Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7

Autor: Elisa Maria Turco, Ersilia Vinci, Filomena Altieri, Daniela Ferrari, Barbara Torres, Marina Goldoni, Giuseppe Lamorte, Ada Maria Tata, Gianluigi Mazzoccoli, Diana Postorivo, Matteo Della Monica, Laura Bernardini, Angelo Luigi Vescovi, Jessica Rosati

Publikováno v: Stem Cell Research, Vol 32, Iss , Pp 73-77 (2018)

CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (C

Externí odkaz: https://doaj.org/article/2be36cd9f65f42a4812c977fa079ede6

SULT4A1 Modulates Synaptic Development and Function by Promoting the Formation of PSD-95/NMDAR Complex

Autor: Tobias M. Boeckers, Chiara Verpelli, Ersilia Vinci, Massimo Mantegazza, Vania Broccoli, Alessandro Sessa, Paolo Scalmani, Benedetta Terragni, Lorenza Culotta

Publikováno v: Journal of Neuroscience
Journal of Neuroscience, Society for Neuroscience, 2020, 40 (37), pp.7013-7026. ⟨10.1523/JNEUROSCI.2194-19.2020⟩
The journal of neuroscience 40(37), 7013-7026 (2020). doi:10.1523/JNEUROSCI.2194-19.2020
J Neurosci

Sulfotransferase 4A1 (SULT4A1) is a cytosolic sulfotransferase that is highly conserved across species and extensively expressed in the brain. However, the biological function of SULT4A1 is unclear. SULT4A1 has been implicated in several neuropsychia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3fd345cc27faa96a4807fe785c38e6a
https://hal.archives-ouvertes.fr/hal-03011735

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome

Autor: Giuseppe Lamorte, Jessica Rosati, Daniela Ferrari, Laura Bernardini, Gianluigi Mazzoccoli, Matteo Della Monica, Angelo L. Vescovi, Antonella De Jaco, Elisa Maria Turco, Annamaria Nardone, Ersilia Vinci, Filomena Altieri, Barbara Torres

Publikováno v: Stem Cell Research, Vol 28, Iss, Pp 153-156 (2018)

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a085952af3911fae3616d629973c25d
https://doi.org/10.1016/j.scr.2018.02.016