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Items: 1 to 50 of 532

1.

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M, Ishigaki K, Sakaue S, Momozawa Y, Horikoshi M, Hirata M, Matsuda K, Ikegawa S, Takahashi A, Kanai M, Suzuki S, Matsui D, Naito M, Yamaji T, Iwasaki M, Sawada N, Tanno K, Sasaki M, Hozawa A, Minegishi N, Wakai K, Tsugane S, Shimizu A, Yamamoto M, Okada Y, Murakami Y, Kubo M, Kamatani Y.

Nat Commun. 2019 Sep 27;10(1):4393. doi: 10.1038/s41467-019-12276-5.

2.

Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.

Kou I, Otomo N, Takeda K, Momozawa Y, Lu HF, Kubo M, Kamatani Y, Ogura Y, Takahashi Y, Nakajima M, Minami S, Uno K, Kawakami N, Ito M, Yonezawa I, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Nakamura M, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Sato T, Inami S, Matsumoto M, Terao C, Watanabe K, Ikegawa S.

Nat Commun. 2019 Aug 15;10(1):3685. doi: 10.1038/s41467-019-11596-w.

3.

Association of Susceptibility Genes for Adolescent Idiopathic Scoliosis and Intervertebral Disc Degeneration With Adult Spinal Deformity.

Takeda K, Kou I, Hosogane N, Otomo N, Yagi M, Kaneko S, Kono H, Ishikawa M, Takahashi Y, Ikegami T, Nojiri K, Okada E, Funao H, Okuyama K, Tsuji T, Fujita N, Nagoshi N, Tsuji O, Ogura Y, Ishii K, Nakamura M, Matsumoto M, Ikegawa S, Watanabe K.

Spine (Phila Pa 1976). 2019 Dec 1;44(23):1623-1629. doi: 10.1097/BRS.0000000000003179.

PMID:
31365516
4.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T.

Eur J Hum Genet. 2019 Dec;27(12):1845-1857. doi: 10.1038/s41431-019-0473-7. Epub 2019 Jul 22.

PMID:
31332306
5.

Plasma exchange eliminates residual mogamulizumab but does not warrant prompt recovery of peripheral Treg levels.

Sugiura H, Matsuoka KI, Sando Y, Meguri Y, Ikegawa S, Nakamura M, Iwamoto M, Yoshioka T, Asano T, Kondo E, Fujii K, Fujii N, Maeda Y.

Transfus Apher Sci. 2019 Aug;58(4):472-474. doi: 10.1016/j.transci.2019.05.011. Epub 2019 Jul 9.

PMID:
31303512
6.

A population-based study identifies an association of THBS2 with intervertebral disc degeneration.

Deguchi T, Hashizume H, Nakajima M, Teraguchi M, Akune T, Yamada H, Tanaka S, Yoshimura N, Nojima M, Yoshida M, Ikegawa S.

Osteoarthritis Cartilage. 2019 Oct;27(10):1501-1507. doi: 10.1016/j.joca.2019.06.001. Epub 2019 Jun 21.

PMID:
31233787
7.

TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.

Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu NH, Nakashima T, Nishimura G, Ikegawa S, Guo L.

J Bone Miner Res. 2019 Oct;34(10):1873-1879. doi: 10.1002/jbmr.3805. Epub 2019 Aug 5.

PMID:
31163101
8.

Macrophage elimination in bone marrow by dexamethasone palmitate is associated with successful engraftment in patients with hemophagocytic syndrome.

Sugiura H, Matsuoka KI, Matsuda M, Ikegawa S, Inomata T, Kuroi T, Asano T, Yoshida S, Nishimori H, Fujii K, Fujii N, Maeda Y.

Int J Hematol. 2019 Aug;110(2):260-262. doi: 10.1007/s12185-019-02659-1. Epub 2019 May 16. No abstract available.

PMID:
31098853
9.

GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture.

Matoba N, Akiyama M, Ishigaki K, Kanai M, Takahashi A, Momozawa Y, Ikegawa S, Ikeda M, Iwata N, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y.

