20 results for author:"Flori E." in Literature citations
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| Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Thierry G., Beneteau C., Pichon O., Flori E., Isidor B., Popelard F., Delrue M.A., Duboscq-Bidot L., Thuresson A.C., van Bon B.W. et al. Am. J. Med. Genet. A 158A:1633-1640(2012) · Mapped (11) |
| Cystinosin is a melanosomal protein that regulates melanin synthesis. Chiaverini C., Sillard L., Flori E., Ito S., Briganti S., Wakamatsu K., Fontas E., Berard E., Cailliez M., Cochat P. et al. FASEB J. 26:3779-3789(2012) · Mapped (4) |
| Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., Alanay Y., Brady A.F., Crow Y.J., Devriendt K. et al. J. Med. Genet. 48:417-421(2011) · UniProtKB (1) · Mapped (2) |
| Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Fradin M., Stoetzel C., Muller J., Koob M., Christmann D., Debry C., Kohler M., Isnard M., Astruc D., Desprez P. et al. Clin. Genet. 80:177-183(2011) · Mapped (1) |
| Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Iannicelli M., Brancati F., Mougou-Zerelli S., Mazzotta A., Thomas S., Elkhartoufi N., Travaglini L., Gomes C., Ardissino G.L., Bertini E. et al. Hum. Mutat. 31:E1319-31(2010) · Mapped (2) |
| p38 regulates pigmentation via proteasomal degradation of tyrosinase. Bellei B., Maresca V., Flori E., Pitisci A., Larue L., Picardo M. J. Biol. Chem. 285:7288-7299(2010) · Mapped (3) |
| Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. Philibert P., Audran F., Pienkowski C., Morange I., Kohler B., Flori E., Heinrich C., Dacou-Voutetakis C., Joseph M.G., Guedj A.M. et al. Fertil. Steril. 94:472-476(2010) · Mapped (11) |
| DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Dagoneau N., Goulet M., Genevieve D., Sznajer Y., Martinovic J., Smithson S., Huber C., Baujat G., Flori E., Tecco L. et al. Am. J. Hum. Genet. 84:706-711(2009) · UniProtKB (1) |
| Keratinocyte growth factor down-regulates intracellular ROS production induced by UVB. Kovacs D., Raffa S., Flori E., Aspite N., Briganti S., Cardinali G., Torrisi M.R., Picardo M. J. Dermatol. Sci. 54:106-113(2009) · Mapped (3) |
| Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Marion V., Stoetzel C., Schlicht D., Messaddeq N., Koch M., Flori E., Danse J.M., Mandel J.-L., Dollfus H. Proc. Natl. Acad. Sci. U.S.A. 106:1820-1825(2009) · UniProtKB (2) · Mapped (1) |
| ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Le Goff C., Morice-Picard F., Dagoneau N., Wang L.W., Perrot C., Crow Y.J., Bauer F., Flori E., Prost-Squarcioni C., Krakow D. et al. Nat. Genet. 40:1119-1123(2008) · UniProtKB (2) · Mapped (11) |
| GSK3beta inhibition promotes melanogenesis in mouse B16 melanoma cells and normal human melanocytes. Bellei B., Flori E., Izzo E., Maresca V., Picardo M. Cell. Signal. 20:1750-1761(2008) · Mapped (4) |
| Three new BLM gene mutations associated with Bloom syndrome. Amor-Gueret M., Dubois-d'Enghien C., Lauge A., Onclercq-Delic R., Barakat A., Chadli E., Bousfiha A.A., Benjelloun M., Flori E., Doray B. et al. Genet. Test. 12:257-261(2008) · Mapped (6) |
| Microphthalmia-associated transcription factor regulates RAB27A gene expression and controls melanosome transport. Chiaverini C., Beuret L., Flori E., Busca R., Abbe P., Bille K., Bahadoran P., Ortonne J.P., Bertolotto C., Ballotti R. J. Biol. Chem. 283:12635-12642(2008) · Mapped (18) |
| SRPX2 mutations in disorders of language cortex and cognition. Roll P., Rudolf G., Pereira S., Royer B., Scheffer I.E., Massacrier A., Valenti M.-P., Roeckel-Trevisiol N., Jamali S., Beclin C. et al. Hum. Mol. Genet. 15:1195-1207(2006) · UniProtKB (1) |
| Ferritin light chain down-modulation generates depigmentation in human metastatic melanoma cells by influencing tyrosinase maturation. Maresca V., Flori E., Cardinali G., Briganti S., Lombardi D., Mileo A.M., Paggi M.G., Picardo M. J. Cell. Physiol. 206:843-848(2006) · Mapped (5) |
| Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. de Saint Basile G., Geissmann F., Flori E., Uring-Lambert B., Soudais C., Cavazzana-Calvo M., Durandy A., Jabado N., Fischer A., Le Deist F. J. Clin. Invest. 114:1512-1517(2004) · Mapped (5) |
| Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Navarro C.L., De Sandre-Giovannoli A., Bernard R., Boccaccio I., Boyer A., Genevieve D., Hadj-Rabia S., Gaudy-Marqueste C., Smitt H.S., Vabres P. et al. Hum. Mol. Genet. 13:2493-2503(2004) · UniProtKB (2) · Mapped (11) |
| Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Amiel J., Attie T., Jan D., Pelet A., Edery P., Bidaud C., Lacombe D., Tam P., Simeoni J., Flori E. et al. Hum. Mol. Genet. 5:355-357(1996) · UniProtKB (1) |
| Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization. Desbois-Mouthon C., Sert-Langeron C., Magre J., Oreal E., Blivet M.J., Flori E., Besmond C., Capeau J., Caron M. J. Clin. Endocrinol. Metab. 81:719-727(1996) · UniProtKB (1) |