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Josep Oriola Ambrós Professional
Address: Biochemistry and Molecular Genetics Service, Hospital Clinic,
Villarroel 170, 08036 Barcelona, and Genetics Unit, Medical School, Casanova 143, 08036
Barcelona, Spain. E-mail: joriola@clinic.ub.es |
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Academic formation
Biology
Degree. University of Barcelona. 1982
PhD. University of Barcelona. 2002.
International Research Articles
Gázquez C, Oriola J, de
Mateo S, Vidal-Taboada JM, Ballescà JL, Oliva R. A Common Protamine 1 Promoter Polymorphism
(-190 C to A) Correlates with Abnormal Sperm Morphology and Increased Protamine
P1/P2 Ratio in Infertile Patients. J Androl. 2008 Apr 3; [Epub ahead of print]
PMID: 18390561
Baumgartner
BG, Orpinell M, Duran J, Ribas V, Burghardt HE, Bach D, Villar AV, Paz JC,
González M, Camps M, Oriola J, Rivera F, Palacín M, Zorzano A. Identification
of a novel modulator of thyroid hormone receptor-mediated action. PLoS ONE. 2007 Nov 21;2(11):e1183. PMID: 18030323
Oliva R, Martínez-Heredia
J, de Mateo S, Gázquez C, Oriola J, Estanyol JM, Guimerà M, Balasch J, Ballescà
JL. Proteomics of human
spermatozoa, protamine content and assisted reproduction outcome. Soc Reprod
Fertil Suppl. 2007;65:527-30. Review.
PMID: 17644990
García-Segarra G,
Espinosa G, Tassies D, Oriola J, Aibar J, Bové A, Castro P, Reverter JC,
Nicolás JM. Increased
mortality in septic shock with the 4G/4G genotype of plasminogen activator
inhibitor 1 in patients of white descent. Intensive Care Med. 2007
Aug;33(8):1354-62. Epub 2007 May 31. PMID: 17541549
Recasens M,
Oriola J, Fernández-Real JM, Roig J, Rodríguez-Hermosa JI, Font JA, Galofre P,
López-Bermejo A, Ricart W. Asymptomatic bilateral adrenal pheochromocytoma in a
patient with a germline V804M mutation in the RET proto-oncogene. Clin Endocrinol
(Oxf). 2007 Jul;67(1):29-33. Epub 2007 Apr 27. PMID: 17466010
Aguilera E,
Casamitjana R, Ercilla G, Oriola J, Nicoletti F, Gomis R, Conget I. Clinical
characteristics, beta-cell function, HLA class II and mutations in MODY genes
in non-paediatric subjects with Type 1 diabetes without pancreatic
autoantibodies. Diabet Med. 2005 Feb;22(2):137-43. PMID: 15660729
Aguilera E,
Casamitjana R, Ercilla G, Oriola J, Gomis R, Conget I. Adult-onset atypical
(type 1) diabetes: additional insights and differences with type 1A diabetes in
a European Mediterranean population. Diabetes Care. 2004 May;27(5):1108-14.
PMID: 15111529
Mengual L,
Oriola J, Ascaso C, Ballescà JL, Oliva R. An increased CAG repeat length in the
androgen receptor gene in azoospermic ICSI candidates. J Androl. 2003 Mar-Apr;24(2):279-84. PMID:
12634316
Bach D, Pich S, Soriano
FX, Vega N, Baumgartner B, Oriola J, Daugaard JR, Lloberas J, Camps M, Zierath
JR, Rabasa-Lhoret R, Wallberg-Henriksson H, Laville M, Palacín M, Vidal H,
Rivera F, Brand M, Zorzano A. Mitofusin-2 determines mitochondrial network
architecture and mitochondrial metabolism. A novel regulatory mechanism altered in
obesity. J Biol Chem. 2003 May 9;278(19):17190-7. Epub 2003 Feb 21. PMID:
12598526
Fernández-Solà
J, Nicolás JM, Oriola J, Sacanella E, Estruch R, Rubin E, Urbano-Márquez A.
Angiotensin-converting enzyme gene polymorphism is associated with
vulnerability to alcoholic cardiomyopathy. Ann Intern Med. 2002 Sep 3;137(5
Part 1):321-6. Summary for patients in: Ann Intern Med. 2002 Sep 3;137(5 Part
1):I44.
