Research Topics
Genomes and Genes | Christina ZeitzSummaryCountry: France Publications
| Collaborators
|
Detail Information
Publications
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reportsIsabelle Audo
INSERM, UMRS968, Paris, F 75012, France
BMC Med Genet 11:145. 2010....- Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNBChristina Zeitz
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
Invest Ophthalmol Vis Sci 49:4105-14. 2008..The study was conducted to identify the genetic defect in a large Swiss family affected with adCSNB and to investigate the pathogenic mechanism of the mutation... - Genotyping microarray for CSNB-associated genesChristina Zeitz
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
Invest Ophthalmol Vis Sci 50:5919-26. 2009.... - An unusual retinal phenotype associated with a novel mutation in RHOIsabelle Audo
Institut National de la Sante et de la Recherche Medicale, Paris, France
Arch Ophthalmol 128:1036-45. 2010..To report a new genetic variant in the rhodopsin gene (RHO) associated with an unusual autosomal dominant retinal phenotype... - Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patientsIsabelle Audo
INSERM, U968, Paris, France
Invest Ophthalmol Vis Sci 51:3687-700. 2010..The detailed phenotype-genotype analyses in all available family members deliver the basis for therapeutic approaches in those families... - A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese familyIsabelle Audo
INSERM, U968, Paris, France
Mol Vis 17:1598-606. 2011..To identify the genetic defect of a consanguineous Portuguese family with rod-cone dystrophy and varying degrees of decreased audition... - EYS is a major gene for rod-cone dystrophies in FranceIsabelle Audo
INSERM U968, Department of Genetics, Institut de la Vision, UPMC Univ Paris 06, 17 rue Moreau, Paris, France
Hum Mutat 31:E1406-35. 2010..With a prevalence of 12% or more we provide evidence that EYS is a major gene for RP in France and probably elsewhere... - Identification and characterization of a novel RPGR isoform in human retinaJohn Neidhardt
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
Hum Mutat 28:797-807. 2007..The nucleotide substitution affects regulated alternative splicing of the novel RPGR isoform and suggests a tight adjustment of splicing as a prerequisite for proper function of photoreceptors... - Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophyKatharina Agnes Wycisk
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
Am J Hum Genet 79:973-7. 2006..Both patients share symptoms of slowly progressing cone dystrophy. These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy... - Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein traffickingChristina Zeitz
Institute of Medical Genetics, Division of Medical Molecular Genetics and Gene Diagnostics, University of Zurich, Zurich, Switzerland
Hum Mutat 28:771-80. 2007..We propose that the ligand-binding and the poorly characterized cysteine-rich domains, in addition to the intracellular domains, have a pivotal role in correct trafficking of metabotropic glutamate receptors to the cell surface... - Novel C2orf71 mutations account for ?1% of cases in a large French arRP cohortIsabelle Audo
INSERM, U968, Paris, F 75012, France
Hum Mutat 32:E2091-103. 2011..To our knowledge, our study provides the first large scale screening of C2orf71 in a French arRP cohort through direct sequencing and suggests that it would account for approximately 1% of arRP cases... - TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo
INSERM, UMR_S968, F 75012, Paris, France
Am J Hum Genet 85:720-9. 2009..The mutation spectrum comprises missense, splice-site, deletion, and nonsense mutations. We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells... - Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindnessChristina Zeitz
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
Mol Vis 11:179-83. 2005..To describe the clinical features and genetic analysis of eight X-linked congenital stationary night blindness (XLCSNB) Dutch patients... - Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessChristina Zeitz
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
Am J Hum Genet 79:657-67. 2006..We also show that these mutations reduce the transcript levels to 30%-40% of those in controls. This suggests that the reduced amount of CABP4 is the reason for the signaling defect in these patients... - Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogramChristina Zeitz
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
Invest Ophthalmol Vis Sci 46:4328-35. 2005..Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the current study, the human orthologue (GRM6) was screened as a likely candidate for arCSNB... - RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlationIsabelle Audo
INSERM, UMRS968, Paris, F 75012, France
Hum Mutat 33:73-80. 2012..Variable penetrance of the disease was observed in our and other cohorts. Most patients with RP1 mutations show classical signs of RP with relatively preserved central vision and visual field... - CRB1 mutations in inherited retinal dystrophiesKinga Bujakowska
INSERM, U968, Paris, France
Hum Mutat 33:306-15. 2012..This meta-analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination... - Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuriaBarbara Kloeckener-Gruissem
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University Zurich, CH 8603 Schwerzenbach, Switzerland
Am J Hum Genet 82:772-9. 2008..This report demonstrates biological relevance of this solute carrier. We hypothesize that SLC16A12 is important for lens and kidney homeostasis and discuss its potential role in age-related cataract... - Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retinaRonja Bahadori
Swiss Federal Institute of Technology ETH Zurich, Department of Biology, at the University Zurich, Zurich, Switzerland
Eur J Neurosci 24:1664-74. 2006..We therefore demonstrated that nyctalopin plays a similar role in retinal synapse function in the cone pathway as in the rod pathway, thereby creating a genetic model for CSNB1 and its effects on cone vision... - NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface proteinChristina Zeitz
Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
Invest Ophthalmol Vis Sci 44:4184-91. 2003..Therefore, the cellular localization for the mouse Nyx protein was also examined... - Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retinaKatrin Pesch
Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Germany
Invest Ophthalmol Vis Sci 44:2260-6. 2003..This study describes the isolation and molecular characterization of the mouse orthologue Nyx and its expression pattern in the retina...