Shiro Ikegawa

Shiro Ikegawa

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Shiro Ikegawa

Publications by authors named "Shiro Ikegawa"

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

J Bone Miner Res 2019 Jun 4. Epub 2019 Jun 4.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1002/jbmr.3805DOI Listing
June 2019

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

Clin Genet 2019 Mar 11;95(3):345-355. Epub 2019 Jan 11.

State Key Laboratory of Pharmaceutical Biotechnology, Department of Sports Medicine and Adult Reconstructive Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.

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http://dx.doi.org/10.1111/cge.13483DOI Listing
March 2019

Identification of novel LFNG mutations in spondylocostal dysostosis.

J Hum Genet 2019 Mar 10;64(3):261-264. Epub 2018 Dec 10.

Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.

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http://dx.doi.org/10.1038/s10038-018-0548-2DOI Listing
March 2019

Epigenetics for curve progression of adolescent idiopathic scoliosis.

EBioMedicine 2018 Nov 10;37:36-37. Epub 2018 Oct 10.

Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S23523964183042
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http://dx.doi.org/10.1016/j.ebiom.2018.10.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284410PMC
November 2018

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

J Hum Genet 2018 Sep 8;63(9):1003-1007. Epub 2018 Jun 8.

Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1038/s10038-018-0473-4DOI Listing
September 2018

Dysosteosclerosis is also caused by TNFRSF11A mutation.

J Hum Genet 2018 Jun 22;63(6):769-774. Epub 2018 Mar 22.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.

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http://dx.doi.org/10.1038/s10038-018-0447-6DOI Listing
June 2018

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

J Orthop Sci 2018 May 16;23(3):455-458. Epub 2018 Feb 16.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09492658183003
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http://dx.doi.org/10.1016/j.jos.2018.01.010DOI Listing
May 2018

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

Hum Genome Var 2017 5;4:17040. Epub 2017 Oct 5.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2017.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628180PMC
October 2017

Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.

J Orthop Sci 2017 Sep 23;22(5):967-971. Epub 2016 Feb 23.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jos.2016.01.010DOI Listing
September 2017

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

J Hum Genet 2017 Aug 23;62(8):797-801. Epub 2017 Mar 23.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2017.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537416PMC
August 2017

Lumbar disc degeneration progression in young women in their 20's: A prospective ten-year follow up.

J Orthop Sci 2017 Jul 18;22(4):635-640. Epub 2017 Apr 18.

Department of Orthopaedic Surgery, Faculty of Medicine, University of Toyama, Toyama, Japan.

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http://dx.doi.org/10.1016/j.jos.2017.03.015DOI Listing
July 2017

An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes.

Exp Anim 2017 May 8;66(2):137-144. Epub 2016 Dec 8.

Laboratory of Laboratory Animal Science and Medicine, Co-Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, 3-18-8 Ueda, Morioka, Iwate 020-8550, Japan.

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http://dx.doi.org/10.1538/expanim.16-0085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411300PMC
May 2017

Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.

J Orthop Res 2017 04 29;35(4):768-774. Epub 2016 May 29.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.

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http://dx.doi.org/10.1002/jor.23300DOI Listing
April 2017

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

J Hum Genet 2017 Apr 26;62(4):503-506. Epub 2017 Jan 26.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.157DOI Listing
April 2017

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

J Hum Genet 2017 Mar 10;62(3):437-441. Epub 2016 Nov 10.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.136DOI Listing
March 2017

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

J Hum Genet 2017 Mar 24;62(3):447-451. Epub 2016 Nov 24.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/jhg.2016.143DOI Listing
March 2017

Novel mutations causing progressive pseudorheumatoid dysplasia in two Chinese families.

Hum Genome Var 2016 8;3:16041. Epub 2016 Dec 8.

Department of Sports Medicine and Adult Reconstructive Surgery, Drum Tower Hospital, School of Medicine, Nanjing University , Jiangsu, China.

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http://dx.doi.org/10.1038/hgv.2016.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143363PMC
December 2016

Replication of Caucasian Loci Associated with Osteoporosis-related Traits in East Asians.

J Bone Metab 2016 Nov 30;23(4):233-242. Epub 2016 Nov 30.

Division of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.11005/jbm.2016.23.4.233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153380PMC
November 2016

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations.

Case Rep Pediatr 2016 28;2016:3198597. Epub 2016 Nov 28.

Department of Paediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.

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http://dx.doi.org/10.1155/2016/3198597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149639PMC
November 2016

Identification of DNA methylation changes associated with disease progression in subchondral bone with site-matched cartilage in knee osteoarthritis.