Nat Hum Behav. 2019 May;3(5):471-477. doi: 10.1038/s41562-019-0557-y. Epub 2019 Mar 25.

PMID:
31089300
10.

[Transfusion-associated circulatory overload with pulmonary alveolar hemorrhage following allogeneic bone marrow transplantation].

Adachi H, Doki N, Hino Y, Senoo Y, Ikegawa S, Watanabe D, Inamoto K, Yoshioka K, Najima Y, Kobayashi T, Kakihana K, Haraguchi K, Kitahara Y, Okuyama Y, Sakamaki H, Ohashi K.

Rinsho Ketsueki. 2019;60(4):296-301. doi: 10.11406/rinketsu.60.296. Japanese.

PMID:
31068559
11.

Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.

Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S.

J Med Genet. 2019 Sep;56(9):622-628. doi: 10.1136/jmedgenet-2018-105920. Epub 2019 Apr 22.

PMID:
31015262
12.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S.

Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.

13.

A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis.

Takeda K, Kou I, Otomo N, Grauers A, Fan YH, Ogura Y, Takahashi Y, Momozawa Y, Einarsdottir E, Kere J; Japan Scoliosis Clinical Research Group (JSCRG), Matsumoto M, Qiu Y, Song YQ, Gerdhem P, Watanabe K, Ikegawa S.

J Hum Genet. 2019 May;64(5):493-498. doi: 10.1038/s10038-019-0575-7. Epub 2019 Feb 21.

PMID:
30787423
14.

Meta-Analysis of Genome-Wide Association Studies Identifies Three Loci Associated With Stiffness Index of the Calcaneus.

Lu HF, Hung KS, Chu HW, Wong HS, Kim J, Kim MK, Choi BY, Tai YT, Ikegawa S, Cho EC, Chang WC.

J Bone Miner Res. 2019 Jul;34(7):1275-1283. doi: 10.1002/jbmr.3703. Epub 2019 Mar 19.

PMID:
30779856
15.

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ.

Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14.

16.

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

Suzuki K, Akiyama M, Ishigaki K, Kanai M, Hosoe J, Shojima N, Hozawa A, Kadota A, Kuriki K, Naito M, Tanno K, Ishigaki Y, Hirata M, Matsuda K, Iwata N, Ikeda M, Sawada N, Yamaji T, Iwasaki M, Ikegawa S, Maeda S, Murakami Y, Wakai K, Tsugane S, Sasaki M, Yamamoto M, Okada Y, Kubo M, Kamatani Y, Horikoshi M, Yamauchi T, Kadowaki T.

Nat Genet. 2019 Mar;51(3):379-386. doi: 10.1038/s41588-018-0332-4. Epub 2019 Feb 4.

PMID:
30718926
17.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.

Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G.

Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14.

PMID:
30636772
18.

Ectopic expression of Klotho in fibroblast growth factor 23 (FGF23)-producing tumors that cause tumor-induced rickets/osteomalacia (TIO).

Kinoshita Y, Takashi Y, Ito N, Ikegawa S, Mano H, Ushiku T, Fukayama M, Nangaku M, Fukumoto S.

Bone Rep. 2018 Dec 31;10:100192. doi: 10.1016/j.bonr.2018.100192. eCollection 2019 Jun.

19.

Changes in Polyamine Content in Rice Bran due to Fermentation with Aspergillus oryzae Analyzed by LC/ESI-MS/MS Combined with Derivatization.

Horie Y, Goto A, Tsubuku S, Itoh M, Ikegawa S, Ogawa S, Higashi T.

Anal Sci. 2019 Apr 10;35(4):427-432. doi: 10.2116/analsci.18P483. Epub 2018 Dec 21.

20.

Identification of novel LFNG mutations in spondylocostal dysostosis.

Otomo N, Mizumoto S, Lu HF, Takeda K, Campos-Xavier B, Mittaz-Crettol L, Guo L, Takikawa K, Nakamura M, Yamada S, Matsumoto M, Watanabe K, Ikegawa S.