PMID:
12204015
Poch E,
Giner V, González-Núñez D, Coll E, Oriola J, de la Sierra A. Association of the
G protein beta3 subunit T allele with insulin resistance in essential
hypertension.
Clin Exp
Hypertens. 2002 Jul;24(5):345-53. PMID: 12109775
Lecube A,
Hernandez C, Oriola J, Galard R, Gémar E, Mesa J, Simó R. V804M RET mutation
and familial medullary thyroid carcinoma: report of a large family with
expression of the disease only in the homozygous gene carriers. Surgery. 2002
May;131(5):509-14. PMID: 12019403
Oriola J,
Halperin I, Rivera-Fillat F, Donis-Keller H. The finding of a somaticdeletion
in RET exon 15 clarified the sporadic nature of amedullary thyroid carcinoma
suspected to be familial. J Endocrinol Invest. 2002 Jan;25(1):25-31. PMID:
11883863
Kasprzak L,
Nolet S, Gaboury L, Pavia C, Villabona C, Rivera-Fillat F, Oriola J, Foulkes
WD. Familial medullary thyroid carcinoma and prominent corneal nerves
associated with the germline V804M and V778I mutations on the same allele of
RET.
J Med
Genet. 2001 Nov;38(11):784-7. No abstract available. PMID: 11732489
Oriola J,
Halperin I, Mallofré C, Muntané J, Angel M, Rivera-Fillat F. Screening of
selected genomic areas potentially involved in thyroid neoplasms. Eur J Cancer.
2001 Dec;37(18):2470-4. PMID: 11720845
Parés A,
Guañabens N, Alvarez L, De Osaba MJ, Oriola J, Pons F, Caballería L, Monegal A,
Salvador G, Jo J, Peris P, Rivera F, Ballesta AM, Rodés J. Collagen type
Ialpha1 and vitamin D receptor gene polymorphisms and bone mass in primary
biliary cirrhosis. Hepatology. 2001
Mar;33(3):554-60. PMID: 11230734
Peris P, Alvarez L,
Oriola J, Guañabens N, Monegal A, de Osaba MJ, Jo J, Pons F, Ballesta AM,
Muñoz-Gómez J. Collagen type Ialpha1 gene polymorphism in idiopathic
osteoporosis in men. Rheumatology
(Oxford). 2000 Nov;39(11):1222-5. PMID: 11085801
Fernández-Real
JM, Vendrell J, Ricart W, Broch M, Gutiérrez C, Casamitjana R, Oriola J,
Richart C. Polymorphism of the tumor necrosis factor-alpha receptor 2 gene is
associated with obesity, leptin levels, and insulin resistance in young
subjects and diet-treated type 2 diabetic patients. Diabetes Care. 2000
Jun;23(6):831-7. PMID: 10841005
Gomez-Angelats
E, de la Sierra A, Enjuto M, Sierra C, Oriola J, Francino A, Paré JC, Poch E,
Coca A. Lack of association between ACE gene polymorphism and left ventricular
hypertrophy in essential hypertension. J Hum Hypertens. 2000 Jan;14(1):47-9.
PMID: 10673731
Giner V,
Poch E, Bragulat E, Oriola J, González D, Coca A, De La Sierra A.
Renin-angiotensin system genetic polymorphisms and salt sensitivity in
essential hypertension.
Hypertension.
2000 Jan;35(1 Pt 2):512-7. PMID: 10642351
Torregrosa
JV, Poch E, Oriola J, Campistol JM, Cofan F, Iñigo P, Oppenheimer F. Postrenal
transplant erythrocytosis and insertion/deletion polymorphism of the
angiotensin converting enzyme gene. Transplant Proc. 1999 Sep;31(6):2319-20. No
abstract available. PMID: 10500597
LinksAlvarez L, Oriola J,
Jo J, Ferró T, Pons F, Peris P, Guañabens N, Durán M, Monegal A, Martínez de
Osaba MJ, Rivera-Fillat F, Ballesta AM. Collagen type I alpha1 gene Sp1 polymorphism in
premenopausal women with primary osteoporosis: improved detection of Sp1
binding site polymorphism in the collagen type 1 gene.
Clin Chem.
