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Patricia L.M. Dahia, Assistant
Professor; M.D., Ph.D.
Telephone: (210) 567-4866 E-mail: dahia@uthscsa.edu The laboratory's main focus is
the utilization of genomics-based approaches to study the signaling interaction
between metabolic defects and cancer. For these studies, we take advantage
of a natural disease model, the inactivating mutations of
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Toledo
RA, Lourenzo DM Jr, Liberman B, Cunha-Neto MB, Cavalcanti MG, Moyses CB,
Toledo SP, Dahia PL.
Germline mutation in the aryl hydrocarbon receptor interacting protein
gene in familial somatotropinoma.
J Clin Endocrinol Metab. 2007 May;92(5):1934-7. Epub 2007 Mar
6.
PMID: 17341560
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.
Phase I/II study of imatinib mesylate for recurrent malignant gliomas:
North American Brain Tumor Consortium Study 99-08.
Clin Cancer Res. 2006 Aug 15;12(16):4899-907.
PMID: 16914578
Dahia
PL; Familial Pheochromocytoma Consortium.
Transcription association of VHL and SDH mutations link hypoxia and
oxidoreductase signals in pheochromocytomas.
Ann N Y Acad Sci. 2006 Aug;1073:208-20. Review.
PMID: 17102089
Jech
M, Alvarado-Cabrero I, Albores-Saavedra J, Dahia PL, Tischler AS.
Genetic analysis of high altitude paragangliomas.
Endocr Pathol. 2006 Summer;17(2):201-2. Review. No abstract
available.
PMID: 17159253
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.
Clinical presentation and penetrance of pheochromocytoma/paraganglioma
syndromes.
J Clin Endocrinol Metab. 2006 Mar;91(3):827-36. Epub 2005 Nov
29.
PMID: 16317055
Dahia
PL.
Evolving concepts in pheochromocytoma and paraganglioma.
Curr Opin Oncol. 2006 Jan;18(1):1-8. Review.
PMID: 16357557
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.
Novel pheochromocytoma susceptibility loci identified by integrative
genomics.
Cancer Res. 2005 Nov 1;65(21):9651-8.
PMID: 16266984
Arum
SM, Dahia PL, Schneider K, Braverman LE.
A RET mutation with decreased penetrance in the family of a patient
with a "sporadic" pheochromocytoma.
Endocrine. 2005 Nov;28(2):193-8.
PMID: 16388093
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, Nose V, Li C,
Stiles CD.
A HIF1alpha regulatory loop links hypoxia and mitochondrial signals
in pheochromocytomas.
PLoS Genet. 2005 Jul;1(1):72-80. Epub 2005 Jul 25.
PMID: 16103922
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.
Malignant pheochromocytoma: current status and initiatives for future
progress.
Endocr Relat Cancer. 2004 Sep;11(3):423-36. Review.
PMID: 15369446
Astuti
D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye
ES, Eng C, Maher ER.
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility
to familial pheochromocytoma and to familial paraganglioma.
Am J Hum Genet. 2001 Jul;69(1):49-54. Epub 2001 Jun 12. Erratum
in: Am J Hum Genet 2002 Feb;70(2):565.
PMID: 11404820
Aguiar
RC, Cox G, Pomeroy SL, Dahia PL.
Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma
syndrome (PGL1), in pheochromocytomas.
J Clin Endocrinol Metab. 2001 Jun;86(6):2890-4.
PMID: 11397905
Gimm
O, Chi H, Dahia PL, Perren A, Hinze R, Komminoth P, Dralle H, Reynolds
PR, Eng C.
Somatic mutation and germline variants of MINPP1, a phosphatase gene
located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.
J Clin Endocrinol Metab. 2001 Apr;86(4):1801-5.
PMID: 11297621
Dahia
PL, Eng C.
Hereditary endocrine neoplasias: fundamental insights and the practice
of clinical cancer genetics.
Front Horm Res. 2001;28:8-19. Review. No abstract available.
PMID: 11443854
Aguiar
RC, Dahia PL.
Identification and characterization of disease-related genes: focus
on endocrine neoplasias.
Front Horm Res. 2001;28:20-49. Review. No abstract available.
PMID: 11443852
Dahia
PL, Eng C.
Genetic disorders of endocrine neoplasia. Introduction..
Front Horm Res. 2001;28:1-7. No abstract available.
PMID: 11443848
Dahia
PL.
PTEN, a unique tumor suppressor gene.
Endocr Relat Cancer. 2000 Jun;7(2):115-29. Review.
PMID: 10903528
Yeh
JJ, Lunetta KL, van Orsouw NJ, Moore FD Jr, Mutter GL, Vijg J, Dahia PL,
Eng C.
Somatic mitochondrial DNA (mtDNA) mutations in papillary thyroid carcinomas
and differential mtDNA sequence variants in cases with thyroid tumours.
Oncogene. 2000 Apr 13;19(16):2060-6.
PMID: 10803467
Weng
LP, Smith WM, Dahia PL, Ziebold U, Gil E, Lees JA, Eng C.
