Search Results - "Schorderet, D.F."

Circadian regulation of islet genes involved in insulin production and secretion by Allaman-Pillet, N., Roduit, R., Oberson, A., Abdelli, S., Ruiz, J., Beckmann, J.S., Schorderet, D.F., Bonny, C.

“…Both transcription factors albumin site d-binding protein (DBP) and thyrotroph embryonic factor (TEF) are elements of the “cell-clock”. Their circadian…”
Get full text

Mutation Hot Spots in 5q31-Linked Corneal Dystrophies by Korvatska, E., Munier, F.L., Djemaï, A., Wang, M.X., Frueh, B., Chiou, A.G.-Y., Uffer, S., Ballestrazzi, E., Braunstein, R.E., Forster, R.K., Culbertson, W.W., Boman, H., Zografos, L., Schorderet, D.F.

“…Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant diseases of the human cornea: granular (Groenouw type I), Reis-Bücklers,…”
Get full text

ERK1/2 pathway is activated in degenerated Rpe65-deficient mice by Métrailler, S., Emery, M., Schorderet, D.F., Cottet, S., Roduit, R.

“…The MAPK family is composed of three majors kinases, JNK, p38 and ERK1/2, and is implicated in many degenerative processes, including retinal cell death. The…”
Get full text

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 : Redefining DYT14 as DYT5 by WIDER, C, MELQUIST, S, STEPHAN, D. A, SCHORDERET, D. F, GHIKA, J, BURKHARD, P. R, KAPATOS, G, HUTTON, M, FARRER, M. J, WSZOLEK, Z. K, VINGERHOETS, F. J. G, HAUF, M, SOLIDA, A, COBB, S. A, KACHERGUS, J. M, GASS, J, COON, K. D, BAKER, M, CANNON, A

“…To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD). Clinical investigation was made of available family members,…”
Get full text

Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease) by Lobrinus, J.A., Schorderet, D.F., Payot, M., Jeanrenaud, X., Bottani, A., Superti-Furga, A., Schlaepfer, J., Fromer, M., Jeannet, P.-Y.

“…A family with several cases of severe cardiomyopathy and moderate myopathy is described, affecting two brothers and their cousin as well as their mothers. One…”
Get full text

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy by Marchant, D., Gogat, K., Boutboul, S., Péquignot, M., Sternberg, C., Dureau, P., Roche, O., Uteza, Y., Hache, J.C., Puech, B., Puech, V., Dumur, V., Mouillon, M., Munier, F.L., Schorderet, D.F., Marsac, C., Dufier, J.L., Abitbol, M.

“…ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons…”
Get full text

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy: Mutations in Brief by Marchant, D., Gogat, K., Boutboul, S., Péquignot, M., Sternberg, C., Dureau, P., Roche, O., Uteza, Y., Hache, J.C., Puech, B., Puech, V., Dumur, V., Mouillon, M., Munier, F.L., Schorderet, D.F., Marsac, C., Dufier, J.L., Abitbol, M.

Get full text

689 Hétérogénéité clinique et mutationnelle chez une grande famille consanguine Stargardt-like by Largueche, L., Ouechtati, F., Derouiche, K., Merdassi, A., Tiab, L., Schorderet, D.F., Munier, F.L., Abdelhak, S., El Matri, L.

“…La maladie de Stargardt est la plus fréquente des hérédo-dégénérescences maculaires et peut se manifester sous différentes formes cliniques. Il s’agit le plus…”
Get full text

The Human TAX1 Gene Encoding the Axon-Associated Cell Adhesion Molecule TAG-1/Axonin-1: Genomic Structure and Basic Promoter by Kozlov, Serguei V., Giger, Roman J., Hasler, Thomas, Korvatska, Elena, Schorderet, Daniel F., Sonderegger, Peter

“…The human TAX-1 gene (HGMW-approved symbol TAX1) is located on chromosome 1 (1q32.1) and encodes the neuronal cell adhesion molecule TAG-1/axonin-1. The gene…”
Get full text

MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland by Mataftsi, A., Achache, F., Héon, E., Mermoud, A., Cousin, P., Metthez, G., Schorderet, D.F., Munier, F.L.

“…Purpose: To determine MYOC gene mutation frequency in patients with primary open-angle glaucoma (POAG) from Western Switzerland. Methods: A total of 117…”
Get full text

4122 Zermatt macular dystrophy: a new autosomal dominant phenotype and exclusion of known macular genes by Piguet, B., Munier, F.L., Héon, E., Pescia, G., Schorderet, D.F., Stone, E.

Get full text

Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy by Marchant, D., Gogat, K., Dureau, P., Sainton, K., Sternberg, C., Gadin, S., Dollfus, H., Brasseur, G., Hache, J.C., Dumur, V., Puech, V., Munier, F.L., Schorderet, D.F., Marsac, C., Menasche, M., Dufier, J.L., Abitbol, M.

“…We identified three novel VMD2 mutations in patients with Best's macular dystrophy. DHPLC analysis of the 11 VMD2 exons revealed abnormal profiles in exon 8…”
Get full text

The 5′ Repeat Elements of the Mouse Xist Gene Inhibit the Transcription of X-Linked Genes by Allaman-Pillet, DJEMAÏ, Bonny, Schorderet

“…X chromosome inactivation in mammals requires the Xist gene, which is exclusively expressed from the inactive X chromosome (Xi). The large heterogeneous Xist…”
Get full text

Récidive d’une dystrophie de Groenouw de type I après photokératectomie thérapeutique by Chiambaretta, F., Pilon, F., Deriot, J.-B., Gerard, M., Couleangon, M.-L., Schorderet, D.F., Kemeny, J.-L., Dastugue, B., Creveaux, I., Rigal, D.

“…La dystrophie cornéenne Groenouw de type I est due à des mutations du gène BIGH-3. Transmise selon le mode autosomique dominant, elle se caractérise par la…”
Get full text