Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Tarpey, P; Thomas, S; Sarvananthan, N; Mallya, U; Lisgo, S; Talbot, CJ; Roberts, EO; Awan, M; Surendran, M; McLean, RJ; Reinecke, RD; Langmann, A; Lindner, S; Koch, M; Jain, S; Woodruff, G; Gale, RP; Degg, C; Droutsas, K; Asproudis, I; Zubcov, AA; Pieh, C; Veal, CD; Machado, RD; Backhouse, OC; Baumber, L; Constantinescu, CS; Brodsky, MC; Hunter, DG; Hertle, RW; Read, RJ; Edkins, S; O'Meara, S; Parker, A; Stevens, C; Teague, J; Wooster, R; Futreal, PA; Trembath, RC; Stratton, MR; Raymond, FL; Gottlob, I.
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
NAT GENET. 2006; 38(11): 1242-1244. Doi: 10.1038/ng1893 [OPEN ACCESS]
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Co-Autor*innen der Med Uni Graz: Brandner Martina Christine; Langmann Andrea
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Abstract:: Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.
Find related publications in this database (using NLM MeSH Indexing): Brain - embryology; Chromosome Mapping - embryology; Chromosomes, Human, X - embryology; Cytoskeletal Proteins - genetics; Eye Movements - genetics; Female - genetics; Gene Expression Regulation, Developmental - genetics; Genes, X-Linked - genetics; Humans - genetics; Linkage (Genetics) - genetics; Male - genetics; Membrane Proteins - genetics; Mutation - physiology; Nystagmus, Congenital - genetics; Pedigree - genetics; Retina - metabolism