Search Results - "Larriba, S"

Altered gene expression signature of early stages of the germ line supports the pre‐meiotic origin of human spermatogenic failure by Bonache, S., Algaba, F., Franco, E., Bassas, L., Larriba, S.

“…Summary The molecular basis of spermatogenic failure (SpF) is still largely unknown. Accumulating evidence suggests that a series of specific events such as…”
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N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel by Gené, G.G, Llobet, A, Larriba, S, de Semir, D, Martínez, I, Escalada, A, Solsona, C, Casals, T, Aran, J.M

“…Over 1,500 cystic fibrosis transmembrane conductance regulator (CFTR) gene sequence variations have been identified in patients with cystic fibrosis (CF) and…”
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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 by Zielenski, Julian, Bal, Jerzy, Cutting, Garry R, Macek, Milan, Palacio, Ana, Ferec, Claude, Larriba, Sara, Marshall, Bruce C, Krebsova, Alice, Markiewicz, Danuta, Casals, Teresa, Claustres, Mirreille, Durie, Peter, Tsui, Lap-Chee, Corey, Mary, Langfelder-Schwind, Elinor, Rozmahel, Richard, DeCelie-Germana, J, Nowakowska, Aleksandra, Mercier, Bernard, Estivill, Xavier, Aznarez, Isabel

“…Cystic fibrosis (CF) is a simple, autosomal recessive disorder caused by mutations in CFTR, encoding the CF transmembrane conductance regulator. The molecular…”
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Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens by LARRIBA, S, BASSAS, L, GIMENEZ, J, RAMOS, M. D, SEGURA, A, NUNES, V, ESTIVILL, X, CASALS, T

“…The involvement of the five thymidine (5T) variant in intron 8 of the cystic fibrosis membrane regulator (CFTR) gene in congenital bilateral absence of the vas…”
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O-136 A comprehensive evaluation of spermatogenesis-related genes identifies novel common and rare risk loci for idiopathic severe spermatogenic failure by Guzmán-Jiménez, A, González-Muñoz, S, Cerván-Martín, M, Higueras-Serrano, I, Garrido, N, Luján, S, Castilla, J A, Seixas, S, Gonçalves, J, Larriba, S, Lopes, A M, Palomino-Morales, R J, Bossini-Catillo, L, Carmona, F D

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P-055 Influence of a dynamic exposome on the genetic component of male infertility by Higueras-Serrano, I, Cerván-Martín, M, González Muñoz, S, Guzmán-Jiménez, A, Castilla, J  A, Garrido, N, Luján, S, Bassas, L, Seixas, S, Gonçalves, J, Lopes, A  M, Larriba, S, Carmona, F  D, Bossini-Castillo, L, Palomino-Morales, R  J

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Adenosine Triphosphate-Binding Cassette Superfamily Transporter Gene Expression in Severe Male Infertility by LARRIBA, Sara, BASSAS, Lluis, EGOZCUE, Susana, GIMENEZ, Javier, RAMOS, Maria D, BRICENO, Oscar, ESTIVILL, Xavier, CASALS, Teresa

“…Cystic fibrosis transmembrane regulator (CFTR), multidrug-resistant (MDR)1, and multidrug resistance-associated (MRP) proteins belong to the ATP-binding…”
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Molecular evaluation of CFTR sequence variants in male infertility of testicular origin by LARRIBA, S., BONACHE, S., SARQUELLA, J., RAMOS, M. D., GIMÉNEZ, J., BASSAS, L., CASALS, T.

