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Items: 1 to 50 of 87

1.

A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated with an SDHC Germline Mutation.

Ong RKS, Flores SK, Reddick RL, Dahia PLM, Shawa H.

J Clin Endocrinol Metab. 2018 Jun 6. doi: 10.1210/jc.2017-01302. [Epub ahead of print]

PMID:
29878124
2.

EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease.

Vaidya A, Flores SK, Cheng ZM, Nicolas M, Deng Y, Opotowsky AR, Lourenço DM Jr, Barletta JA, Rana HQ, Pereira MA, Toledo RA, Dahia PLM.

N Engl J Med. 2018 Mar 29;378(13):1259-1261. doi: 10.1056/NEJMc1716652. No abstract available.

3.

The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.

Deng Y, Qin Y, Srikantan S, Luo A, Cheng ZM, Flores SK, Vogel KS, Wang E, Dahia PLM.

Hum Mol Genet. 2018 May 15;27(10):1794-1808. doi: 10.1093/hmg/ddy095.

PMID:
29547888
4.

Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation.

Deng Y, Flores SK, Cheng Z, Qin Y, Schwartz RC, Malchoff C, Dahia PLM.

Endocr Relat Cancer. 2017 Nov;24(11):L79-L82. doi: 10.1530/ERC-17-0359. Epub 2017 Aug 30. No abstract available.

PMID:
28855235
5.

IDH Mutation, Competitive Inhibition of FTO, and RNA Methylation.

Elkashef SM, Lin AP, Myers J, Sill H, Jiang D, Dahia PLM, Aguiar RCT.

Cancer Cell. 2017 May 8;31(5):619-620. doi: 10.1016/j.ccell.2017.04.001. No abstract available.

6.

Pheochromocytomas and Paragangliomas, Genetically Diverse and Minimalist, All at Once!

Dahia PL.

Cancer Cell. 2017 Feb 13;31(2):159-161. doi: 10.1016/j.ccell.2017.01.009.

7.

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

NGS in PPGL (NGSnPPGL) Study Group, Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, Welander J, Tops CM, Firth H, Dwight T, Ercolino T, Mannelli M, Opocher G, Clifton-Bligh R, Gimm O, Maher ER, Robledo M, Gimenez-Roqueplo AP, Dahia PL.

Nat Rev Endocrinol. 2017 Apr;13(4):233-247. doi: 10.1038/nrendo.2016.185. Epub 2016 Nov 18. Review.

8.

Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas.

Toledo RA, Qin Y, Cheng ZM, Gao Q, Iwata S, Silva GM, Prasad ML, Ocal IT, Rao S, Aronin N, Barontini M, Bruder J, Reddick RL, Chen Y, Aguiar RC, Dahia PL.

Clin Cancer Res. 2016 May 1;22(9):2301-10. doi: 10.1158/1078-0432.CCR-15-1841. Epub 2015 Dec 23.

9.

D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.

Lin AP, Abbas S, Kim SW, Ortega M, Bouamar H, Escobedo Y, Varadarajan P, Qin Y, Sudderth J, Schulz E, Deutsch A, Mohan S, Ulz P, Neumeister P, Rakheja D, Gao X, Hinck A, Weintraub ST, DeBerardinis RJ, Sill H, Dahia PL, Aguiar RC.

Nat Commun. 2015 Jul 16;6:7768. doi: 10.1038/ncomms8768.

10.

Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes.

Toledo RA, Dahia PL.

Curr Opin Endocrinol Diabetes Obes. 2015 Jun;22(3):169-79. doi: 10.1097/MED.0000000000000150. Review.

PMID:
25871962
11.

Integrity of the pheochromocytoma susceptibility TMEM127 gene in patients with pediatric malignancies.

King EE, Qin Y, Toledo RA, Luo A, Ball E, Faucz FR, Janeway KA, Stratakis CA, Tomlinson GE, Dahia PL.