PTEN suppresses breast cancer cell growth by phosphatase activity-dependent
G1 arrest followed by cell death.
Cancer Res. 1999 Nov 15;59(22):5808-14.
PMID: 10582703
Perren
A, Weng LP, Boag AH, Ziebold U, Thakore K, Dahia PL, Komminoth P, Lees
JA, Mulligan LM, Mutter GL, Eng C.
Immunohistochemical evidence of loss of PTEN expression in primary
ductal adenocarcinomas of the breast.
Am J Pathol. 1999 Oct;155(4):1253-60.
PMID: 10514407
Duerr
EM, Gimm O, Neuberg DS, Kum JB, Clifford SC, Toledo SP, Maher ER, Dahia
PL, Eng C.
Differences in allelic distribution of two polymorphisms in the VHL-associated
gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations.
J Clin Endocrinol Metab. 1999 Sep;84(9):3207-11.
PMID: 10487688
Jacobs
RA, Schaad NC, Vanecek J, Leaver S, Aubry JM, Korf HW, Dahia PL, Chew SL,
Grossman AB.
Pineal nitric oxide synthase, but not heme oxygenase, mRNA is suppressed
by continuous exposure to light.
Brain Res Mol Brain Res. 1999 Jul 5;70(2):264-72.
PMID: 10407174
Gimm
O, Gossling A, Marsh DJ, Dahia PL, Mulligan LM, von Deimling A, Eng C.
Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor
for the GDNF/RET complex, in human brain tumours.
Br J Cancer. 1999 May;80(3-4):383-6.
PMID: 10408842
Dahia
PL, Grossman AB.
The molecular pathogenesis of corticotroph tumors.
Endocr Rev. 1999 Apr;20(2):136-55. Review. No abstract available.
PMID: 10204115
Gimm
O, Neuberg DS, Marsh DJ, Dahia PL, Hoang-Vu C, Raue F, Hinze R, Dralle
H, Eng C.
Over-representation of a germline RET sequence variant in patients
with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation.
Oncogene. 1999 Feb 11;18(6):1369-73.
PMID: 10022819
Dahia
PL, Aguiar RC, Alberta J, Kum JB, Caron S, Sill H, Marsh DJ, Ritz J, Freedman
A, Stiles C, Eng C.
PTEN is inversely correlated with the cell survival factor Akt/PKB
and is inactivated via multiple mechanismsin haematological malignancies.
Hum Mol Genet. 1999 Feb;8(2):185-93.
PMID: 9931326
Marsh
DJ, Dahia PL, Caron S, Kum JB, Frayling IM, Tomlinson IP, Hughes KS, Eeles
RA, Hodgson SV, Murday VA, Houlston R, Eng C.
Germline PTEN mutations in Cowden syndrome-like families.
J Med Genet. 1998 Nov;35(11):881-5.
PMID: 9832031
Korbonits
M, Jacobs RA, Aylwin SJ, Burrin JM, Dahia PL, Monson JP, Honegger J, Fahlbush
R, Trainer PJ, Chew SL, Besser GM, Grossman AB.
Expression of the growth hormone secretagogue receptor in pituitary
adenomas and other neuroendocrine tumors.
J Clin Endocrinol Metab. 1998 Oct;83(10):3624-30.
PMID: 9768675
Dahia
PL, FitzGerald MG, Zhang X, Marsh DJ, Zheng Z, Pietsch T, von Deimling
A, Haluska FG, Haber DA, Eng C.
A highly conserved processed PTEN pseudogene is located on chromosome
band 9p21.
Oncogene. 1998 May 7;16(18):2403-6.
PMID: 9620558
Kostoglou-Athanassiou
I, Jacobs RA, Satta MA, Dahia PL, Costa A, Navarra P, Chew SL, Forsling
ML, Grossman AB.
Acute and subacute effects of endotoxin on hypothalamic gaseous neuromodulators.
Ann N Y Acad Sci. 1998 May 1;840:249-61.
PMID: 9629253
Marsh
DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron
S, Duboue B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau
A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP,
Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al.
Mutation spectrum and genotype-phenotype analyses in Cowden disease
and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN
mutation.
Hum Mol Genet. 1998 Mar;7(3):507-15.
PMID: 9467011
Dahia
PL, Aguiar RC, Honegger J, Fahlbush R, Jordan S, Lowe DG, Lu X, Clayton
RN, Besser GM, Grossman AB.
Mutation and expression analysis of the p27/kip1 gene in corticotrophin-secreting
tumours.
Oncogene. 1998 Jan 8;16(1):69-76.
PMID: 9467944
Marsh
DJ, Dahia PL, Coulon V, Zheng Z, Dorion-Bonnet F, Call KM, Little R, Lin
AY, Eeles RA, Goldstein AM, Hodgson SV, Richardson AL, Robinson BG, Weber
HC, Longy M, Eng C.
Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden
disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome
and germline PTEN mutation.
Genes Chromosomes Cancer. 1998 Jan;21(1):61-9.