“…Summary Although the involvement of the CFTR gene has been well established in congenital agenesia of vas deferens, its role in non‐obstructive (NOb)…”
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P-538 KATNAL1 polymorphisms confer susceptibility to severe phenotypes of male infertility in a large European cohort by GUZMÁN JIMÉNEZ, A, Cerván-Martín, M, Bossini-Castillo, L, Garrido, N, Luján, S, Castilla, J.A, Azoonomic, S.G, Marques, P.I, Carvalho, F, Gonçalves, J, Larriba, S, Lopes, A.M, Palomino-Morales, R.J, Carmona, F.D

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P-536 Common variation in the PIN1 locus increases the genetic risk to suffer from Sertoli Cell Only syndrome by Cerván Martín, M, González-Muñoz, S, Bossini-Castillo, L, Guzmán-Jime'nez, A, Garrido, N, Luján, S, Clavero, A, Azoonomic, S.G, Barros, A, Seixas, S, Gonçalves, J, Larriba, S, Lopes, A.M, Carmona, F.D, Palomino-Morales, R.J

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ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis by Larriba, S, Sumoy, L, Ramos, M D, Giménez, J, Estivill, X, Casals, T, Nunes, V

“…The Na+-dependent amino acid transporter named ATB(0) was previously found to be located in 19q13.3 by fluorescence in situ hybridisation. Genetic…”
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O-118 New insight into the genetic contribution of common variants to the development of extreme phenotypes of unexplained male infertility: a multicenter genome-wide association study by Cerván Martín, M, Tüttelmann, F, Lopes, A M, Bossini-Castillo, L, Garrido, N, Luján, S, Castilla, J A, Azoonomic, S G, Gromoll, J, Seixas, S, Gonçalves, J, Larriba, S, Kliesch, S, Palomino-Morales, R J, Carmona, F D

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Spanish research related to SMRs projects by Queral, C., Redondo-Valero, E., Sanchez-Torrijos, J., Canal, D., Jiménez, G., Larriba, S., Cuervo, D., Cabellos, O., Durán-Vinuesa, L.F., Herranz, L.E., García, M., Martinez-Quiroga, V., Freixa, J., Barrachina, T., Miro, R., Pérez-Rodríguez, E., Dominguez Bautista, M.T., Larrosa, O., Hueso-Ordoñez, C., Gonzalez-Sevillano, I., Ruiz-Martin, J.A.

“…•Spanish companies, universities and research centers are highly involved in several new SMR design projects, both GEN-III and GEN-IV reactors.•The system…”
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P02 - Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with a complete form of globozoospermia by Bossini-Castillo, L., López-Rodrigo, O., Carmona, F.D., Bassas, L., Larriba, S.

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Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with a complete form of globozoospermia by Bossini-Castillo, L., López-Rodrigo, O., Carmona, F.D., Bassas, L., Larriba, S.

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Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis by Masvidal, Laia, Igreja, Susana, Ramos, Maria D, Alvarez, Antoni, de Gracia, Javier, Ramalho, Anabela, Amaral, Margarida D, Larriba, Sara, Casals, Teresa

“…The major purpose of the present study was to quantify correctly spliced CFTR transcripts in human nasal epithelial cells from cystic fibrosis (CF) patients…”
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Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens by Casals, Teresa, Bassas, Lluís, Egozcue, Susanna, Ramos, Maria D., Giménez, Javier, Segura, Ana, Garcia, Ferran, Carrera, Marta, Larriba, Sara, Sarquella, Joaquim, Estivill, Xavier

“…Congenital absence of the vas deferens (CAVD) is a heterogeneous disorder, largely due to mutations in the cystic fibrosis (CFTR) gene. Patients with…”
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Expression fingerprint of total seminal plasma micror.n.a.s as potential non-invasive biomarker test for diagnosis and prognosis of prostate cancer by Larriba, S., Barceló, M., Castells, M., Mercadal, M., López, O., Bassas, L., Vigués, F.

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P07 - Expression fingerprint of total seminal plasma micror.n.a.s as potential non-invasive biomarker test for diagnosis and prognosis of prostate cancer by Larriba, S., Barceló, M., Castells, M., Mercadal, M., López, O., Bassas, L., Vigués, F.

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A comparative study of exosome isolation methods for miRNA profiling in semen by Larriba, S., Mercadal, M., Castells, M., Barceló, M., López, O., Bassas, L., De La Fuente, A., Vigués, F.

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