Khajavi M - Search Results

1

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.

Khajavi M, Inoue K, Lupski JR. Khajavi M, et al. Eur J Hum Genet. 2006 Oct;14(10):1074-81. doi: 10.1038/sj.ejhg.5201649. Epub 2006 Jun 7. Eur J Hum Genet. 2006. PMID: 16757948 Review.

2

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

Ben-Shachar S, Khajavi M, Withers MA, Shaw CA, van Bokhoven H, Brunner HG, Lupski JR. Ben-Shachar S, et al. Among authors: khajavi m. Clin Genet. 2009 Apr;75(4):394-400. doi: 10.1111/j.1399-0004.2008.01114.x. Epub 2009 Feb 19. Clin Genet. 2009. PMID: 19236432

3

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR. Inoue K, et al. Among authors: khajavi m. Nat Genet. 2004 Apr;36(4):361-9. doi: 10.1038/ng1322. Epub 2004 Mar 7. Nat Genet. 2004. PMID: 15004559

4

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. Khajavi M, et al. Am J Hum Genet. 2005 Nov;77(5):841-50. doi: 10.1086/497541. Epub 2005 Sep 30. Am J Hum Genet. 2005. PMID: 16252242 Free PMC article.

5

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.

Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR. Khajavi M, et al. Am J Hum Genet. 2007 Sep;81(3):438-53. doi: 10.1086/519926. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701891 Free PMC article.

6

Balancing between adaptive and maladaptive cellular stress responses in peripheral neuropathy.

Khajavi M, Lupski JR. Khajavi M, et al. Neuron. 2008 Feb 7;57(3):329-30. doi: 10.1016/j.neuron.2008.01.017. Neuron. 2008. PMID: 18255024 Free article.

7

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. Zhang F, et al. Among authors: khajavi m. Nat Genet. 2009 Jul;41(7):849-53. doi: 10.1038/ng.399. Epub 2009 Jun 21. Nat Genet. 2009. PMID: 19543269 Free PMC article.

8

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Zhang F, et al. Among authors: khajavi m. Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493460 Free PMC article.

9

Curcumin facilitates a transitory cellular stress response in Trembler-J mice.

Okamoto Y, Pehlivan D, Wiszniewski W, Beck CR, Snipes GJ, Lupski JR, Khajavi M. Okamoto Y, et al. Among authors: khajavi m. Hum Mol Genet. 2013 Dec 1;22(23):4698-705. doi: 10.1093/hmg/ddt318. Epub 2013 Jul 11. Hum Mol Genet. 2013. PMID: 23847051 Free PMC article.

10

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.

Stankiewicz P, Inoue K, Bi W, Walz K, Park SS, Kurotaki N, Shaw CJ, Fonseca P, Yan J, Lee JA, Khajavi M, Lupski JR. Stankiewicz P, et al. Among authors: khajavi m. Cold Spring Harb Symp Quant Biol. 2003;68:445-54. doi: 10.1101/sqb.2003.68.445. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338647 Review. No abstract available.

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