J Hum Genet. 2019 Mar;64(3):261-264. doi: 10.1038/s10038-018-0548-2. Epub 2018 Dec 10.

PMID:
30531807
21.

A genome-wide association study identifies new genes associated with developmental dysplasia of the hip.

Yan W, Hao Z, Tang S, Dai J, Zheng L, Yu P, Yan W, Han X, Xu X, Shi D, Ikegawa S, Teng H, Jiang Q.

Clin Genet. 2019 Mar;95(3):345-355. doi: 10.1111/cge.13483. Epub 2019 Jan 11.

PMID:
30511388
22.

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA.

Hum Mol Genet. 2018 Nov 15;27(22):3986-3998. doi: 10.1093/hmg/ddy306.

PMID:
30395268
23.

Integrative genomic analysis for the functional roles of ITPKC in bone mineral density.

Lu HF, Wong HS, Chen BK, Liao HT, Hsu YW, Ikegawa S, Cho EC, Hung KS, Chang WC.

Biosci Rep. 2018 Nov 30;38(6). pii: BSR20181481. doi: 10.1042/BSR20181481. Print 2018 Dec 21.

24.

Epigenetics for curve progression of adolescent idiopathic scoliosis.

Ogura Y, Matsumoto M, Ikegawa S, Watanabe K.

EBioMedicine. 2018 Nov;37:36-37. doi: 10.1016/j.ebiom.2018.10.015. Epub 2018 Oct 10. No abstract available.

25.

Cytomegalovirus meningitis in a patient with relapsed acute myeloid leukemia.

Harada K, Sekiya N, Ikegawa S, Sasaki S, Kobayashi T, Ohashi K.

Int J Hematol. 2019 Feb;109(2):233-238. doi: 10.1007/s12185-018-2544-x. Epub 2018 Oct 5.

PMID:
30291557
26.

Rapid saline infusion and/or drinking enhance skin sympathetic nerve activity components reduced by hypovolaemia and hyperosmolality in hyperthermia.

Kamijo YI, Okazaki K, Ikegawa S, Okada Y, Nose H.

J Physiol. 2018 Nov;596(22):5443-5459. doi: 10.1113/JP276633.

27.

Long-term outcomes in patients treated in the intensive care unit after hematopoietic stem cell transplantation.

Nakamura M, Fujii N, Shimizu K, Ikegawa S, Seike K, Inomata T, Sando Y, Fujii K, Nishimori H, Matsuoka KI, Morimatsu H, Maeda Y.

Int J Hematol. 2018 Dec;108(6):622-629. doi: 10.1007/s12185-018-2536-x. Epub 2018 Sep 20.

PMID:
30238198
28.

Screening of known disease genes in congenital scoliosis.

Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M; Japan Early Onset Scoliosis Research Group, Watanabe K, Ikegawa S.

Mol Genet Genomic Med. 2018 Nov;6(6):966-974. doi: 10.1002/mgg3.466. Epub 2018 Sep 9.

29.

Trans-Ethnic Polygenic Analysis Supports Genetic Overlaps of Lumbar Disc Degeneration With Height, Body Mass Index, and Bone Mineral Density.

Zhou X, Cheung CL, Karasugi T, Karppinen J, Samartzis D, Hsu YH, Mak TS, Song YQ, Chiba K, Kawaguchi Y, Li Y, Chan D, Cheung KM, Ikegawa S, Cheah KS, Sham PC.

Front Genet. 2018 Aug 3;9:267. doi: 10.3389/fgene.2018.00267. eCollection 2018.

30.

Neurolymphomatosis in the Cauda Equina Diagnosed by an Open Biopsy.

Sasaki R, Ohta Y, Yamada Y, Tadokoro K, Takahashi Y, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Yasuhara T, Date I, Ikegawa S, Fujii N, Abe K.

Intern Med. 2018 Dec 1;57(23):3463-3465. doi: 10.2169/internalmedicine.1049-18. Epub 2018 Aug 10.

31.

A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis.

