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Agarwal Lab
See here for an up to date list of publications.
Belgacem ZH, Dubois SM, Jacoby E, Martin PL, Parikh SB, Fleming MD, Agarwal S.
Am J Hematol. 2023
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.
Lareau CA, Dubois SM, Buquicchio FA, Hsieh YH, Garg K, Kautz P, Nitsch L, Praktiknjo SD, Maschmeyer P, Verboon JM, Gutierrez JC, Yin Y, Fiskin E, Luo W, Mimitou EP, Muus C, Malhotra R, Parikh S, Fleming MD, Oevermann L, Schulte J, Eckert C, Kundaje A, Smibert P, Vardhana SA, Satpathy AT, Regev A, Sankaran VG, Agarwal S, Ludwig LS.
Nat Genet. 2023
Thymidine nucleotide metabolism controls human telomere length.
Mannherz W, Agarwal S.
Nat Genet. 2023
Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.
Nagpal N, Tai AK, Nandakumar J, Agarwal S.
Nucleic Acids Res. 2022
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
Renella R, Gagne K, Beauchamp E, Fogel J, Perlov A, Sola M, Schlaeger T, Hofmann I, Shimamura A, Ebert BL, Schmitz-Abe K, Markianos K, Murphy K, Sun L, Rockowitz S, Sliz P, Campagna DR, Springer TA, Bahl C, Agarwal S, Fleming MD, Williams DA.
Am J Hematol. 2022
Telomerase RNA recruits RNA polymerase II to target gene promoters to enhance myelopoiesis.
García-Castillo J, Alcaraz-Pérez F, Martínez-Balsalobre E, García-Moreno D, Rossmann MP, Fernández-Lajarín M, Bernabé-García M, Pérez-Oliva AB, Rodríguez-Cortez VC, Bueno C, Adatto I, Agarwal S, Menéndez P, Zon LI, Mulero V, Cayuela ML.
Proc Natl Acad Sci U S A. 2021
Hepatic vascular remodelling in a patient with dyskeratosis congenita.
Boyraz B, Agarwal S, Pratt DS, Simoneau T, Bhan I, Markmann JF, Misdraji J.
Histopathology. 2022
Mitochondrial function in development and disease.
Rossmann MP, Dubois SM, Agarwal S, Zon LI.
Dis Model Mech. 2021
The clinical and functional effects of TERT variants in myelodysplastic syndrome.
Reilly CR, Myllymäki M, Redd R, Padmanaban S, Karunakaran D, Tesmer V, Tsai FD, Gibson CJ, Rana HQ, Zhong L, Saber W, Spellman SR, Hu ZH, Orr EH, Chen MM, De Vivo I, DeAngelo DJ, Cutler C, Antin JH, Neuberg D, Garber JE, Nandakumar J, Agarwal S, Lindsley RC.
Blood. 2021
Short telomere length predicts nonrelapse mortality after stem cell transplantation for myelodysplastic syndrome.
Myllymäki M, Redd R, Reilly CR, Saber W, Spellman SR, Gibson CJ, Hu ZH, Wang T, Orr EH, Grenier JG, Chen MM, Steensma DP, Cutler C, De Vivo I, Antin JH, Neuberg D, Agarwal S, Lindsley RC.
Blood. 2020
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch A
A.J Pediatr. 2021
Telomerase RNA processing: Implications for human health and disease.
Nagpal N, Agarwal S.
Stem Cells. 2020
Shorter telomere length following lung transplantation is associated with clinically significant leukopenia and decreased chronic lung allograft dysfunction-free survival.
Courtwright AM, Lamattina AM, Takahashi M, Trindade AJ, Hunninghake GM, Rosas IO, Agarwal S, Raby BA, Goldberg HJ, El-Chemaly S.
ERJ Open Res. 2020
Impaired reproductive function and fertility preservation in a woman with a dyskeratosis congenita
Robinson LG Jr, Pimentel R, Wang F, Kramer YG, Gonullu DC, Agarwal S, Navarro PA, McCulloh D, Keefe DL.
J Assist Reprod Genet 2020
Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells
Nagpal N, Wang J, Zeng J, Lo E, Moon DH, Luk K, Braun RO, Burroughs LM, Keel SB, Reilly C, Lindsley RC, Wolfe SA, Tai AK, Cahan P, Bauer DE, Fong YW, Agarwal S.