Endocr Relat Cancer. 2015 Jun;22(3):L5-7. doi: 10.1530/ERC-15-0101. Epub 2015 Mar 13. No abstract available.

12.

Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.

Toledo SP, Lourenço DM Jr, Sekiya T, Lucon AM, Baena ME, Castro CC, Bortolotto LA, Zerbini MC, Siqueira SA, Toledo RA, Dahia PL.

J Clin Endocrinol Metab. 2015 Feb;100(2):E308-18. doi: 10.1210/jc.2014-2473. Epub 2014 Nov 12.

PMID:
25389632
13.

Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity.

Dahia PL.

Nat Rev Cancer. 2014 Feb;14(2):108-19. doi: 10.1038/nrc3648. Epub 2014 Jan 20. Review.

PMID:
24442145
14.

The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function.

Qin Y, Deng Y, Ricketts CJ, Srikantan S, Wang E, Maher ER, Dahia PL.

Hum Mol Genet. 2014 May 1;23(9):2428-39. doi: 10.1093/hmg/ddt638. Epub 2013 Dec 13.

15.

Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas.

Kugelberg J, Welander J, Schiavi F, Fassina A, Bäckdahl M, Larsson C, Opocher G, Söderkvist P, Dahia PL, Neumann HP, Gimm O.

World J Surg. 2014 Mar;38(3):724-32. doi: 10.1007/s00268-013-2373-2.

PMID:
24322175
16.

Next-generation sequencing for the genetic screening of phaeochromcytomas and paragangliomas: riding the new wave, but with caution.

Toledo RA, Dahia PL.

Clin Endocrinol (Oxf). 2014 Jan;80(1):23-4. doi: 10.1111/cen.12357. No abstract available.

PMID:
24168015
17.

The genetic landscape of pheochromocytomas and paragangliomas: somatic mutations take center stage.

Dahia PL.

J Clin Endocrinol Metab. 2013 Jul;98(7):2679-81. doi: 10.1210/jc.2013-2191. No abstract available.

PMID:
23837189
18.

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.

Farley MN, Schmidt LS, Mester JL, Pena-Llopis S, Pavia-Jimenez A, Christie A, Vocke CD, Ricketts CJ, Peterson J, Middelton L, Kinch L, Grishin N, Merino MJ, Metwalli AR, Xing C, Xie XJ, Dahia PLM, Eng C, Linehan WM, Brugarolas J.

Mol Cancer Res. 2013 Sep;11(9):1061-1071. doi: 10.1158/1541-7786.MCR-13-0111. Epub 2013 May 24.

19.

Novel hereditary forms of pheochromocytomas and paragangliomas.

Dahia PL.

Front Horm Res. 2013;41:79-91. doi: 10.1159/000345671. Epub 2013 Mar 19. Review.

PMID:
23652672
20.

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.

Toledo RA, Qin Y, Srikantan S, Morales NP, Li Q, Deng Y, Kim SW, Pereira MA, Toledo SP, Su X, Aguiar RC, Dahia PL.

Endocr Relat Cancer. 2013 May 21;20(3):349-59. doi: 10.1530/ERC-13-0101. Print 2013 Jun.

21.

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M.

Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27.

22.

An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.

Gimenez-Roqueplo AP, Dahia PL, Robledo M.

Horm Metab Res. 2012 May;44(5):328-33. doi: 10.1055/s-0031-1301302. Epub 2012 Feb 10. Review.

PMID:
22328163
23.

Minireview: the busy road to pheochromocytomas and paragangliomas has a new member, TMEM127.

Jiang S, Dahia PL.

Endocrinology. 2011 Jun;152(6):2133-40. doi: 10.1210/en.2011-0052. Epub 2011 Mar 29. Review.

PMID:
21447639
24.

MnSOD deficiency results in elevated oxidative stress and decreased mitochondrial function but does not lead to muscle atrophy during aging.

