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research:progress [2010/10/14 18:45] – reformatting danielresearch:progress [2014/05/04 17:38] (current) – external edit 127.0.0.1
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 Although [[http://www.hibm.org/grantguideline | ARM’s grant guideline]] requires reporting of manuscripts, publications and presentations resulting from an ARM funded projects, all publications benefiting from ARM’s support may not be reported to ARM.  Below are a non-comprehensive list of publications, posters and manuscripts that have benefited from ARM’s support, resources, and patient referrals. Although [[http://www.hibm.org/grantguideline | ARM’s grant guideline]] requires reporting of manuscripts, publications and presentations resulting from an ARM funded projects, all publications benefiting from ARM’s support may not be reported to ARM.  Below are a non-comprehensive list of publications, posters and manuscripts that have benefited from ARM’s support, resources, and patient referrals.
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 ===== Publications ===== ===== Publications =====
-  - [[http://www.ncbi.nlm.nih.gov/pubmed/20440751 | 2010]] Nemunaitis G, Maples PB, Jay C, Gahl WA, Huizing M, Poling J, Tong AW, Phadke AP, Pappen BO, Bedell C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J..  Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy.J Gene Med. 2010 May;12(5):403-12.PMID: 2044075+  - [[http://www.ncbi.nlm.nih.gov/pubmed/21517694 | 2011]] Nemunaitis G, Jay CM, Maples PB, Gahl WA, Huizing M, Yardeni T, Tong AW, Phadke AP, Pappen BO, Bedell C, Allen H, Hernandez C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J.  Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex.  Hum Gene Ther. 2011 Apr 25. [Epub ahead of print]. PMID: 21517694
   - [[http://www.ncbi.nlm.nih.gov/pubmed/19448634 |2009]] - Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I.  Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.  Nat Med. 2009 Jun;15(6):690-5.PMID: 19448634 [PubMed - indexed for MEDLINE]   - [[http://www.ncbi.nlm.nih.gov/pubmed/19448634 |2009]] - Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I.  Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.  Nat Med. 2009 Jun;15(6):690-5.PMID: 19448634 [PubMed - indexed for MEDLINE]
   - [[http://www.la-press.com/article.php?article_id=881 |2008]] - Jay C, Nemunaitis G, Nemunaitis J, Senzer N, Hinderlich S, Darvish D, Ogden J, Eager J, Tong A, Maples P.  Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2).  Gene Regulation and Systems Biology, Jun 20, 2008, 2008(2):243-252   - [[http://www.la-press.com/article.php?article_id=881 |2008]] - Jay C, Nemunaitis G, Nemunaitis J, Senzer N, Hinderlich S, Darvish D, Ogden J, Eager J, Tong A, Maples P.  Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2).  Gene Regulation and Systems Biology, Jun 20, 2008, 2008(2):243-252
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   - [[http://www.ncbi.nlm.nih.gov/pubmed/17962939 |2008]] - Adler RS, Garolfalo G, Paget S, Kagen L. Muscle sonography in six patients with hereditary inclusion body myopathy. Skeletal Radiol. 2008 Jan;37(1):43-8. Epub 2007 Oct 26. PMID: 17962939\\   - [[http://www.ncbi.nlm.nih.gov/pubmed/17962939 |2008]] - Adler RS, Garolfalo G, Paget S, Kagen L. Muscle sonography in six patients with hereditary inclusion body myopathy. Skeletal Radiol. 2008 Jan;37(1):43-8. Epub 2007 Oct 26. PMID: 17962939\\
   - [[http://www.ncbi.nlm.nih.gov/pubmed/17549255 |2007]] - Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest. 2007 Jun;117(6):1585-94. PMID: 17549255\\   - [[http://www.ncbi.nlm.nih.gov/pubmed/17549255 |2007]] - Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest. 2007 Jun;117(6):1585-94. PMID: 17549255\\
-  - [[http://www.ncbi.nlm.nih.gov/pubmed/17261181 | 2007]] Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA.  Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.  BMC Neurol. 2007 Jan 29;7:3.PMID: 17261181+  - [[http://www.ncbi.nlm.nih.gov/pubmed/17261181 | 2007]] - Sparks S, Rakocevic G, Joe G, Manoli I, Shrader J, Harris-Love M, Sonies B, Ciccone C, Dorward H, Krasnewich D, Huizing M, Dalakas MC, Gahl WA.  Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.  BMC Neurol. 2007 Jan 29;7:3.PMID: 17261181
   - [[http://www.ncbi.nlm.nih.gov/pubmed/16847058 | 2006]] - Wang Z, Sun Z, Li AV, Yarema KJ. Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation. J Biol Chem. 2006 Sep 15;281(37):27016-28. Epub 2006 Jul 17. PMID: 16847058   - [[http://www.ncbi.nlm.nih.gov/pubmed/16847058 | 2006]] - Wang Z, Sun Z, Li AV, Yarema KJ. Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation. J Biol Chem. 2006 Sep 15;281(37):27016-28. Epub 2006 Jul 17. PMID: 16847058
   - [[http://www.ncbi.nlm.nih.gov/pubmed/12409274 | 2002]] - Darvish D, Vahedifar P, Huo Y. Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab. 2002 Nov;77(3):252-6.   - [[http://www.ncbi.nlm.nih.gov/pubmed/12409274 | 2002]] - Darvish D, Vahedifar P, Huo Y. Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab. 2002 Nov;77(3):252-6.
