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Items: 44

1.

Cell of Origin and Genetic Alterations in the Pathogenesis of Multiple Myeloma.

Barwick BG, Gupta VA, Vertino PM, Boise LH.

Front Immunol. 2019 May 21;10:1121. doi: 10.3389/fimmu.2019.01121. eCollection 2019. Review.

2.

Clinical efficacy of daratumumab, pomalidomide, and dexamethasone in patients with relapsed or refractory myeloma: Utility of re-treatment with daratumumab among refractory patients.

Nooka AK, Joseph NS, Kaufman JL, Heffner LT, Gupta VA, Gleason C, Boise LH, Lonial S.

Cancer. 2019 May 15. doi: 10.1002/cncr.32178. [Epub ahead of print]

PMID:
31090928
3.

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis.

Velilla J, Marchetti MM, Toth-Petroczy A, Grosgogeat C, Bennett AH, Carmichael N, Estrella E, Darras BT, Frank NY, Krier J, Gaudet R, Gupta VA.

Neurol Genet. 2019 Mar 7;5(2):e312. doi: 10.1212/NXG.0000000000000312. eCollection 2019 Apr.

4.

Multiple myeloma immunoglobulin lambda translocations portend poor prognosis.

Barwick BG, Neri P, Bahlis NJ, Nooka AK, Dhodapkar MV, Jaye DL, Hofmeister CC, Kaufman JL, Gupta VA, Auclair D, Keats JJ, Lonial S, Vertino PM, Boise LH.

Nat Commun. 2019 Apr 23;10(1):1911. doi: 10.1038/s41467-019-09555-6.

5.

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy.

Jirka C, Pak JH, Grosgogeat CA, Marchetii MM, Gupta VA.

Hum Mol Genet. 2019 Apr 15. pii: ddz078. doi: 10.1093/hmg/ddz078. [Epub ahead of print]

PMID:
30986853
6.

Daratumumab in multiple myeloma.

Nooka AK, Kaufman JL, Hofmeister CC, Joseph NS, Heffner TL, Gupta VA, Sullivan HC, Neish AS, Dhodapkar MV, Lonial S.

Cancer. 2019 Apr 5. doi: 10.1002/cncr.32065. [Epub ahead of print] Review.

PMID:
30951198
7.

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J.

Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30.

PMID:
30701273
8.

Functional profiling of venetoclax sensitivity can predict clinical response in multiple myeloma.

Matulis SM, Gupta VA, Neri P, Bahlis NJ, Maciag P, Leverson JD, Heffner LT Jr, Lonial S, Nooka AK, Kaufman JL, Boise LH.

Leukemia. 2019 May;33(5):1291-1296. doi: 10.1038/s41375-018-0374-8. Epub 2019 Jan 24. No abstract available.

PMID:
30679802
9.

Survival outcomes of patients with primary plasma cell leukemia (pPCL) treated with novel agents.

Mina R, Joseph NS, Kaufman JL, Gupta VA, Heffner LT, Hofmeister CC, Boise LH, Dhodapkar MV, Gleason C, Nooka AK, Lonial S.

Cancer. 2019 Feb 1;125(3):416-423. doi: 10.1002/cncr.31718. Epub 2018 Oct 17.

PMID:
30332496
10.

Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.

Pakula A, Lek A, Widrick J, Mitsuhashi H, Bugda Gwilt KM, Gupta VA, Rahimov F, Criscione J, Zhang Y, Gibbs D, Murphy Q, Manglik A, Mead L, Kunkel L.

Hum Mol Genet. 2019 Jan 15;28(2):320-331. doi: 10.1093/hmg/ddy348.

PMID:
30307508
11.

Identifying Coronary Artery Calcification on Non-gated Computed Tomography Scans.

Gupta VA, Leung SW, Winkler MA, Sorrell VL.

J Vis Exp. 2018 Aug 28;(138). doi: 10.3791/57918.

PMID:
30222151
12.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM).

NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. Review.

13.

An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.

Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM.

PLoS One. 2018 Jun 26;13(6):e0199712. doi: 10.1371/journal.pone.0199712. eCollection 2018.

14.

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.

Bennett AH, O'Donohue MF, Gundry SR, Chan AT, Widrick J, Draper I, Chakraborty A, Zhou Y, Zon LI, Gleizes PE, Beggs AH, Gupta VA.

PLoS Genet. 2018 Mar 8;14(3):e1007226. doi: 10.1371/journal.pgen.1007226. eCollection 2018 Mar.

15.

Coronary artery calcification predicts cardiovascular complications after sepsis.

Gupta VA, Sousa M, Kraitman N, Annabathula R, Vsevolozhskaya O, Leung SW, Sorrell VL.

J Crit Care. 2018 Apr;44:261-266. doi: 10.1016/j.jcrc.2017.11.038. Epub 2017 Dec 2.

PMID:
29220755
16.

Role of Echocardiography in the Diagnostic Assessment and Etiology of Heart Failure in Older Adults: Opacify, Quantify, and Rectify.

Gupta VA, Nanda NC, Sorrell VL.

Heart Fail Clin. 2017 Jul;13(3):445-466. doi: 10.1016/j.hfc.2017.02.003. Review.

PMID:
28602365
17.

Atrioventricular dyssynchrony from empiric device settings is common in cardiac resynchronization therapy and adversely impacts left ventricular morphology and function.

Sinner GJ, Gupta VA, Seratnahaei A, Charnigo RJ, Darrat YH, Elayi SC, Leung SW, Sorrell VL.

Echocardiography. 2017 Apr;34(4):496-503. doi: 10.1111/echo.13486. Epub 2017 Mar 1.

PMID:
28247588
18.

A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy.