Lustgarten MS, Jang YC, Liu Y, Qi W, Qin Y, Dahia PL, Shi Y, Bhattacharya A, Muller FL, Shimizu T, Shirasawa T, Richardson A, Van Remmen H.

Aging Cell. 2011 Jun;10(3):493-505. doi: 10.1111/j.1474-9726.2011.00695.x. Epub 2011 Apr 5.

25.

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations.

Janeway KA, Kim SY, Lodish M, Nosé V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic, O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA.

Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):314-8. doi: 10.1073/pnas.1009199108. Epub 2010 Dec 20.

26.

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL.

JAMA. 2010 Dec 15;304(23):2611-9. doi: 10.1001/jama.2010.1830.

PMID:
21156949
27.

VHL disease.

Barontini M, Dahia PL.

Best Pract Res Clin Endocrinol Metab. 2010 Jun;24(3):401-13. doi: 10.1016/j.beem.2010.01.002. Review.

PMID:
20833332
28.

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL.

Nat Genet. 2010 Mar;42(3):229-33. doi: 10.1038/ng.533. Epub 2010 Feb 14.

29.

Targeting of SMAD5 links microRNA-155 to the TGF-beta pathway and lymphomagenesis.

Rai D, Kim SW, McKeller MR, Dahia PL, Aguiar RC.

Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3111-6. doi: 10.1073/pnas.0910667107. Epub 2010 Feb 1.

30.

Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas.

Yao L, Barontini M, Niederle B, Jech M, Pfragner R, Dahia PL.

J Clin Endocrinol Metab. 2010 Mar;95(3):1469-72. doi: 10.1210/jc.2009-2245. Epub 2010 Feb 3.

31.

High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.

Toledo RA, Wagner SM, Coutinho FL, Lourenço DM Jr, Azevedo JA, Longuini VC, Reis MT, Siqueira SA, Lucon AM, Tavares MR, Fragoso MC, Pereira AA, Dahia PL, Mulligan LM, Toledo SP.

J Clin Endocrinol Metab. 2010 Mar;95(3):1318-27. doi: 10.1210/jc.2009-1355. Epub 2010 Jan 15.

PMID:
20080836
32.

Integrity of the CBL gene in mature B-cell malignancies.

McKeller MR, Robetorye RS, Dahia PL, Aguiar RC.

Blood. 2009 Nov 5;114(19):4321-2. doi: 10.1182/blood-2009-08-239988. No abstract available.

33.

Pheochromocytomas: from genetic diversity to new paradigms.

Qin Y, Buddavarapu K, Dahia PL.

Horm Metab Res. 2009 Sep;41(9):664-71. doi: 10.1055/s-0029-1215590. Epub 2009 Apr 23. Review.

PMID:
19391076
34.

A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors.

Yeh IT, Lenci RE, Qin Y, Buddavarapu K, Ligon AH, Leteurtre E, Do Cao C, Cardot-Bauters C, Pigny P, Dahia PL.

Hum Genet. 2008 Oct;124(3):279-85. doi: 10.1007/s00439-008-0553-1. Epub 2008 Aug 26.

PMID:
18726616
35.

The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.

Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr.

Genes Dev. 2008 Apr 1;22(7):884-93. doi: 10.1101/gad.1648608. Epub 2008 Mar 11.

36.

Coordinated expression of microRNA-155 and predicted target genes in diffuse large B-cell lymphoma.

Rai D, Karanti S, Jung I, Dahia PL, Aguiar RC.

Cancer Genet Cytogenet. 2008 Feb;181(1):8-15. doi: 10.1016/j.cancergencyto.2007.10.008.

37.

Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma.

Toledo RA, Lourenço DM Jr, Liberman B, Cunha-Neto MB, Cavalcanti MG, Moyses CB, Toledo SP, Dahia PL.

J Clin Endocrinol Metab. 2007 May;92(5):1934-7. Epub 2007 Mar 6.