Sci Rep 2016 Sep 30;6:34460. Epub 2016 Sep 30.

Laboratory for International Alliance on Genomic Research, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043275PMC
http://dx.doi.org/10.1038/srep34460DOI Listing
September 2016

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.

J Med Genet 2016 08 7;53(8):568-74. Epub 2016 Apr 7.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan Department of Orthopaedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2016-103756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769692PMC
August 2016

Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation.

Am J Med Genet A 2016 08 5;170(8):2212-4. Epub 2016 Jun 5.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37744DOI Listing
August 2016

Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine.

Am J Hum Genet 2016 07 30;99(1):202-7. Epub 2016 Jun 30.

Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo 108-8639, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005442PMC
July 2016

A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity.

Hum Genome Var 2016 19;3:16007. Epub 2016 May 19.

Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University , Fukuoka, Japan.

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http://dx.doi.org/10.1038/hgv.2016.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871930PMC
June 2016

Genomic study of adolescent idiopathic scoliosis in Japan.

Authors:
Shiro Ikegawa

Scoliosis Spinal Disord 2016 1;11. Epub 2016 Apr 1.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639 Japan.

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http://dx.doi.org/10.1186/s13013-016-0067-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900236PMC
June 2016

A novel FOXC2 mutation in spinal extradural arachnoid cyst.

Hum Genome Var 2015 17;2:15032. Epub 2015 Sep 17.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2015.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785541PMC
April 2016

[Genome-wide association study for adolescent idiopathic scoliosis].

Clin Calcium 2016 Apr;26(4):553-60

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Japan.

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http://dx.doi.org/CliCa1604553500DOI Listing
April 2016

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

J Med Genet 2016 Mar 5;53(3):152-62. Epub 2015 Nov 5.

INSIGNEO Institute for in silico medicine, Sheffield University, Sheffield, UK Sheffield Institute for Translational Neuroscience, Sheffield University, Sheffield, UK Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789813PMC
March 2016

Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.

Biochem Biophys Res Commun 2015 Dec 4-11;468(1-2):86-91. Epub 2015 Nov 9.

Laboratory of Laboratory Animal Science and Medicine, Co-Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, 3-18-8 Ueda, Morioka, Iwate 020-8550, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2015.10.160DOI Listing
March 2016

Influence of intra-articular administration of trichostatin a on autologous osteochondral transplantation in a rabbit model.

Biomed Res Int 2015 18;2015:470934. Epub 2015 Mar 18.

Medical School of Nanjing University, Hankou Road, Nanjing, Jiangsu 210093, China ; The Center of Diagnosis and Treatment for Joint Disease, Nanjing Drum Tower Hospital Affiliated to Medical School of Nanjing University, Zhongshan Road, Nanjing, Jiangsu 210008, China ; Model Animal Research Center of Nanjing University, Xuefu Road, Nanjing, Jiangsu 210032, China.

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http://dx.doi.org/10.1155/2015/470934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381848PMC
December 2015

Genomic study of ossification of the posterior longitudinal ligament of the spine.

Authors:
Shiro Ikegawa

Proc Jpn Acad Ser B Phys Biol Sci 2014 ;90(10):405-12

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335137PMC
http://dx.doi.org/10.2183/pjab.90.405DOI Listing
August 2015

[Analysis of Musculoskeletal Systems and Their Diseases. Genomic medicine of bone and joint diseases : present and future].

Authors:
Shiro Ikegawa

Clin Calcium 2015 Aug;25(8):1125-31

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Japan.

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http://dx.doi.org/CliCa150811251131DOI Listing
August 2015

rs10865331 associated with susceptibility and disease severity of ankylosing spondylitis in a Taiwanese population.

PLoS One 2014 3;9(9):e104525. Epub 2014 Sep 3.

Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei, Taiwan; Department of Pharmacy, Taipei Medical University-Wanfang Hospital, Taipei, Taiwan; Master Program for Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei, Taiwan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0104525PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4153545PMC
May 2015

A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.

J Clin Endocrinol Metab 2015 Apr 9;100(4):1221-4. Epub 2015 Feb 9.