PMID: 9443042
Marsh
DJ, Roth S, Lunetta KL, Hemminki A, Dahia PL, Sistonen P, Zheng Z, Caron
S, van Orsouw NJ, Bodmer WF, Cottrell SE, Dunlop MG, Eccles D, Hodgson
SV, Jarvinen H, Kellokumpu I, Markie D, Neale K, Phillips R, Rozen P, Syngal
S, Vijg J, Tomlinson IP, Aaltonen LA, Eng C.
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile
polyposis syndrome.
Cancer Res. 1997 Nov 15;57(22):5017-21.
PMID: 9371495
Dahia
PL, Marsh DJ, Zheng Z, Zedenius J, Komminoth P, Frisk T, Wallin G, Parsons
R, Longy M, Larsson C, Eng C.
Somatic deletions and mutations in the Cowden disease gene, PTEN, in
sporadic thyroid tumors.
Cancer Res. 1997 Nov 1;57(21):4710-3.
PMID: 9354427
Arlt
W, Dahia PL, Callies F, Nordmeyer JP, Allolio B, Grossman AB, Reincke M.
Ectopic ACTH production by a bronchial carcinoid tumour responsive
to desmopressin in vivo and in vitro.
Clin Endocrinol (Oxf). 1997 Nov;47(5):623-7.
PMID: 9425403
Gimm
O, Marsh DJ, Andrew SD, Frilling A, Dahia PL, Mulligan LM, Zajac JD, Robinson
BG, Eng C.
Germline dinucleotide mutation in codon 883 of the RET proto-oncogene
in multiple endocrine neoplasia type 2B without codon 918 mutation.
J Clin Endocrinol Metab. 1997 Nov;82(11):3902-4.
PMID: 9360560
Jacobs
RA, Satta MA, Dahia PL, Chew SL, Grossman AB.
Induction of nitric oxide synthase and interleukin-1beta, but not heme
oxygenase, messenger RNA in rat brain following peripheral administration
of endotoxin.
Brain Res Mol Brain Res. 1997 Oct 3;49(1-2):238-46.
PMID: 9387883
Marsh
DJ, Dahia PL, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C.
Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
Nat Genet. 1997 Aug;16(4):333-4. No abstract available.
PMID: 9241266
Liaw
D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC,
Peacocke M, Eng C, Parsons R.
Germline mutations of the PTEN gene in Cowden disease, an inherited
breast and thyroid cancer syndrome.
Nat Genet. 1997 May;16(1):64-7.
PMID: 9140396
Dahia
PL, Honegger J, Reincke M, Jacobs RA, Mirtella A, Fahlbusch R, Besser GM,
Chew SL, Grossman AB.
Expression of glucocorticoid receptor gene isoforms in corticotropin-secreting
tumors.
J Clin Endocrinol Metab. 1997 Apr;82(4):1088-93.
PMID: 9100578
Dahia
PL, Toledo SP, Mulligan LM, Maher ER, Grossman AB, Eng C.
Mutation analysis of glial cell line-derived neurotrophic factor (GDNF),
a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas.
Cancer Res. 1997 Jan 15;57(2):310-3.
PMID: 9000574
Toledo
SP, Brunner HG, Kraaij R, Post M, Dahia PL, Hayashida CY, Kremer H Themmen
AP.
An inactivating mutation of the luteinizing hormone receptor causes
amenorrhea in a 46,XX female.
J Clin Endocrinol Metab. 1996 Nov;81(11):3850-4.
PMID: 8923827
Aguiar
RC, Dahia PL, Sill H, Toledo SP, Goldman JM, Cross NC.
Deletion analysis of the p16 tumour suppressor gene in phaeochromocytomas.
Clin Endocrinol (Oxf). 1996 Jul;45(1):93-6.
PMID: 8796144
Dahia
PL, Ahmed-Shuaib A, Jacobs RA, Chew SL, Honegger J, Fahlbusch R, Besser
GM, Grossman AB.
Vasopressin receptor expression and mutation analysis in corticotropin-secreting
tumors.
J Clin Endocrinol Metab. 1996 May;81(5):1768-71.
PMID: 8626831
Eng
C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, Chew SL, Dahia
PL, O'Riordan JL, Toledo SP, et al.
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease
tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
J Med Genet. 1995 Dec;32(12):934-7.
PMID: 8825918
Dahia
PL, Aguiar RC, Tsanaclis AM, Bendit I, Bydlowski SP, Abelin NM, Toledo
SP.
Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.
Br J Cancer. 1995 Nov;72(5):1211-3.
PMID: 7577469
Aguiar
RC, Dahia PL, Bendit I, Beitler B, Dorlhiac P, Bydlowski S, Chamone D.
Further evidence for the lack of correlation between the breakpoint
site within M-BCR and CML prognosis and for the occasional involvement
of p53 in transformation.
Cancer Genet Cytogenet. 1995 Oct 15;84(2):105-12.
PMID: 8536222
Dahia
PL, Hayashida CY, Strunz C, Abelin N, Toledo SP.
Low cord blood levels of catecholamine from a newborn of a pheochromocytoma
patient.
Eur J Endocrinol. 1994 Mar;130(3):217-9.
PMID: 8156092