U.S. Department of Health and Human Services


A selection of recent and significant publications can be viewed below.

Hayward BE, Zhou Y, Kumari D, Usdin K. A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders. J Mol Diagn. 2016 Aug 8; 18 (2016 Aug 8; 5; 18):762-74. [Full Text/Abstract]
Kumari D, Usdin K. Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27. Hum Mol Genet. 2016 Jul 4; 25 (25; 2016 Jul 4; 17):3689-3698. [Full Text/Abstract]
Zhao XN, Kumari D, Gupta S, Wu D, Evanitsky M, Yang W, Usdin K. Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders. Hum Mol Genet. 2015 Sep 29; 24 (2015 Sep 29; 24):7087-96. [Full Text/Abstract]
Kumari D, Hayward B, Nakamura AJ, Bonner WM, Usdin K. Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia. Mutat Res. 2015 Aug 30; 781 (2015 Aug 30; 781):14-21. [Full Text/Abstract]
Kumari D, Swaroop M, Southall N, Huang W, Zheng W, Usdin K. High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells. Stem Cells Transl Med. 2015 May 21; 4 (7; 4; 2015 May 21):800-8. [Full Text/Abstract]
Usdin K, Kumari D. Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders. Front Genet. 2015 Jun 3; 6 (6; 2015 Jun 3):192. [Full Text/Abstract]
Kumari D, Bhattacharya A, Nadel J, Moulton K, Zeak NM, Glicksman A, Dobkin C, Brick DJ, Schwartz PH, Smith CB, Klann E, Usdin K. Identification of fragile x syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs. Hum Mutat. 2014 Sep 16; 35 (35; 2014 Sep 16; 12):1485-94. [Full Text/Abstract]
Kumari D, Usdin K. Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription. Hum Mol Genet. 2014 Jul 23; 23 (23; 2014 Jul 23; 24):6575-83. [Full Text/Abstract]
Yudkin D, Hayward BE, Aladjem MI, Kumari D, Usdin K. Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome. Hum Mol Genet. 2014 Jun 1; 23 (2014 Jun 1; 23; 11):2940-52. [Full Text/Abstract]
Usdin K, Hayward BE, Kumari D, Lokanga RA, Sciascia N, Zhao XN. Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders. Front Genet. 2014 Jul 17; 5 (2014 Jul 17; 5):226. [Full Text/Abstract]
Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K. Somatic expansion in mouse and human carriers of fragile X premutation alleles. Hum Mutat. 2013 Jan; 34 (34; 1; 2013 Jan):157-66. [Full Text/Abstract]
Kumari D, Lokanga R, Yudkin D, Zhao XN, Usdin K. Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia. Biochim Biophys Acta. 2012 Jul; 1819 (7; 2012 Jul; 1819):802-10. [Full Text/Abstract]
Kumari D, Usdin K. Is Friedreich ataxia an epigenetic disorder?. Clin Epigenetics. 2012 Jan 30; 4 (4; 2012 Jan 30; 1):2. [Full Text/Abstract]
Kumari D, Biacsi RE, Usdin K. Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells. J Biol Chem. 2011 Feb 11; 286 (6; 2011 Feb 11; 286):4209-15. [Full Text/Abstract]
Kumari D, Usdin K. The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome. Hum Mol Genet. 2010 Dec 1; 19 (23; 19; 2010 Dec 1):4634-42. [Full Text/Abstract]
Kumari D, Somma V, Nakamura AJ, Bonner WM, D'Ambrosio E, Usdin K. The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome. Nucleic Acids Res. 2009 Jul; 37 (37; 2009 Jul; 13):4385-92. [Full Text/Abstract]
Kumari D, Usdin K. Chromatin remodeling in the noncoding repeat expansion diseases. J Biol Chem. 2009 Mar 20; 284 (2009 Mar 20; 284; 12):7413-7. [Full Text/Abstract]
Biacsi R, Kumari D, Usdin K. SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome. PLoS Genet. 2008 Mar 7; 4 (2008 Mar 7; 4; 3):e1000017. [Full Text/Abstract]
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 2007; 35 (35; 10; 2007):3383-90. [Full Text/Abstract]
Handa V, Goldwater D, Stiles D, Cam M, Poy G, Kumari D, Usdin K. Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles. FEBS Lett. 2005 May 9; 579 (2005 May 9; 579; 12):2702-8. [Full Text/Abstract]
Kumari D, Gabrielian A, Wheeler D, Usdin K. The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter. Biochem J. 2005 Mar 1; 386 (Pt 2; 2005 Mar 1; 386):297-303. [Full Text/Abstract]
Greene E, Entezam A, Kumari D, Usdin K. Ancient repeated DNA elements and the regulation of the human frataxin promoter. Genomics. 2005 Feb; 85 (85; 2005 Feb; 2):221-30. [Full Text/Abstract]
Kumari D, Mital A, Gupta M, Goyle S. Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: use in carrier diagnosis. Neurol India. 2003 Jun; 51 (2003 Jun; 2; 51):223-6. [Full Text/Abstract]
Kumari D, Usdin K. Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome. J Biol Chem. 2001 Feb 9; 276 (6; 276; 2001 Feb 9):4357-64. [Full Text/Abstract]
Kumari D, Gupta M, Goyle S. Detection of deletion in the dystrophin gene of a patient with quadriceps myopathy. Neurol India. 2000 Mar; 48 (2000 Mar; 48; 1):68-71. [Full Text/Abstract]
Mital A, Kumari D, Gupta M, Goyle S. Molecular characterisation of Duchenne muscular dystrophy and phenotypic correlation. J Neurol Sci. 1998 May 7; 157 (157; 1998 May 7; 2):179-86. [Full Text/Abstract]