Cell Stem Cell 2020
Understanding the evolving phenotype of vascular complications in telomere biology disorders
Higgs C, Crow YJ, Adams DM, Chang E, Hayes D Jr, Herbig U, Huang JN, Himes R, Jajoo K, Johnson FB, Reynolds SD, Yonekawa Y, Armanios M, Boulad F, DiNardo CD, Dufour C, Goldman FD, Khan S, Kratz C, Myers KC, Raghu G, Alter BP, Aubert G, Bhala S, Cowen EW, Dror Y, El-Youssef M, Friedman B, Giri N, Helms Guba L, Khincha PP, Lin TF, Longhurst H, McReynolds LJ, Nelson A, Olson T, Pariser A, Perona R, Sasa G, Schratz K, Simonetto DA, Townsley D, Walsh M, Stevens K, Agarwal S, Bertuch AA, Savage SA; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA).
Angiogenesis 2019
Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita
Agarwal S.
Hematol Oncol Clin North Am 2018
Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR-Cas9 genome editing
Paulsen BS, Mandal PK, Frock RL, Boyraz B, Yadav R, Upadhyayula S, Gutierrez-Martinez P, Ebina W, Fasth A, Kirchhausen T, Talkowski ME, Agarwal S, Alt FW, Rossi DJ.
Nat Biomed Eng 2017
Exudative Vitreoretinopathy in Dyskeratosis Congenita
Indaram M, Agarwal S, Yonekawa Y.
Ophthalmology 2017
Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors
Doulatov S, Vo LT, Macari ER, Wahlster L, Kinney MA, Taylor AM, Barragan J, Gupta M, McGrath K, Lee HY, Humphries JM, DeVine A, Narla A, Alter BP, Beggs AH, Agarwal S, Ebert BL, Gazda HT, Lodish HF, Sieff CA, Schlaeger TM, Zon LI, Daley GQ.
Sci Transl Med 2017
Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies
Gupta MP, Talcott KE, Kim DY, Agarwal S, Mukai S.
Ophthalmic Genet 2017
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders
Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T, Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA.
Eur Respir J 2017
Association of Donor and Recipient Telomere Length with Clinical Outcomes following Lung Transplantation
Courtwright AM, Fried S, Villalba JA, Moniodis A, Guleria I, Wood I, Milford E, Mallidi HH, Hunninghake GM, Raby BA, Agarwal S, Camp PC, Rosas IO, Goldberg HJ, El-Chemaly S.
PLoS One 2016
A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding
Boyraz B, Bellomo CM, Fleming MD, Cutler CS, Agarwal S. Blood 2016
Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease Boyraz B, Moon DH, Segal M, Muosieyiri MZ, Aykanat A, Tai AK, Cahan P, Agarwal S.
J Clin Invest 2016
Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component
Moon DH, Segal M, Boyraz B, Guinan E, Hofmann I, Cahan P, Tai AK, Agarwal S.
Nature Genetics 2015
Simultaneous sequencing of oxidized methylcytosines produced by TET/JBP dioxygenases in Coprinopsis cinerea
Chavez L, Huang Y, Luong K, Agarwal S, Iyer LM, Pastor WA, Hench VK, Frazier-Bowers SA, Korol E, Liu S, Tahiliani M, Wang Y, Clark TA, Korlach J, Pukkila PJ, Aravind L, Rao A.
Proc Natl Acad Sci U S A 2014
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia
Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S.
Blood 2014
Induced pluripotent stem cells with a mitochondrial DNA deletion
Cherry AB, Gagne KE, McLoughlin EM, Baccei A, Gorman B, Hartung O, Miller JD, Zhang J, Zon RL, Ince TA, Neufeld EJ, Lerou PH, Fleming MD, Daley GQ, Agarwal S.
Stem Cells 2013
A young adult with aplastic anemia and gray hair
Guinan EC, Agarwal S.
Clin Chem 2013
The GLIB technique for genome-wide mapping of 5-hydroxymethylcytosine
Pastor WA, Huang Y, Henderson HR, Agarwal S, Rao A.
Nat Protoc 2012
CTC1 Mutations in a patient with dyskeratosis congenita
Keller RB, Gagne KE, Usmani GN, Asdourian GK, Williams DA, Hofmann I, Agarwal S.
Pediatr Blood Cancer 2012
Telomere dynamics in dyskeratosis congenita: the long and the short of iPS
Agarwal S, Daley GQ.
Cell Res 2011
Genome-wide mapping of 5-hydroxymethylcytosine in embryonic stem cells
Pastor WA, Pape UJ, Huang Y, Henderson HR, Lister R, Ko M, McLoughlin EM, Brudno Y, Mahapatra S, Kapranov P, Tahiliani M, Daley GQ, Liu XS, Ecker JR, Milos PM, Agarwal S, Rao A.