PMID:
17341560
38.

Genetic analysis of high altitude paragangliomas.

Jech M, Alvarado-Cabrero I, Albores-Saavedra J, Dahia PL, Tischler AS.

Endocr Pathol. 2006 Summer;17(2):201-2. Review. No abstract available.

PMID:
17159253
39.

Transcription association of VHL and SDH mutations link hypoxia and oxidoreductase signals in pheochromocytomas.

Dahia PL; Familial Pheochromocytoma Consortium.

Ann N Y Acad Sci. 2006 Aug;1073:208-20. Review.

PMID:
17102089
40.

Phase I/II study of imatinib mesylate for recurrent malignant gliomas: North American Brain Tumor Consortium Study 99-08.

Wen PY, Yung WK, Lamborn KR, Dahia PL, Wang Y, Peng B, Abrey LE, Raizer J, Cloughesy TF, Fink K, Gilbert M, Chang S, Junck L, Schiff D, Lieberman F, Fine HA, Mehta M, Robins HI, DeAngelis LM, Groves MD, Puduvalli VK, Levin V, Conrad C, Maher EA, Aldape K, Hayes M, Letvak L, Egorin MJ, Capdeville R, Kaplan R, Murgo AJ, Stiles C, Prados MD.

Clin Cancer Res. 2006 Aug 15;12(16):4899-907.

41.

A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma.

Arum SM, Dahia PL, Schneider K, Braverman LE.

Endocrine. 2005 Nov;28(2):193-8.

PMID:
16388093
42.

Evolving concepts in pheochromocytoma and paraganglioma.

Dahia PL.

Curr Opin Oncol. 2006 Jan;18(1):1-8. Review.

PMID:
16357557
43.

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG.

J Clin Endocrinol Metab. 2006 Mar;91(3):827-36. Epub 2005 Nov 29.

PMID:
16317055
44.

Novel pheochromocytoma susceptibility loci identified by integrative genomics.

Dahia PL, Hao K, Rogus J, Colin C, Pujana MA, Ross K, Magoffin D, Aronin N, Cascon A, Hayashida CY, Li C, Toledo SP, Stiles CD; Familial Pheochromocytoma Consortium.

Cancer Res. 2005 Nov 1;65(21):9651-8.

45.

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas.

Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, Korbonits M, Grossman A, Pigny P, Toledo SP, Nosé V, Li C, Stiles CD.

PLoS Genet. 2005 Jul;1(1):72-80. Epub 2005 Jul 25.

46.

Distinct temporal genetic signatures of neurogenic and gliogenic cues in cortical stem cell cultures.

Sauvageot C, Dahia PL, Lipan O, Park JK, Chang MS, Alberta JA, Stiles CD.

J Neurobiol. 2005 Jan;62(1):121-33.

47.

Malignant pheochromocytoma: current status and initiatives for future progress.

Eisenhofer G, Bornstein SR, Brouwers FM, Cheung NK, Dahia PL, de Krijger RR, Giordano TJ, Greene LA, Goldstein DS, Lehnert H, Manger WM, Maris JM, Neumann HP, Pacak K, Shulkin BL, Smith DI, Tischler AS, Young WF Jr.

Endocr Relat Cancer. 2004 Sep;11(3):423-36. Review.

48.

Hereditary endocrine neoplasias: fundamental insights and the practice of clinical cancer genetics.

Dahia PL, Eng C.

Front Horm Res. 2001;28:8-19. Review. No abstract available.

PMID:
11443854
49.

Identification and characterization of disease-related genes: focus on endocrine neoplasias.

Aguiar RC, Dahia PL.

Front Horm Res. 2001;28:20-49. Review. No abstract available.

PMID:
11443852
50.

Genetic disorders of endocrine neoplasia. Introduction..

Dahia PL, Eng C.

Front Horm Res. 2001;28:1-7. No abstract available.

PMID:
11443848

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