1999 Jun;45(6 Pt 1):904-6. No abstract available. PMID: 10352003
Viaplana R, Poch E, Lario S, Oriola J,
González D, Botey A, Rivera F. SacI identifies a biallelic polymorphism in the
coding sequence of the gamma subunit of the epithelial sodium channel (ENaC): a
candidate gene for hypertension. Clin Genet. 1998 Jul;54(1):104-5. No abstract
available. PMID: 9727752
Oriola J,
Páramo C, Halperin I, García-Mayor RV, Rivera-Fillat F. Novel point mutation in
exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
Am J Med Genet. 1998 Jul 7;78(3):271-3. PMID: 9677065
Fernández-Llama
P, Poch E, Oriola J, Botey A, Rivera F, Revert L. Angiotensinogen gene M235T
and T174M polymorphisms in essential hypertension: relation with target organ
damage. Am J Hypertens. 1998 Apr;11(4 Pt 1):439-44. PMID: 9607382
Fernández-Llama
P, Poch E, Oriola J, Botey A, Coll E, Darnell A, Rivera F, Revert L.
Angiotensin converting enzyme gene I/D polymorphism in essential hypertension
and nephroangiosclerosis. Kidney Int. 1998 Jun;53(6):1743-7. PMID: 9607207
Oriola J,
Pavia C. Unsuspected mutation in a family with congenital adrenal hyperplasia.
Am J Med Genet. 1997 Aug 8;71(2):249-50. No abstract available. PMID: 9217236
Oriola J,
Titos E, Leivas A, Navarro MA, Rivera-Fillat F. Short report on DNA markers at
candidate loci. Two new polymorphisms in the BRCA 1 gene. Clin Genet. 1997
May;51(5):361-2. No abstract available. PMID: 9212189
Oriola J,
Plensa I, Machuca I, Pavía C, Rivera-Fillat F. Rapid screening method for detecting
mutations in the 21-hydroxylase gene. Clin Chem. 1997 Apr;43(4):557-61.
PMID:
9105254
Lario S,
Calls J, Cases A, Oriola J, Torras A, Rivera F. MspI identifies a biallelic
polymorphism in the promoter region of the alpha 2A-adrenergic receptor gene.
Clin Genet.
1997 Feb;51(2):129-30. No abstract available.
PMID: 9112004
Hernández
G, Simó R, Oriola J, Mesa J. False-positive results of basal and
pentagastrin-stimulated calcitonin in non-gene carriers of multiple endocrine
neoplasia type 2A.
Thyroid.
1997 Feb;7(1):51-4. PMID: 9086571
Bono M,
Cases A, Oriola J, Calls J, Torras A, Rivera F. Polymorphisms of the human
alpha 2A-adrenergic receptor gene in a Catalan population: description of a new
polymorphism in the promoter region. Gene Geogr. 1996 Aug;10(2):151-9. PMID:
9049625
Oriola J,
Hernandez C, Simo R, Barcelo A, Casamitjana R, Vilardell E, Rivera-Fillat F.
Genetic analysis of seven Mediterranean families with multiple endocrine
neoplasia type 2A. Clin Endocrinol (Oxf). 1996 Feb;44(2):207-12. PMID: 8849576
Leivas A,
Jiménez W, Lamas S, Bosch-Marcé M, Oriola J, Clària J, Arroyo V, Rivera F,
Rodés J. Endothelin 1 does not play a major role in the homeostasis of arterial
pressure in cirrhotic rats with ascites. Gastroenterology. 1995 Jun;108(6):1842-8.
PMID: 7768391
Oriola J,
Casamitjana R, Nogués N, Pagés R, Romero M, Rivera-Fillat F. RsaI polymorphism
of the human growth hormone gene (GH1). Nucleic Acids Res. 1991 Dec
25;19(24):6983. No abstract available. PMID: 1684861
Binimelis
J, Codina M, Oriola J, Amill B, Perez A, de Leiva A. Activated T-lymphocytes in
newly diagnosed type I diabetic patients: relationship to residual beta cell
function. J Autoimmun. 1990 Oct;3(5):579-85. PMID: 2147547
Tortosa F,
Puig-Domingo M, Peinado MA, Oriola J, Webb SM, de Leiva A. Enhanced circadian
rhythm of melatonin in anorexia nervosa.Acta Endocrinol (Copenh). 1989 May;120(5):574-8. PMID: 2728803
Gastó
C, Vallejo J, Martínez de Osaba MJ, Oriola J, Rivera F. [3H-serotonin fixation
by human platelets: application to depression] Ann Med Psychol (Paris). 1988
Jan-Feb;146(1-2):89-91. French. No abstract available. PMID: 3415140