Nature 2011
Somatic coding mutations in human induced pluripotent stem cells
Gore A, Li Z, Fung HL, Young JE, Agarwal S, Antosiewicz-Bourget J, Canto I, Giorgetti A, Israel MA, Kiskinis E, Lee JH, Loh YH, Manos PD, Montserrat N, Panopoulos AD, Ruiz S, Wilbert ML, Yu J, Kirkness EF, Izpisua Belmonte JC, Rossi DJ, Thomson JA, Eggan K, Daley GQ, Goldstein LS, Zhang K.
Nature 2011
Cellular therapy for fanconi anemia: the past, present, and future
MacMillan ML, Hughes MR, Agarwal S, Daley GQ.
Biol Blood Marrow Transplant 2011
Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies
Pessach IM, Ordovas-Montanes J, Zhang SY, Casanova JL, Giliani S, Gennery AR, Al-Herz W, Manos PD, Schlaeger TM, Park IH, Rucci F, Agarwal S, Mostoslavsky G, Daley GQ, Notarangelo LD.
J Allergy Clin Immunol 2011
Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2 Ko
M, Huang Y, Jankowska AM, Pape UJ, Tahiliani M, Bandukwala HS, An J, Lamperti ED, Koh KP, Ganetzky R, Liu XS, Aravind L, Agarwal S, Maciejewski JP, Rao A.
Nature 2010
Large intergenic non-coding RNA-RoR modulates reprogramming of human induced pluripotent stem cells
Loewer S, Cabili MN, Guttman M, Loh YH, Thomas K, Park IH, Garber M, Curran M, Onder T, Agarwal S, Manos PD, Datta S, Lander ES, Schlaeger TM, Daley GQ, Rinn JL.
Nat Genet 2010
Dynamic instability of genomic methylation patterns in pluripotent stem cells
Ooi SK, Wolf D, Hartung O, Agarwal S, Daley GQ, Goff SP, Bestor TH.
Epigenetics Chromatin 2010
Reprogramming of T cells from human peripheral blood
Loh YH, Hartung O, Li H, Guo C, Sahalie JM, Manos PD, Urbach A, Heffner GC, Grskovic M, Vigneault F, Lensch MW, Park IH, Agarwal S, Church GM, Collins JJ, Irion S, Daley GQ.
Cell Stem Cell 2010
AID for reprogramming
Agarwal S, Daley GQ.
Cell Res 2010
Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ.
Nature 2010
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations
Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming MD, Bottomley SS, Neufeld EJ. Pediatr Blood Cancer 2010
Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1
Tahiliani M, Koh KP, Shen Y, Pastor WA, Bandukwala H, Brudno Y, Agarwal S, Iyer LM, Liu DR, Aravind L, Rao A.
Science 2009
Generation of induced pluripotent stem cells from human blood
Loh YH, Agarwal S, Park IH, Urbach A, Huo H, Heffner GC, Kim K, Miller JD, Ng K, Daley GQ.
Blood 2009
Current prospects for the generation of patient-specific pluripotent cells from adult tissues
Agarwal S, Lensch MW, Daley GQ.
Regen Med 2007
Cardiac troponin increases among runners in the Boston Marathon
Fortescue EB, Shin AY, Greenes DS, Mannix RC, Agarwal S, Feldman BJ, Shah MI, Rifai N, Landzberg MJ, Newburger JW, Almond CS.
Ann Emerg Med 2007
Deletion of a conserved Il4 silencer impairs T helper type 1-mediated immunity
Ansel KM, Greenwald RJ, Agarwal S, Bassing CH, Monticelli S, Interlandi J, Djuretic IM, Lee DU, Sharpe AH, Alt FW, Rao A.
Nat Immunol 2004
TID1, a mammalian homologue of the drosophila tumor suppressor lethal(2) tumorous imaginal discs, regulates activation-induced cell death in Th2 cells
Syken J, Macian F, Agarwal S, Rao A, Münger K.
Oncogene 2003
A 3' enhancer in the IL-4 gene regulates cytokine production by Th2 cells and mast cells
Solymar DC, Agarwal S, Bassing CH, Alt FW, Rao A.
Immunity 2002
Th2 lineage commitment and efficient IL-4 production involves extended demethylation of the IL-4 gene
Lee DU, Agarwal S, Rao A.
Immunity 2002
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