17(2) 132-45 2012Tachibana Y, Aida N, EnomotoK, Iai M, Kurosawa K.A case of Sjogren-Larsson Pediatrsyndrome with minimal MR Radiol.imaging findings facilitated byproton spectroscopy.42 380-382 2012Kurosawa K, Enomoto K,Tominaga M, Furuya N,Sameshima K, Iai M, Take H,Shinkai M, Ishikawa H,Yamanaka M, Matsui M,Masuno M.Spastic quadriplegia in Downsyndrome with congenitalduodenal stenosis/atresia.Cong Anom 52 78-81 2012Kurosawa K, Tanoshima-TakeiM, Yamamoto T, Ishikawa H,Masuno M, Tanaka Y,Yamanaka M.Enomoto K, Kishitani Y,Tominaga M, Ishikawa A,Furuya N, Aida N, Masun M,Yamada K, Kurosawa K.Sirenomelia with a de novobalanced translocation46,X,t(X;16)(p11.2;p12.3)Expression Analysis of a 17pTerminal Deletion, includingYWHAE, but not PAFAH1B1,associated with normal brainstructure on MRI in a younggirl.Cong Anom 52 106-110 2012Am J MedGenet Part A158A 2347-2352 2012Asakura Y, Muroya K, Sato T,Kurosawa K, Nishimura G,Adachi M.First case of a Japanese girlwith Myre syndrome due to aheterozygous SMAD4mutation.Am J MedGenet A.158 1982-6 2012Thu Tran TH, Zhang Z, Yagi M, Molecular characterization ofJ Hum Genet 58(1)33-92013Lee T, Awano H, Nishida A,Okinaga T, Takeshima Y,Matsuo M.an X(p21.2;q28) chromosomalinversion in a Duchennemuscular dystrophy patientwith mental retardationreveals a novel long non-codinggene on Xq28.Yamamoto T, Tanaka H,Matsumoto K, Lee T, Awano H,Yagi M, Imanishi T, Hayashi N,Takeshima Y, Kawai H,Kawano S, Hirata KI.Utility of TransmuralMyocardial Strain Profile forPrediction of Early LeftVentricular Dysfunction inPatients With DuchenneMuscular Dystrophy.Am J Cardiol. 902-7 111(6) 2013Lee T, Takeshima Y, OkizukaY, Hamahira K, Kusunoki N,Awano H, Yagi M, Sakai N,Matsuo M, Iijima K.A Japanese child withgeleophysic dysplasia causedby a novel mutation of FBN1.Gene. 512(2) 456-9 2013─67─