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A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia.

Tian W., Fu Y., Garcia-Elias A., Fernandez-Fernandez J.M., Vicente R., Kramer P.L., Klein R.F., Hitzemann R., Orwoll E.S., Wilmot B. et al.

Proc. Natl. Acad. Sci. U.S.A. 106:14034-14039(2009) · Mapped (1)

VA opsin-based photoreceptors in the hypothalamus of birds.

Halford S., Pires S.S., Turton M., Zheng L., Gonzalez-Menendez I., Davies W.L., Peirson S.N., Garcia-Fernandez J.M., Hankins M.W., Foster R.G.

Curr. Biol. 19:1396-1402(2009) · UniProtKB (2)

Modulation of titin-based stiffness by disulfide bonding in the cardiac titin N2-B unique sequence.

Grutzner A., Garcia-Manyes S., Kotter S., Badilla C.L., Fernandez J.M., Linke W.A.

Biophys. J. 97:825-834(2009) · Mapped (13)

Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population.

Corominas R., Ribases M., Cuenca-Leon E., Narberhaus B., Serra S.A., del Toro M., Roig M., Fernandez-Fernandez J.M., Macaya A., Cormand B.

Neurosci. Lett. 455:105-109(2009) · Mapped (4)

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

Teijeira S., San Millan B., Fernandez J.M., Rivas E., Vieitez I., Miranda S., Gonzalez F., Navarro C.

Clin. Neuropathol. 28:136-142(2009) · Mapped (14)

Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.

Pardal-Fernandez J.M., Carrascosa-Romero M.C., de Cabo-de la Vega C., Iniesta-Lopez I., Gil-Pons E., Martinez-Gutierrez A.

Epileptic Disord 11:48-53(2009) · Mapped (4)

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition.

Serra S.A., Fernandez-Castillo N., Macaya A., Cormand B., Valverde M.A., Fernandez-Fernandez J.M.

Pflugers Arch. 458:489-502(2009) · Mapped (7)

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

Hackman P., Marchand S., Sarparanta J., Vihola A., Penisson-Besnier I., Eymard B., Pardal-Fernandez J.M., Hammouda e.l.-H., Richard I., Illa I. et al.

Neuromuscul. Disord. 18:922-928(2008) · Mapped (13)

Genetic variation in the KCNMA1 potassium channel alpha subunit as risk factor for severe essential hypertension and myocardial infarction.

Tomas M., Vazquez E., Fernandez-Fernandez J.M., Subirana I., Plata C., Heras M., Vila J., Marrugat J., Valverde M.A., Senti M.

J. Hypertens. 26:2147-2153(2008) · Mapped (15)

MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors.

Grau E., Oltra S., Martinez F., Orellana C., Canete A., Fernandez J.M., Hernandez-Marti M., Castel V.

J. Cancer Res. Clin. Oncol. 135:523-531(2009) · Mapped (3)

Adiponectin gene variants are associated with insulin sensitivity in response to dietary fat consumption in Caucasian men.

Perez-Martinez P., Lopez-Miranda J., Cruz-Teno C., Delgado-Lista J., Jimenez-Gomez Y., Fernandez J.M., Gomez M.J., Marin C., Perez-Jimenez F., Ordovas J.M.

J. Nutr. 138:1609-1614(2008) · Mapped (3)

IP3 sensitizes TRPV4 channel to the mechano- and osmotransducing messenger 5'-6'-epoxyeicosatrienoic acid.

Fernandes J., Lorenzo I.M., Andrade Y.N., Garcia-Elias A., Serra S.A., Fernandez-Fernandez J.M., Valverde M.A.

J. Cell Biol. 181:143-155(2008) · Mapped (1)

Association study between obsessive-compulsive disorder and serotonergic candidate genes.

Saiz P.A., Garcia-Portilla M.P., Arango C., Morales B., Bascaran M.T., Martinez-Barrondo S., Florez G., Sotomayor E., Paredes B., Alvarez C. et al.

