Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Lauren Cascio"'
Autor:
Laura Pérez-Cano, Luigi Boccuto, Francesco Sirci, Jose Manuel Hidalgo, Samuel Valentini, Mattia Bosio, Xavier Liogier D’Ardhuy, Cindy Skinner, Lauren Cascio, Sujata Srikanth, Kelly Jones, Caroline B. Buchanan, Steven A. Skinner, Baltazar Gomez-Mancilla, Jean-Marc Hyvelin, Emre Guney, Lynn Durham
Publikováno v:
Biomedicines, Vol 12, Iss 5, p 991 (2024)
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. The diagnosis of ASD is currently based on behavior criteria, which overlooks the diversity of genetic, neurophysiological,
Externí odkaz:
https://doaj.org/article/99e14b1507f44f089bac317a643a73d9
Autor:
Sujata Srikanth, Lauren Cascio, Rini Pauly, Kelly Jones, Skylar Sorrow, Rossana Cubillan, Chin-Fu Chen, Cindy D. Skinner, Kevin Champaigne, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Publikováno v:
Data in Brief, Vol 39, Iss , Pp 107598- (2021)
Experiments employing the Phenotype Mammalian Microarray (PM-M) technology were performed on lymphoblastoid cell lines (LCLs) from individuals with autism spectrum disorder (ASD) and age-matched controls. We used the custom-made PM-M plate designed t
Externí odkaz:
https://doaj.org/article/1e46527825824faaabfb3f47fd12c4dc
Autor:
Sujata Srikanth, Lavanya Jain, Cinthya Zepeda-Mendoza, Lauren Cascio, Kelly Jones, Rini Pauly, Barb DuPont, Curtis Rogers, Sara Sarasua, Katy Phelan, Cynthia Morton, Luigi Boccuto
Publikováno v:
PLoS ONE, Vol 16, Iss 7, p e0253859 (2021)
Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic a
Externí odkaz:
https://doaj.org/article/f1e267b546f04ca790d99f80fd77785b
Autor:
Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly Jones, Cindy D. Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Autism spectrum disorder (ASD) is a common neurodevelopmental disorder whose molecular mechanisms are largely unknown. Several studies have shown an association between ASD and abnormalities in the metabolism of amino acids, speci
Externí odkaz:
https://doaj.org/article/10a44e8186d040c3873679b7885f54e7
Autor:
Chong Li, Jennifer M. Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V. Malicdan, Hongbo Wang, Luigi Boccuto, Charles E. Schwartz, William A. Gahl, Cornelius F. Boerkoel, R. Grace Zhai
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Mutations in spermine synthase lead to Snyder-Robinson syndrome, a form of intellectual disability syndrome. Here the authors develop a Drosophila model of this disease, and show that lysosomal dysfunction and oxidative stress contribute to the morph
Externí odkaz:
https://doaj.org/article/5308d37db71b41d29e24ce8ca83bcc96
Autor:
Chong Li, Jennifer M. Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V. Malicdan, Hongbo Wang, Luigi Boccuto, Charles E. Schwartz, William A. Gahl, Cornelius F. Boerkoel, R. Grace Zhai
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
The originally published version of this Article contained errors in Figure 1. In panel c, the grey shading denoting evolutionary conservation and the arrowheads indicating amino acids affected in Snyder-Robinson syndrome were displaced relative to t
Externí odkaz:
https://doaj.org/article/e8956b7df6b54d48be6047c1abdfabb6
Autor:
Bridgette A. Moffitt, Lindsay M. Oberman, Laura Beamer, Sujata Srikanth, Lavanya Jain, Lauren Cascio, Kelly Jones, Rini Pauly, Melanie May, Cindy Skinner, Caroline Buchanan, Barbara R. DuPont, Walter E. Kaufmann, Kathleen Valentine, Linda D. Ward, Diana Ivankovic, R. Curtis Rogers, Katy Phelan, Sara M. Sarasua, Luigi Boccuto
Publikováno v:
Clinical Genetics.
Autor:
Jessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, Rini Pauly, Catherine A Ziats, David B Everman, Steven A Skinner, Shannon Bell, Raymond J Louie, Lauren Cascio, Wesley G Patterson, Julie R Jones, Nataliya Di Donato, Roger E Stevenson, Luigi Boccuto
Publikováno v:
Human molecular genetics.
Mosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphoinositide 3-kinase (PI3K), produce constitutive PI3K activation, which causes PIK3CA-related overgrowth spectrum disorders. To date, fewer than 20 patients have been describ
Autor:
Cindy Skinner, Luigi Boccuto, Kelly Jones, Sujata Srikanth, Walter E. Kaufmann, Sara M. Sarasua, Bridgette Allen, Melanie May, Barbara R. DuPont, Lindsay M. Oberman, Katy Phelan, Lauren Cascio, Curtis Rogers, Lavanya Jain, Laura Beamer
Publikováno v:
Clinical geneticsREFERENCES. 101(1)
Phelan-McDermid syndrome (PMS) (OMIM*606232) is a rare genetic disorder characterized by intellectual disability, autistic features, speech delay, minor dysmorphia, and seizures. This study was conducted to investigate the prevalence of seizures and
Autor:
Luigi Boccuto, Jenny-Li Örsell, Rini Pauly, Sujata Srikanth, Yuri A. Zarate, Katherine A. Bosanko, Lauren Cascio
Publikováno v:
Metabolic brain disease. 36(5)
SATB2-associated syndrome (SAS) is a multisystemic disorder characterized by developmental delay often with concurrent autistic tendencies. This study aimed to characterize cellular metabolic pathways and energy metabolism from cells derived from ind