Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Maria Capovilla"'
Autor:
Sara Milojevic, Arijit Ghosh, Vedrana Makevic, Maja Stojkovic, Maria Capovilla, Tomislav Tosti, Dejan Budimirovic, Dragana Protic
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7949 (2024)
Fragile X syndrome (FXS) is caused by the full mutation in the FMR1 gene on the Xq27.3 chromosome region. It is the most common monogenic cause of autism spectrum disorder (ASD) and inherited intellectual disability (ID). Besides ASD and ID and other
Externí odkaz:
https://doaj.org/article/ef7162aa2fa44d239b1b9c523b45fa57
Autor:
Maja Stojkovic, Milan Petrovic, Maria Capovilla, Sara Milojevic, Vedrana Makevic, Dejan B. Budimirovic, Louise Corscadden, Shuhan He, Dragana Protic
Publikováno v:
Biology, Vol 13, Iss 6, p 432 (2024)
Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism spectrum disorder, is caused by a full mutation (>200 CGG repeats) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. Individuals with
Externí odkaz:
https://doaj.org/article/1af7cf936b0f46f084fd0eb8e156dd9c
Autor:
Malgorzata Drozd, Sébastien Delhaye, Thomas Maurin, Sara Castagnola, Mauro Grossi, Frédéric Brau, Marielle Jarjat, Rob Willemsen, Maria Capovilla, Renate K. Hukema, Enzo Lalli, Barbara Bardoni
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 18, Iss , Pp 546-553 (2019)
Fragile X-associated tremor ataxia syndrome (FXTAS) is a rare disorder associated to the presence of the fragile X premutation, a 55–200 CGG repeat expansion in the 5′ UTR of the FMR1 gene. Two main neurological phenotypes have been described in
Externí odkaz:
https://doaj.org/article/12547d51214040b2ad0ebfb52e3a2f10
Autor:
Malgorzata Marta Drozd, Maria Capovilla, Carlo Previderé, Mauro Grossi, Florence Askenazy, Barbara Bardoni, Arnaud Fernandez
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Early-Onset Schizophrenia (EOS) is a very rare mental disorder that is a form of schizophrenia occurring before the age of 18. EOS is a brain disease marked by an early onset of positive and negative symptoms of psychosis that impact development and
Externí odkaz:
https://doaj.org/article/09c1efbc96494e458b5e265bb20e89ff
Autor:
Arnaud Fernandez, Malgorzata Marta Drozd, Susanne Thümmler, Emmanuelle Dor, Maria Capovilla, Florence Askenazy, Barbara Bardoni
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Childhood-onset schizophrenia (COS), a very rare and severe chronic psychiatric condition, is defined by an onset of positive symptoms (delusions, hallucinations and disorganized speech or behavior) before the age of 13. COS is associated with other
Externí odkaz:
https://doaj.org/article/c0b97fef476f42a49e20c8b601e0b82e
Publikováno v:
Cell Reports, Vol 15, Iss 7, Pp 1442-1454 (2016)
Summary: Neuroanatomical evidence argues for the presence of taste sensilla in Drosophila wings; however, the taste physiology of insect wings remains hypothetical, and a comprehensive link to mechanical functions, such as flight, wing flapping, and
Externí odkaz:
https://doaj.org/article/e835a206b6a34d2e9e89927dc0ca2592
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein
Externí odkaz:
https://doaj.org/article/f55bd5544dc84d66974a7584e29841aa
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0172780 (2017)
The hereditary transmission of a phenotype independent from DNA sequence implies epigenetic effects. Paramutation is a heritable epigenetic phenomenon observed in plants and animals. To investigate paramutation in Drosophila, we used the P{ry+t7.2 =
Externí odkaz:
https://doaj.org/article/8984eb791acb49d4b10847ab9758db32
Autor:
Claude Pasquier, Mathilde Clément, Aviv Dombrovsky, Stéphanie Penaud, Martine Da Rocha, Corinne Rancurel, Neil Ledger, Maria Capovilla, Alain Robichon
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e115022 (2014)
Heritability of acquired phenotypic traits is an adaptive evolutionary process that appears more complex than the basic allele selection guided by environmental pressure. In insects, the trans-generational transmission of epigenetic marks in clonal a
Externí odkaz:
https://doaj.org/article/4e79d2aa0a6742bfa57003860be27d53
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e92956 (2014)
The construction and prediction of cell fate maps at the whole embryo level require the establishment of an accurate atlas of gene expression patterns throughout development and the identification of the corresponding cis-regulatory sequences. Howeve
Externí odkaz:
https://doaj.org/article/7e315da85a0f4b5abbfb543f0b7c2443