Search results for "Séquençage haut-débit"
showing 3 items of 3 documents
Molecular community and population studies of arbuscular mycorrhizal fungi (Glomeromycota)
2014
The arbuscular mycorrhizal symbiosis, which appeared at the same time as land plants, 460 million years ago, is a mutualistic beneficial association between most land plants, including those cultivated, and arbuscular mycorrhizal fungi (AMF). AMF, from the Glomeromycota phylum, are widespread soil microorganisms needing a photosynthetic host to complete their life cycle (obligate symbionts). The great potential of plant mineral nutrition improvement and crop production increased during this symbiosis, make AMF an asset in the context of an increase in the demand of world food crop production. The control of that symbiosis by ecology engineering in order to improve ecosystem services, especi…
L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de…
2019
Developmental disorders (DD) include malformative disorders and neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). These clinical features can be isolated or combined in a given patient, they affect around 3% of worldwide population. These disorders are responsible for major morbidity and mortality, for hospitalization especially in pediatric departments, for disabilities and, therefore, this represents a public health priority. Since 2004, in France, several national plans were conducted and extended, the last one being the 3rd National Plan for Rare Disorders (PNMR 2018-2022) which include 10 main goals, among others increasing diagnosis…
Identification of molecular and physiopathologic basis in oral-facial-digital syndromes
2016
Oral-facial-digital syndromes (OFDS) are characterized by the association of oral, facial and digital anomalies. The different modes of inheritance and additional features lead to clinically delineate 13 subtypes. For a long time, only the OFD1 gene, responsible for OFDI subtype and coding for a centrosomal protein, has been known, suggesting the involvement of the primary cilium in OFDS. Mutations have recently been reported in the TMEM216, DDX59, SCLT1, TBC1D32 and TCTN3 genes in anecdotic cases. To identify new genes involved in OFDS, we performed whole-exome sequencing in 24 patients. In 14/24 cases, we identified 5 novel genes (C2CD3, TMEM107, INTU, KIAA0753, IFT57), enlarged the clini…