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Daman Kumari, Ph.D.
Daman Kumari.
Senior Associate Scientist: Gene Structure and Disease Section, Laboratory of Cell & Molecular Biology
Scientific Focus Areas: Cell Biology, Chromosome Biology, Molecular Biology and Biochemistry, RNA Biology, Stem Cell Biology

Publications

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

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.
Hayward B, Kumari D, Santra S, van Karnebeek CDM, van Kuilenburg ABP, Usdin K.
bioRxiv (2024 May 9) Abstract/Full Text
The fragile X locus is prone to spontaneous DNA damage that is preferentially repaired by nonhomologous end-joining to preserve genome integrity.
Kumari D, Lokanga RA, McCann C, Ried T, Usdin K.
iScience (2024 Feb 16) 27:108814. Abstract/Full Text
Common Threads: Aphidicolin-Inducible and Folate-Sensitive Fragile Sites in the Human Genome.
Lokanga RA, Kumari D, Usdin K.
Front Genet (2021) 12:708860. Abstract/Full Text
Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease.
Zhao X, Kumari D, Miller CJ, Kim GY, Hayward B, Vitalo AG, Pinto RM, Usdin K.
J Huntingtons Dis (2021) 10:149-163. Abstract/Full Text
Molecular analysis of FMR1 alleles for fragile X syndrome diagnosis and patient stratification.
Kumari D, Usdin K.
Expert Rev Mol Diagn (2020 Apr) 20:363-365. Abstract/Full Text
Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated FMR1 Alleles in Fragile X Syndrome Patient Derived Cells.
Kumari D, Sciascia N, Usdin K.
Genes (Basel) (2020 Mar 27) 11. Abstract/Full Text
Towards Mechanism-Based Treatments for Fragile X Syndrome.
Kumari D, Gazy I.
Brain Sci (2019 Aug 16) 9. Abstract/Full Text
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.
N Engl J Med (2019 Apr 11) 380:1433-1441. Abstract/Full Text
Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome.
Kumari D, Gazy I, Usdin K.
Brain Sci (2019 Feb 12) 9. Abstract/Full Text
Recent advances in assays for the fragile X-related disorders.
Hayward BE, Kumari D, Usdin K.
Hum Genet (2017 Oct) 136:1313-1327. Abstract/Full Text
CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.
Zhou Y, Kumari D, Sciascia N, Usdin K.
Mol Autism (2016) 7:42. Abstract/Full Text
Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27.
Kumari D, Usdin K.
Hum Mol Genet (2016 Sep 1) 25:3689-3698. Abstract/Full Text
A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.
Hayward BE, Zhou Y, Kumari D, Usdin K.
J Mol Diagn (2016 Sep) 18:762-774. Abstract/Full Text
Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders.
Zhao XN, Kumari D, Gupta S, Wu D, Evanitsky M, Yang W, Usdin K.
Hum Mol Genet (2015 Dec 15) 24:7087-96. Abstract/Full Text
Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.
Kumari D, Hayward B, Nakamura AJ, Bonner WM, Usdin K.
Mutat Res (2015 Nov) 781:14-21. Abstract/Full Text
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.
Kumari D, Swaroop M, Southall N, Huang W, Zheng W, Usdin K.
Stem Cells Transl Med (2015 Jul) 4:800-8. Abstract/Full Text
Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.
Usdin K, Kumari D.
Front Genet (2015) 6:192. Abstract/Full Text
Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription.
Kumari D, Usdin K.
Hum Mol Genet (2014 Dec 15) 23:6575-83. Abstract/Full Text
Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.
Kumari D, Bhattacharya A, Nadel J, Moulton K, Zeak NM, Glicksman A, Dobkin C, Brick DJ, Schwartz PH, Smith CB, Klann E, Usdin K.
Hum Mutat (2014 Dec) 35:1485-94. Abstract/Full Text