   - [[http://www.ncbi.nlm.nih.gov/pubmed/11916006 | 2002]] - Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase / N-acetylmannosamine kinase gene (GNE). J Hum Genet. 2002;47(2):77-9.   - [[http://www.ncbi.nlm.nih.gov/pubmed/11916006 | 2002]] - Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase / N-acetylmannosamine kinase gene (GNE). J Hum Genet. 2002;47(2):77-9.
   - [[http://www.ncbi.nlm.nih.gov/pubmed/11528398 | 2001]] - Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7.   - [[http://www.ncbi.nlm.nih.gov/pubmed/11528398 | 2001]] - Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7.
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-===== Poster Presentations ===== 
-  * D. Darvish, Y. Valles, S. Darvish, J. Orozco, O. Scremin, G. Lawson, B. Darvish.  Mixed Inbred GneM712T/M712T Mice Show Increased Survival, Attenuated Kidney Disease, and Altered NeuGc/NeuAc Profile. Poster #971.  American Society of Human Genetics (ASHG), 2007 Annual Meeting, San Diego, CA. 
-  * Y. Valles-Ayoub, C. Saechao, A. Haghighatgoo, M. S. Neshat, M. Pietruszka, D. Darvish.  Validation of GNE:pM712T Identification by Melting Curve Analysis.  Poster #1256.  American Society of Human Genetics (ASHG), 2007 Annual Meeting, San Diego, CA. 
-  * E. Klootwijk, I. Manoli, D. Hickey, C. Ciccone, D. Darvish, D. Krasnewich, W. A. Gahl, M. Huizing.  N-acetylmannosamine therapy for podocytopathies and other kidney disorders due to hyposialylation.  Poster #2246.  American Society of Human Genetics (ASHG), 2007 Annual Meeting, San Diego, CA. 
-  * M. Huizing, R Klootwijk; V. Galeano, I. Manoli, M. Sun, C. Ciccone, D. Darvish, D. Krasnewich, W. A. Gahl.  N-Acetylmannosamine treatment rescues a mouse model of Hereditary Inclusion Body Myopathy.  Society of Glycobiology, 2006 Annual Meeting, Los Angeles, CA. 
-  * PB. Maples, D Darvish, G Nemunaitis, E Chang, J Ogden, J Nemunaitis. GNE Gene Replacement in Hereditary Inclusion Body Myopathy.  Molecular Therapy 13, S215 - S216 (01 May 2006) Abstract.   
-  * PB Maples, PhD; D Darvish, MD; G Nemunaitis, MD; E Chang, PhD; J Ogden, RN, J Nemunaitis, MD. GNE Gene Replacement in Hereditary Inclusion Body Myopathy (poster #560).  American Society of Gene Therapy, 9th annual meting, Baltimore, MA, May 31 – June 4, 2006. 
-  * Zhiyun Wang, Hao Chen, Zhonghui Sun & Kevin J. Yarema, 2005 Beckman Young Investigators Symposium: A Systems Biology Approach to the Study of Sialic Acid Metabolism: Is HIBM caused by Abnormal Sialic Acid Production?  Baltimore, MD. 426 & 27 August 2005.  
-  * E. Gottlieb, C. Ciccone, D. Darvish, S. Naiem, P. Savelkoul, D. Krasnewich, W. Gahl, M. Huizing. Correlation between the age of onset/severity of Hereditary Inclusion Body Myopathy and polymorphisms within the dystroglycan gene. [#1709], American Society of Human Genetics, 54th Annual Meeting, Torondo, Canada, Oct 26-30, 2004. 
-  * Watts, J. Wymer, S. Mehta, S. Mumm, M. Whyte, A. Pestronk, D. Darvish, V.E. kimonis.  Mutations in the p97 gene cause familial Inclusion Body Myopathy assocated with Pagets disease of the bone and frontotemporal dementia.  [#48] American Society of Human Genetics, 53rd Annual Meeting, Los Angeles, CA, Nov 4-8, 2003. 
-  * S. Joughehdoust, Y. Shafeghati, M. Ataii, D. Darvish, M. Houshmand.  Investigation of mtDNA common deletion ina patient affected with HIBM,  [#719], American Society of Human Genetics, 53rd Annual Meeting, Los Angeles, CA, Nov 4-8, 2003. 
  
  
 ===== More Information? ===== ===== More Information? =====
-For more information regarding scientific accomplishments please contact [[http://hibm.org/hrg/pages/welcome/research-articles.php| HIBM Research Group]] +For more information regarding scientific accomplishments please contact [[http://www.hibm.org/hrg/hrgwww/fordoctors:research_articles | HIBM Research Group]]