Prog. Neuropsychopharmacol. Biol. Psychiatry 32:765-770(2008) · Mapped (7)

Probing the chemistry of thioredoxin catalysis with force.

Wiita A.P., Perez-Jimenez R., Walther K.A., Grater F., Berne B.J., Holmgren A., Sanchez-Ruiz J.M., Fernandez J.M.

Nature 450:124-127(2007) · Mapped (3)

Glutathione S-transferases pi 1, alpha 1 and M3 genetic polymorphisms and the risk of hepatocellular carcinoma in humans.

Ladero J.M., Martinez C., Fernandez J.M., Martin F., Garcia-Martin E., Ropero P., Villegas A., Diaz-Rubio M., Agundez J.A.

Pharmacogenomics 8:895-899(2007) · Mapped (12)

Cytoplasmic localization of mPER1 clock protein isoforms in the mouse retina.

Garcia-Fernandez J.M., Alvarez-Lopez C., Cernuda-Cernuda R.

Neurosci. Lett. 419:55-58(2007) · Mapped (10)

Molecular haplotyping of tandem single nucleotide polymorphisms by allele-specific PCR.

Canadas C., Sanchez-de-Abajo A., Fernandez J.M., Martin M., Diaz-Rubio E., Caldes T., de la Hoya M.

Anal. Biochem. 364:153-158(2007) · Mapped (5)

Association study of serotonin 2A receptor (5-HT2A) and serotonin transporter (5-HTT) gene polymorphisms with schizophrenia.

Saiz P.A., Garcia-Portilla M.P., Arango C., Morales B., Alvarez V., Coto E., Fernandez J.M., Bascaran M.T., Bousono M., Bobes J.

Prog. Neuropsychopharmacol. Biol. Psychiatry 31:741-745(2007) · Mapped (7)

Contour length and refolding rate of a small protein controlled by engineered disulfide bonds.

Ainavarapu S.R., Brujic J., Huang H.H., Wiita A.P., Lu H., Li L., Walther K.A., Carrion-Vazquez M., Li H., Fernandez J.M.

Biophys. J. 92:225-233(2007) · Mapped (13)

Glutathione S-transferases mu 1, theta 1, pi 1, alpha 1 and mu 3 genetic polymorphisms and the risk of colorectal and gastric cancers in humans.

Martinez C., Martin F., Fernandez J.M., Garcia-Martin E., Sastre J., Diaz-Rubio M., Agundez J.A., Ladero J.M.

Pharmacogenomics 7:711-718(2006) · Mapped (18)

The mPer1 clock gene expression in the rd mouse suprachiasmatic nucleus is affected by the retinal degeneration.

Alvarez-Lopez C., Cernuda-Cernuda R., Garcia-Fernandez J.M.

Brain Res. 1087:134-141(2006) · Mapped (7)

Protective effect of the KCNMB1 E65K genetic polymorphism against diastolic hypertension in aging women and its relevance to cardiovascular risk.

Senti M., Fernandez-Fernandez J.M., Tomas M., Vazquez E., Elosua R., Marrugat J., Valverde M.A.

Circ. Res. 97:1360-1365(2005) · Mapped (2)

Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking.

Arniges M., Fernandez-Fernandez J.M., Albrecht N., Schaefer M., Valverde M.A.

J. Biol. Chem. 281:1580-1586(2006) · UniProtKB (1)

TRPV4 channel is involved in the coupling of fluid viscosity changes to epithelial ciliary activity.

Andrade Y.N., Fernandes J., Vazquez E., Fernandez-Fernandez J.M., Arniges M., Sanchez T.M., Villalon M., Valverde M.A.

J. Cell Biol. 168:869-874(2005) · Mapped (1)

The doublecortin gene, a new molecular marker to detect minimal residual disease in neuroblastoma.

Oltra S., Martinez F., Orellana C., Grau E., Fernandez J.M., Canete A., Castel V.

Diagn. Mol. Pathol. 14:53-57(2005) · Mapped (3)

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