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The functional specialization of exomer as a cargo adaptor during the evolution of fungi
(Genetics Society of America, 2018-04)
Yeast exomer is a heterotetrameric complex that is assembled at the trans-Golgi network, which is required for the delivery of a distinct set of proteins to the plasma membrane using ChAPs (Chs5-Arf1 binding proteins) Chs6 ...
Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
(Pergamon-Elsevier Science Ltd, 2018-12)
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...
Mapping causal mutations by exome sequencing in a wheat TILLING population: a tall mutant case study
(Springer Heidelberg, 2018-04)
Forward genetic screens of induced mutant plant populations are powerful tools to identify genes underlying phenotypes of interest. Using traditional techniques, mapping causative mutations from forward screens is a lengthy, ...
Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
(Nature Publishing Group, 2018-08)
Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes ...
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach
(Public Library of Science, 2018-02)
Background Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called “diagnostic odysseys”. Previous studies have provided ...
The Human Gene Damage Index as a Gene-level Approach to Prioritizing Exome Variants
(National Academy of SciencesInmunodeficiencias PrimariasWashington, Estados Unidos, 2023)
Large-scale molecular analysis of hereditary hearing loss genes in argentinean deaf patients: lookingfora needle in a haystack
(Springer, 2019)
Hereditary Hearing Loss (HHL) is a common trait affecting 1 in 2000 new born children. The presence of over 100 different genes involved in HHL, lead us to go on board with Whole Exome Sequencing (WES) in order to search ...
GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases
(BioMed Central, 2018-01)
Background: GenIO is a novel web-server, designed to assist clinical genomics researchers and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies the most probable variants causing a ...
Mutations modifying sporadic Alzheimer's disease age of onset
(Wiley-BlackwellGrupo de Neurociencias de AntioquiaHoboken, Estados Unidos, 2023)