Kou I, Watanabe K, Takahashi Y, Momozawa Y, Khanshour A, Grauers A, Zhou H, Liu G, Fan YH, Takeda K, Ogura Y, Zhou T, Iwasaki Y, Kubo M, Wu Z, Matsumoto M; Japan Scoliosis Clinical Research Group (JSCRG); Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Einarsdottir E, Kere J, Huang D, Qiu G, Qiu Y, Wise CA, Song YQ, Wu N, Su P, Gerdhem P, Ikegawa S.

Sci Rep. 2018 Aug 1;8(1):11575. doi: 10.1038/s41598-018-29011-7.

32.

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study, Zhang F, Wu Z, Lupski JR, Wu N.

Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17.

33.

A Method for Quantification of Tetrahydroglucocorticoid Glucuronides in Human Urine by LC/MS/MS with Isotope-coded Derivatization.

Matsumoto T, Yamazaki W, Jo A, Ogawa S, Mitamura K, Ikegawa S, Higashi T.

Anal Sci. 2018 Sep 10;34(9):1003-1009. doi: 10.2116/analsci.18SCP02. Epub 2018 Jun 8.

34.

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

Ürel-Demir G, Simsek-Kiper PO, Akgün-Doğan Ö, Göçmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K.

J Hum Genet. 2018 Sep;63(9):1003-1007. doi: 10.1038/s10038-018-0473-4. Epub 2018 Jun 8.

PMID:
29884795
35.

Dysosteosclerosis is also caused by TNFRSF11A mutation.

Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S.

J Hum Genet. 2018 Jun;63(6):769-774. doi: 10.1038/s10038-018-0447-6. Epub 2018 Mar 22.

PMID:
29568001
36.

An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis.

Ogura Y, Takeda K, Kou I, Khanshour A, Grauers A, Zhou H, Liu G, Fan YH, Zhou T, Wu Z, Takahashi Y, Matsumoto M; Japan Scoliosis Clinical Research Group (JSCRG); Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Einarsdottir E, Kere J, Huang D, Qiu G, Xu L, Qiu Y, Wise CA, Song YQ, Wu N, Su P, Gerdhem P, Watanabe K, Ikegawa S.

Sci Rep. 2018 Mar 16;8(1):4730. doi: 10.1038/s41598-018-22552-x.

37.

A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst.

Ogura Y, Yabuki S, Fujibayashi S, Okada E, Iwanami A, Watanabe K, Nakamura M, Matsumoto M, Ishii K, Ikegawa S.

J Orthop Sci. 2018 May;23(3):455-458. doi: 10.1016/j.jos.2018.01.010. Epub 2018 Feb 16.

PMID:
29459084
38.

Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report.

Ushijima T, Kawaguchi K, Matsumoto T, Takagi M, Kondoh T, Nishimura G, Iida A, Ikegawa S, Haga N, Kato G.

BMC Res Notes. 2018 Feb 7;11(1):106. doi: 10.1186/s13104-018-3227-7.

39.

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

Kanai M, Akiyama M, Takahashi A, Matoba N, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y.

Nat Genet. 2018 Mar;50(3):390-400. doi: 10.1038/s41588-018-0047-6. Epub 2018 Feb 5.

PMID:
29403010
40.

Progressive multifocal leukoencephalopathy after T-cell replete HLA-haploidentical transplantation with post-transplantation cyclophosphamide graft-versus-host disease prophylaxis.

Ikegawa S, Fujii N, Tadokoro K, Sato K, Iwamoto M, Matsuda M, Inomata T, Sugiura H, Asano T, Yoshida S, Nishimori H, Matsuoka KI, Maeda Y.

Transpl Infect Dis. 2018 Apr;20(2):e12850. doi: 10.1111/tid.12850. Epub 2018 Mar 1.

PMID:
29359846
41.

Mild renal dysfunction defined by creatinine clearance rate has limited impact on clinical outcomes after allogeneic hematopoietic stem cell transplantation.

Ikegawa S, Matsuoka KI, Inomata T, Ikeda N, Sugiura H, Kuroi T, Asano T, Yoshida S, Nishimori H, Fujii N, Kondo E, Maeda Y, Tanimoto M.

