Dr. Josep Oriola collaborated in several of our male infertility genetics and proteomics projects and is also a member of our Medical Genetic Studies academic unit.
He is currently Consultor at the Biochemistry and Molecular Genetics Service at the Hospital Clinic from Barcelona. His research is focussed on the genetic aspects of hereditary endocrine disorders (multiple endocrine neoplasia, congenital adrenal hyperplasia and monogenic diabetes). He is a reference professional in our country in the molecular genetic diagnosis of these disorders, which allows to collect rare clinical cases in which the genetic study usually provides novel insights to understand the causes of these endocrine diseases. His interest also contribute to a better understanding of the genotype-phenotype correlations in these syndromes by studying newly discovered genes and genetic variants.
The joint publications derived from our male infertility genetics and proteomics previous projects are listed below:
Publications
5: Oliva R, De Mateo S, Castillo J, Azpiazu R, Oriola J, Ballescà JL.
Methodological advances in sperm proteomics.
Hum Fertil (Camb). 2010 Dec;13(4):263-7
4: Jodar M, Oriola J, Mestre G, Castillo J, Giwercman A, Vidal-Taboada JM, Ballescà JL, Oliva R.
Polymorphisms, haplotypes and mutations in the protamine 1 and 2 genes.
Int J Androl. 2011;34:470-85
3: Gázquez C, Oriola J, de Mateo S, Vidal-Taboada JM, Ballescà JL, Oliva R.
A common protamine 1 promoter polymorphism (-190 C->A) correlates with abnormal sperm morphology and increased protamine P1/P2 ratio in infertile patients.
J Androl. 2008 Sep-Oct;29(5):540-8.
2: 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
1: 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