Shoji Ichikawa

Shoji Ichikawa

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Shoji Ichikawa

Shoji Ichikawa

Publications by authors named "Shoji Ichikawa"

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.

Endocrinology 2017 03;158(3):470-476

Department of Medicine, Indiana University School of Medicine, 1120 West Michigan St, CL459, Indianapolis, IN, USA.

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http://dx.doi.org/10.1210/en.2016-1642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460778PMC
March 2017

Nicotinamide treatment in a murine model of familial tumoral calcinosis reduces serum Fgf23 and raises heart calcium.

Bone 2014 Oct 4;67:139-44. Epub 2014 Jul 4.

Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2014.06.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157335PMC
October 2014

Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse.

Endocrinology 2014 Oct 22;155(10):3891-8. Epub 2014 Jul 22.

Departments of Medicine (S.I., A.K.G., L.R.P., N.M.S., M.J.E.), Anatomy and Cell Biology (M.R.A.), and Medical and Molecular Genetics (E.L.C., K.E.W., M.J.E), Indiana University School of Medicine, Indianapolis, Indiana 46202.

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https://scholarworks.iupui.edu/bitstream/handle/1805/5602/En
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http://press.endocrine.org/doi/abs/10.1210/en.2014-1199
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http://dx.doi.org/10.1210/en.2014-1199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4164931PMC
October 2014

High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis.

J Bone Miner Res 2014 Sep;29(9):2017-23

Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.

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http://dx.doi.org/10.1002/jbmr.2242DOI Listing
September 2014

SIBLING family genes and bone mineral density: association and allele-specific expression in humans.

Bone 2014 Jul 18;64:166-72. Epub 2014 Apr 18.

Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S87563282140014
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http://dx.doi.org/10.1016/j.bone.2014.04.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080809PMC
July 2014

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.

Bone 2014 Feb 29;59:53-6. Epub 2013 Oct 29.

Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1016/j.bone.2013.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3903128PMC
February 2014

Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models.

Bone 2014 Feb 1;59:66-75. Epub 2013 Nov 1.

Regenerative Medicine Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.bone.2013.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3889206PMC
February 2014

Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.

Calcif Tissue Int 2013 Aug 23;93(2):155-62. Epub 2013 May 23.

Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1007/s00223-013-9736-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742319PMC
August 2013

A novel Phex mutation in a new mouse model of hypophosphatemic rickets.

J Cell Biochem 2012 Jul;113(7):2432-41

Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/jcb.24115DOI Listing
July 2012

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions.

Bioinformatics 2012 Jul 18;28(14):1879-86. Epub 2012 May 18.

School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China.

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http://dx.doi.org/10.1093/bioinformatics/bts275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3389767PMC
July 2012

A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.

J Bone Miner Res 2012 Feb;27(2):453-60

Department of Medicine, Division of Endocrinology and Metabolism, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1002/jbmr.544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3288231PMC
February 2012

Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis.

Endocrinology 2011 Dec 18;152(12):4504-13. Epub 2011 Oct 18.

Department of Medicine, Division of Endocrinology and Metabolism, Indiana University School of Medicine, 541 North Clinical Drive, CL 459, Indianapolis, Indiana 46202, USA.

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http://dx.doi.org/10.1210/en.2011-1137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230057PMC
December 2011

Mosaicism in osteopathia striata with cranial sclerosis.

J Clin Endocrinol Metab 2010 Apr 11;95(4):1506-7. Epub 2010 Feb 11.

Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202-5121, USA.

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http://dx.doi.org/10.1210/jc.2009-2343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2853980PMC
April 2010

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.

J Clin Endocrinol Metab 2009 Nov 9;94(11):4433-8. Epub 2009 Oct 9.

Cleveland Clinic Lerner College of Medicine at Case Western Reserve University, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.

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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.2009-1535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775650PMC
November 2009

Discordance for X-linked hypophosphataemic rickets in identical twin girls.

Horm Res 2009 4;71(4):237-44. Epub 2009 Mar 4.

Institute of Human Genetics, Centre for Life, Newcastle University, Sir James Spence Institute for Child Health, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1159/000201113DOI Listing
June 2009

Genetics of familial tumoral calcinosis.

Am J Kidney Dis 2009 Mar;53(3):563-4

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http://dx.doi.org/10.1053/j.ajkd.2008.10.051DOI Listing
March 2009

Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adults.

Calcif Tissue Int 2009 Feb 18;84(2):97-102. Epub 2008 Dec 18.

Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Clinical Building 459, Indianapolis, IN 46202-5121, USA.

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http://dx.doi.org/10.1007/s00223-008-9200-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2822658PMC
February 2009

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.

Bone 2008 Oct 18;43(4):663-6. Epub 2008 Jun 18.

Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1016/j.bone.2008.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579265PMC
October 2008

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

J Clin Invest 2007 Sep;117(9):2684-91

Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202-5121, USA.

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http://dx.doi.org/10.1172/JCI31330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1940239PMC
September 2007

Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.

J Clin Endocrinol Metab 2007 May 20;92(5):1943-7. Epub 2007 Feb 20.

Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Clinical Building 459, Indianapolis, IN 46202-5121, USA.

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http://dx.doi.org/10.1210/jc.2006-1825DOI Listing
May 2007

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

J Clin Endocrinol Metab 2006 Nov 29;91(11):4472-5. Epub 2006 Aug 29.

Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202-5121, USA.

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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.2006-1247DOI Listing
November 2006

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.

J Clin Endocrinol Metab 2006 Oct 18;91(10):4022-7. Epub 2006 Jul 18.

Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Clinical Building 459, Indianapolis, IN 46202-5121, USA.

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http://dx.doi.org/10.1210/jc.2005-2840DOI Listing
October 2006

Human ALOX12, but not ALOX15, is associated with BMD in white men and women.

J Bone Miner Res 2006 Apr 5;21(4):556-64. Epub 2006 Apr 5.

Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202-5121, USA.

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http://doi.wiley.com/10.1359/jbmr.051212
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http://dx.doi.org/10.1359/jbmr.051212DOI Listing
April 2006

Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women.

J Clin Endocrinol Metab 2005 Nov 23;90(11):5921-7. Epub 2005 Aug 23.

Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Clinical Building 459, Indianapolis, Indiana 46202-5121, USA.

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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.2004-2253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1948071PMC
November 2005

A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

J Clin Endocrinol Metab 2005 Apr 1;90(4):2420-3. Epub 2005 Feb 1.

Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Clinical Building 459, Indianapolis, Indiana 46202-5121, USA.

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http://dx.doi.org/10.1210/jc.2004-2302DOI Listing
April 2005

Contribution of the LRP5 gene to normal variation in peak BMD in women.

J Bone Miner Res 2005 Jan 25;20(1):75-80. Epub 2004 Oct 25.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.

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http://doi.wiley.com/10.1359/JBMR.041019
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http://dx.doi.org/10.1359/JBMR.041019DOI Listing
January 2005