Int J Hematol. 2018 May;107(5):568-577. doi: 10.1007/s12185-017-2398-7. Epub 2018 Jan 4.

PMID:
29299798
42.

CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.

Einarsdottir E, Grauers A, Wang J, Jiao H, Escher SA, Danielsson A, Simony A, Andersen M, Christensen SB, Åkesson K, Kou I, Khanshour AM, Ohlin A, Wise C, Ikegawa S, Kere J, Gerdhem P.

PLoS One. 2017 Dec 14;12(12):e0189591. doi: 10.1371/journal.pone.0189591. eCollection 2017.

43.

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.

Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA.

Am J Med Genet A. 2018 Jan;176(1):253-256. doi: 10.1002/ajmg.a.38550. Epub 2017 Nov 21.

44.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.

Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.

45.

Genome-wide Association Study of Idiopathic Osteonecrosis of the Femoral Head.

Sakamoto Y, Yamamoto T, Sugano N, Takahashi D, Watanabe T, Atsumi T, Nakamura J, Hasegawa Y, Akashi K, Narita I, Miyamoto T, Takeuchi T, Ikari K, Amano K, Fujie A, Kubo T, Tada Y, Kaneuji A, Nakamura H, Miyamura T, Kabata T, Yamaji K, Okawa T, Sudo A, Ohzono K, Tanaka Y, Yasunaga Y, Matsuda S, Imai Y; Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head, Akiyama M, Kubo M, Kamatani Y, Iwamoto Y, Ikegawa S.

Sci Rep. 2017 Nov 8;7(1):15035. doi: 10.1038/s41598-017-14778-y.

46.

A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis.

Ogura Y, Kou I, Takahashi Y, Takeda K, Minami S, Kawakami N, Uno K, Ito M, Yonezawa I, Kaito T, Yanagida H, Watanabe K, Taneichi H, Harimaya K, Taniguchi Y, Kotani T, Tsuji T, Suzuki T, Sudo H, Fujita N, Yagi M, Chiba K, Kubo M, Kamatani Y, Nakamura M, Matsumoto M; Japan Scoliosis Clinical Research Group, Watanabe K, Ikegawa S; Japan Scoliosis Clinical Research Group.

Hum Mol Genet. 2017 Oct 15;26(20):4086-4092. doi: 10.1093/hmg/ddx291.

PMID:
29016859
47.

Response to Lefebvre et al.

Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S.

Clin Genet. 2017 Nov;92(5):563-564. doi: 10.1111/cge.13011.

PMID:
28990171
48.

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.

Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S.

Hum Genome Var. 2017 Oct 5;4:17040. doi: 10.1038/hgv.2017.40. eCollection 2017.

49.

A Replication Study for the Association of rs11190870 With Curve Severity in Adolescent Idiopathic Scoliosis in Japanese.

Takahashi Y, Kou I, Ogura Y, Miyake A, Takeda K, Nakajima M, Minami S, Kawakami N, Uno K, Ito M, Yonezawa I, Kaito T, Yanagida H, Watanabe K, Taneichi H, Harimaya K, Taniguchi Y, Kotani T, Tsuji T, Suzuki T, Sudo H, Fujita N, Yagi M, Chiba K, Kono K, Sakuma T, Akazawa T, Nishida K, Kakutani K, Shigematsu H, Iida T, Demura S, Hosogane N, Okada E, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S.

Spine (Phila Pa 1976). 2018 May 15;43(10):688-692. doi: 10.1097/BRS.0000000000002413.

PMID:
28902104
50.

Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

Akiyama M, Okada Y, Kanai M, Takahashi A, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Iwasaki M, Yamaji T, Sawada N, Hachiya T, Tanno K, Shimizu A, Hozawa A, Minegishi N, Tsugane S, Yamamoto M, Kubo M, Kamatani Y.

Nat Genet. 2017 Oct;49(10):1458-1467. doi: 10.1038/ng.3951. Epub 2017 Sep 11.

PMID:
28892062

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