Smith SJ, Wang JC, Gupta VA, Dowling JJ.

PLoS One. 2017 Feb 27;12(2):e0172648. doi: 10.1371/journal.pone.0172648. eCollection 2017.

19.

Bone marrow microenvironment-derived signals induce Mcl-1 dependence in multiple myeloma.

Gupta VA, Matulis SM, Conage-Pough JE, Nooka AK, Kaufman JL, Lonial S, Boise LH.

Blood. 2017 Apr 6;129(14):1969-1979. doi: 10.1182/blood-2016-10-745059. Epub 2017 Feb 1.

20.

Altered Sensorium in a Young Male: Marchiafava Bignami Disease Revisited.

Mishra D, Bhate P, Gupta VA, Sankhe S, Karnik ND.

J Assoc Physicians India. 2016 Nov;64(11):86-88.

PMID:
27805345
21.

Extra-Pontine Myelinolysis in a Case of Pan-hypopituitarism Due to Empty Sella Syndrome.

Gupta VA, Karnik N, Itolikar M, Vekariya K.

J Assoc Physicians India. 2015 Oct;63(10):86-7.

PMID:
27608705
22.

Dual inhibition of Mcl-1 by the combination of carfilzomib and TG02 in multiple myeloma.

Ponder KG, Matulis SM, Hitosugi S, Gupta VA, Sharp C, Burrows F, Nooka AK, Kaufman JL, Lonial S, Boise LH.

Cancer Biol Ther. 2016 Jul 2;17(7):769-77. doi: 10.1080/15384047.2016.1192086.

23.

Mutation-specific effects on thin filament length in thin filament myopathy.

Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA.

Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30.

24.

Dexamethasone treatment promotes Bcl-2 dependence in multiple myeloma resulting in sensitivity to venetoclax.

Matulis SM, Gupta VA, Nooka AK, Hollen HV, Kaufman JL, Lonial S, Boise LH.

Leukemia. 2016 May;30(5):1086-93. doi: 10.1038/leu.2015.350. Epub 2015 Dec 28.

25.

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.

Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS.

Hum Genet. 2016 Jan;135(1):21-30. doi: 10.1007/s00439-015-1608-8. Epub 2015 Nov 5.

26.

Guillain Barré Syndrome, Systemic Lupus Erythematosus and Acute Intermittent Porphyria – A Deadly Trio.

Patil AD, Karnik ND, Nadkar MY, Gupta VA, Muralidhara K, Passidhi S.

J Assoc Physicians India. 2015 Nov;63(11):60-3.

PMID:
29900713
27.

Fish gall bladder consumption presenting as acute renal failure.

Gupta A, Karnik ND, Gupta VA, Hase NK.

J Postgrad Med. 2015 Oct-Dec;61(4):264-5. doi: 10.4103/0022-3859.166516.

28.

Allopurinol Induced DRESS Syndrome.

Pawar P, Gupta VA, Karnik ND, Vaidya M, Khopkar U.

J Assoc Physicians India. 2014 Nov;62(11):63-5.

PMID:
26281488
29.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

30.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. Erratum in: J Clin Invest. 2015 Jan;125(1):456-7.

31.

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS.

Hum Mol Genet. 2014 Dec 15;23(24):6584-93. doi: 10.1093/hmg/ddu384. Epub 2014 Jul 23.

32.

Kelch proteins: emerging roles in skeletal muscle development and diseases.

Gupta VA, Beggs AH.

Skelet Muscle. 2014 Jun 1;4:11. doi: 10.1186/2044-5040-4-11. eCollection 2014. Review.

33.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC.

Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11.

34.

Incidence and outcome of ventilator associated pneumonia.

Gupta VA, Karnik N, Bhutada A.

J Assoc Physicians India. 2013 Aug;61(8):554-7.

PMID:
24818339
35.

Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.

Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E.

FASEB J. 2014 Jul;28(7):2955-69. doi: 10.1096/fj.13-246470. Epub 2014 Mar 31.

36.

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.

Smith LL, Gupta VA, Beggs AH.

Hum Mol Genet. 2014 Jul 1;23(13):3566-78. doi: 10.1093/hmg/ddu067. Epub 2014 Feb 18.

37.

Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays.

Smith LL, Beggs AH, Gupta VA.

J Vis Exp. 2013 Dec 13;(82):e50925. doi: 10.3791/50925.

38.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH.

Am J Hum Genet. 2013 Dec 5;93(6):1108-17. doi: 10.1016/j.ajhg.2013.10.020. Epub 2013 Nov 21.

39.

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH.

PLoS Genet. 2013 Jun;9(6):e1003583. doi: 10.1371/journal.pgen.1003583. Epub 2013 Jun 20.

40.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA.

Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009.

41.

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

PLoS One. 2012;7(8):e43794. doi: 10.1371/journal.pone.0043794. Epub 2012 Aug 27.

42.

B cells drive lymphocyte activation and expansion in mice with the CD45 wedge mutation and Fas deficiency.

Gupta VA, Hermiston ML, Cassafer G, Daikh DI, Weiss A.

J Exp Med. 2008 Nov 24;205(12):2755-61. doi: 10.1084/jem.20081204. Epub 2008 Nov 10.

43.

The juxtamembrane wedge negatively regulates CD45 function in B cells.

Hermiston ML, Tan AL, Gupta VA, Majeti R, Weiss A.

Immunity. 2005 Dec;23(6):635-47.

44.

A diacylglycerol-protein kinase C-RasGRP1 pathway directs Ras activation upon antigen receptor stimulation of T cells.

Roose JP, Mollenauer M, Gupta VA, Stone J, Weiss A.

Mol Cell Biol. 2005 Jun;25(11):4426-41.

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