Developmental Endocrinology Research Group (A.K.L.-H., S.F.A.), School of Medicine, University of Glasgow, Royal Hospital for Sick Children (RHSC), Yorkhill, Glasgow, G3 8SJ United Kingdom; Department of Clinical Genetics (E.K.), Southern General Hospital, Glasgow, G51 4TF United Kingdom; Laboratory of Bone and Joint Diseases (A.I., Z.W., S.I.), Center for Integrative Medical Sciences, RIKEN, Tokyo 108-8639, Japan; Department of Human Genetics (N.M.), Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; and Department of Biochemistry (J.M.), Southern General Hospital, 1345 Govan Rd, Glasgow, G51 4TF United Kingdom.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-3852DOI Listing
April 2015

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.

Nat Commun 2015 Mar 18;6:6452. Epub 2015 Mar 18.

1] Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Research Department, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA [2] Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA [3] McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA [4] McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1038/ncomms7452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365504PMC
March 2015

A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

Eur J Med Genet 2015 Feb 5;58(2):105-10. Epub 2014 Dec 5.

Division of Genetics, MAMC Associated Lok Nayak Hospital, New Delhi, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.11.006DOI Listing
February 2015

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells.

Hum Mol Genet 2015 Jan 3;24(2):299-313. Epub 2014 Sep 3.

Cell Induction and Regulation Field, Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Japan Japan Science and Technology Agency, CREST, Tokyo, Japan

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http://hmg.oxfordjournals.org/content/early/2014/09/03/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu444
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu444DOI Listing
January 2015

FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.

PLoS One 2013 22;8(11):e80548. Epub 2013 Nov 22.

Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan ; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080548PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838418PMC
September 2014

Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.

Am J Med Genet A 2014 Sep 16;164A(9):2398-402. Epub 2014 Jun 16.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36648DOI Listing
September 2014

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.

Am J Med Genet A 2014 Sep 26;164A(9):2147-52. Epub 2014 Jun 26.

Department of Pediatrics, Section of Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar.

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http://doi.wiley.com/10.1002/ajmg.a.36632
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http://dx.doi.org/10.1002/ajmg.a.36632DOI Listing
September 2014

Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.

Nature 2014 Sep 17;513(7519):507-11. Epub 2014 Sep 17.

1] Cell Induction and Regulation Field, Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan [2] Japan Science and Technology Agency, CREST, Tokyo 102-0075, Japan.

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http://dx.doi.org/10.1038/nature13775DOI Listing
September 2014

A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups.

J Med Genet 2014 Jun 10;51(6):401-6. Epub 2014 Apr 10.

Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, USA Department of Orthopaedics, University of Texas Southwestern Medical Center at Dallas, Dallas, USA Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, USA McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, USA.

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http://dx.doi.org/10.1136/jmedgenet-2013-102067DOI Listing
June 2014

Genetics of ossification of the posterior longitudinal ligament of the spine: a mini review.

Authors:
Shiro Ikegawa

J Bone Metab 2014 May 31;21(2):127-32. Epub 2014 May 31.

Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan.

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http://dx.doi.org/10.11005/jbm.2014.21.2.127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075266PMC
May 2014

Cartilage intermediate layer protein promotes lumbar disc degeneration.

Biochem Biophys Res Commun 2014 Apr 14;446(4):876-81. Epub 2014 Mar 14.

Department of Orthopedic Surgery, Faculty of Medicine, University of Toyama, 2630 Sugitani, Toyama, Toyama 930-0194, Japan.

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http://dx.doi.org/10.1016/j.bbrc.2014.03.025DOI Listing
April 2014

The genetics of common degenerative skeletal disorders: osteoarthritis and degenerative disc disease.

Authors:
Shiro Ikegawa

Annu Rev Genomics Hum Genet 2013 ;14:245-56

Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo 108-8639, Japan; email:

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http://dx.doi.org/10.1146/annurev-genom-091212-153427DOI Listing
December 2013

[Collagen abnormalities and endoplasmic reticulum stress in bone and cartilage].

Clin Calcium 2013 Nov;23(11):1635-40

Laboratory of Laboratory Animal Science and Medicine, Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, Japan.

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http://dx.doi.org/CliCa131116351640DOI Listing
November 2013

Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.

Am J Med Genet A 2013 Aug 26;161A(8):1972-9. Epub 2013 Jun 26.

Department of Radiology, Ajou University Medical School, Suwon, Republic of Korea.

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http://dx.doi.org/10.1002/ajmg.a.36024DOI Listing
August 2013

Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.

J Biol Chem 2013 Apr 1;288(16):10953-61. Epub 2013 Mar 1.

Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science, Hokkaido University, Sapporo 001-0021 Japan.

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http://dx.doi.org/10.1074/jbc.R112.437038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3630846PMC
April 2013