Progresso

Risultati di ricerca derivanti da Finanziamenti & Servizi promossi da ARM.

Anche se la linea guida di sovvenzione ARM prevede l'elaborazione di relazioni di manoscritti, pubblicazioni e presentazioni derivanti da progetti finanziati, tutte le pubblicazioni che beneficiano delle condizioni di mercato non possono essere prese in considerazione. Qui di seguito un elenco di pubblicazioni, manifesti e manoscritti che hanno beneficiato del sostegno ARM.

1. 2008 - Valles-Ayoub Y, Saechao C, Haghighatgoo A, Neshat MS, Esfandiarifard S, Pietruszka M, Darvish D. Validation of GNE:p.M712T identification by melting curve analysis. Genet Test. 2008 Mar;12(1):101-9.PMID: 18373408
2. 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
3. 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
4. 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
5. 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
6. 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.
7. 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.

• 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.

Per ulteriori informazioni scientifiche sui risultati si prega di contattare il Gruppo di ricerca HIBM.