Person
Tatiana Favez
Related publications (8)
Tuning SAS-6 architecture with monobodies impairs distinct steps of centriole assembly
Georg Fantner, Georgios Hatzopoulos, Tatiana Favez, Oliver Hantschel, Virginie Hamel, Niccolo Banterle, Santiago Harald Andany
Centrioles are evolutionarily conserved multi-protein organelles essential for forming cilia and centrosomes. Centriole biogenesis begins with self-assembly of SAS-6 proteins into 9-fold symmetrical ring polymers, which then stack into a cartwheel that sca ...
NATURE RESEARCH2021Pulchelloid A, a sesquiterpene lactone from the Canadian prairie plant Gaillardia aristata inhibits mitosis in human cells
Pierre Gönczy, Georgios Hatzopoulos, Tatiana Favez
Background The Canadian prairie ecosystem presents a rich source of natural products from plants that are subjected to herbivory by grazing mammals. This type of ecological competition may contribute to the production of natural products of interest in cel ...
SPRINGER2021JNK Inhibition Reduced Retinal Ganglion Cell Death after Ischemia/Reperfusion In Vivo and after Hypoxia In Vitro
Mitogen-activated protein kinases (MAPKs) are key regulators that have been linked to cell survival and death. Among the main classes of MAPKs, c-jun N-terminal kinase (JNK) has been shown to mediate cell stress responses associated with apoptosis. In Vitr ...
Springer Int Publishing Ag2016Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract
Objective To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. Design, setting and participa ...
Bmj Publishing Group2014IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies-A Price Comparison with Sanger Sequencing
The molecular diagnosis of retinal dystrophies (RD) is difficult because of genetic and clinical heterogeneity. Previously, the molecular screening of genes was done one by one, sometimes in a scheme based on the frequency of sequence variants and the numb ...
Springer-Verlag Berlin2014Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families
Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3 (ALDH1 ...
Wiley-Blackwell2014IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies
Tatiana Favez, Alexandra Iouranova, Pascal Escher
The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted ex ...
Hindawi Publishing Corporation2013Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome
Patrick Descombes, Tatiana Favez
Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this dis ...
2011