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders.
Usdin K, Hayward BE, Kumari D, Lokanga RA, Sciascia N, Zhao XN.
Front Genet (2014) 5:226. Abstract/Full Text
Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.
Yudkin D, Hayward BE, Aladjem MI, Kumari D, Usdin K.
Hum Mol Genet (2014 Jun 1) 23:2940-52. Abstract/Full Text
Somatic expansion in mouse and human carriers of fragile X premutation alleles.
Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K.
Hum Mutat (2013 Jan) 34:157-66. Abstract/Full Text
Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.
Kumari D, Lokanga R, Yudkin D, Zhao XN, Usdin K.
Biochim Biophys Acta (2012 Jul) 1819:802-10. Abstract/Full Text
Is Friedreich ataxia an epigenetic disorder?
Kumari D, Usdin K.
Clin Epigenetics (2012 Jan 30) 4:2. Abstract/Full Text
Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.
Kumari D, Biacsi RE, Usdin K.
J Biol Chem (2011 Feb 11) 286:4209-15. Abstract/Full Text
The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome.
Kumari D, Usdin K.
Hum Mol Genet (2010 Dec 1) 19:4634-42. Abstract/Full Text
The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome.
Kumari D, Somma V, Nakamura AJ, Bonner WM, D'Ambrosio E, Usdin K.
Nucleic Acids Res (2009 Jul) 37:4385-92. Abstract/Full Text
Chromatin remodeling in the noncoding repeat expansion diseases.
Kumari D, Usdin K.
J Biol Chem (2009 Mar 20) 284:7413-7. Abstract/Full Text
SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome.
Biacsi R, Kumari D, Usdin K.
PLoS Genet (2008 Mar 7) 4:e1000017. Abstract/Full Text
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K.
Nucleic Acids Res (2007) 35:3383-90. Abstract/Full Text
Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles.
Handa V, Goldwater D, Stiles D, Cam M, Poy G, Kumari D, Usdin K.
FEBS Lett (2005 May 9) 579:2702-8. Abstract/Full Text
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.
Kumari D, Gabrielian A, Wheeler D, Usdin K.
Biochem J (2005 Mar 1) 386:297-303. Abstract/Full Text
Ancient repeated DNA elements and the regulation of the human frataxin promoter.
Greene E, Entezam A, Kumari D, Usdin K.
Genomics (2005 Feb) 85:221-30. Abstract/Full Text
Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: use in carrier diagnosis.
Kumari D, Mital A, Gupta M, Goyle S.
Neurol India (2003 Jun) 51:223-6. Abstract/Full Text
Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia.
Greene E, Handa V, Kumari D, Usdin K.
Cytogenet Genome Res (2003) 100:65-76. Abstract/Full Text
Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiency.
Fleming K, Riser DK, Kumari D, Usdin K.
Cytogenet Genome Res (2003) 100:140-6. Abstract/Full Text
Fragile X syndrome and Friedreich's ataxia: two different paradigms for repeat induced transcript insufficiency.
Grabczyk E, Kumari D, Usdin K.
Brain Res Bull (2001 Oct-Nov 1) 56:367-73. Abstract/Full Text
Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome.
Kumari D, Usdin K.
J Biol Chem (2001 Feb 9) 276:4357-64. Abstract/Full Text
Detection of deletion in the dystrophin gene of a patient with quadriceps myopathy.
Kumari D, Gupta M, Goyle S.
Neurol India (2000 Mar) 48:68-71. Abstract/Full Text
Sequencing errors in reactions using labeled terminators.
Kumari D, Usdin K.
Biotechniques (1999 Oct) 27:648-50. Abstract/Full Text
Molecular characterisation of Duchenne muscular dystrophy and phenotypic correlation.
Mital A, Kumari D, Gupta M, Goyle S.
J Neurol Sci (1998 May 7) 157:179-86. Abstract/Full Text
Last Reviewed March 2024