Search Results - "Monaco, Anthony P."

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments by Leblond, Claire S, Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M, Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I Carina, Rappold, Gudrun A, Holt, Richard, Monaco, Anthony P, Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J, Boeckers, Tobias M, Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W, Rouleau, Guy A, Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas

“…SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on…”
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The Role of mTOR Inhibitors in the Management of Posttransplant Malignancy by MONACO, Anthony P

“…Organ transplant recipients given mammalian target of rapamycin inhibitor (mTORi) have reduced incidence of de novo posttransplant malignancies (dNPTMs)…”
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Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility by Yeshaw, Wondwossen M, van der Zwaag, Marianne, Pinto, Francesco, Lahaye, Liza L, Faber, Anita Ie, Gómez-Sánchez, Rubén, Dolga, Amalia M, Poland, Conor, Monaco, Anthony P, van IJzendoorn, Sven Cd, Grzeschik, Nicola A, Velayos-Baeza, Antonio, Sibon, Ody Cm

“…The gene is associated with the neurodegenerative disorder Chorea Acanthocytosis. It is unknown what the consequences are of impaired function of VPS13A at the…”
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A Functional Genetic Link between Distinct Developmental Language Disorders by Vernes, Sonja C, Newbury, Dianne F, Abrahams, Brett S, Winchester, Laura, Nicod, Jérôme, Groszer, Matthias, Alarcón, Maricela, Oliver, Peter L, Davies, Kay E, Geschwind, Daniel H, Monaco, Anthony P, Fisher, Simon E

“…This study shows an association between variants of CNTNAP2 and a diminished ability to repeat nonsense words, a behavioral marker of specific language…”
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Common variants in left/right asymmetry genes and pathways are associated with relative hand skill by Brandler, William M, Morris, Andrew P, Evans, David M, Scerri, Thomas S, Kemp, John P, Timpson, Nicholas J, St Pourcain, Beate, Smith, George Davey, Ring, Susan M, Stein, John, Monaco, Anthony P, Talcott, Joel B, Fisher, Simon E, Webber, Caleb, Paracchini, Silvia

“…Humans display structural and functional asymmetries in brain organization, strikingly with respect to language and handedness. The molecular basis of these…”
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Identification of VPS13C as a Galectin-12-Binding Protein That Regulates Galectin-12 Protein Stability and Adipogenesis by Yang, Ri-Yao, Xue, Huiting, Yu, Lan, Velayos-Baeza, Antonio, Monaco, Anthony P, Liu, Fu-Tong

“…Galectin-12, a member of the galectin family of β-galactoside-binding animal lectins, is preferentially expressed in adipocytes and required for adipocyte…”
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A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12 by Asher, Julian E., Lamb, Janine A., Brocklebank, Denise, Cazier, Jean-Baptiste, Maestrini, Elena, Addis, Laura, Sen, Mallika, Baron-Cohen, Simon, Monaco, Anthony P.

“…Synesthesia, a neurological condition affecting between 0.05%–1% of the population, is characterized by anomalous sensory perception and associated alterations…”
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The genetic lexicon of dyslexia by Paracchini, Silvia, Scerri, Thomas, Monaco, Anthony P

“…Reading abilities are acquired only through specific teaching and training. A significant proportion of children fail to achieve these skills despite normal…”
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Molecular evolution of FOXP2 , a gene involved in speech and language by Pääbo, Svante, Enard, Wolfgang, Przeworski, Molly, Fisher, Simon E, Lai, Cecilia S. L, Wiebe, Victor, Kitano, Takashi, Monaco, Anthony P

“…Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on…”
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AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice by Guidi, Luiz G., Holloway, Zoe G., Arnoult, Christophe, Ray, Pierre F., Monaco, Anthony P., Molnár, Zoltán, Velayos-Baeza, Antonio

“…Study of knockout (KO) mice has helped understand the link between many genes/proteins and human diseases. Identification of infertile KO mice provides…”
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Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps by Holloway, Zoe G, Velayos-Baeza, Antonio, Howell, Gareth J, Levecque, Clotilde, Ponnambalam, Sreenivasan, Sztul, Elizabeth, Monaco, Anthony P

“…The transporter ATP7A mediates systemic copper absorption and provides cuproenzymes in the trans-Golgi network (TGN) with copper. To regulate metal…”
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CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment by Newbury, Dianne F., Winchester, Laura, Addis, Laura, Paracchini, Silvia, Buckingham, Lyn-Louise, Clark, Ann, Cohen, Wendy, Cowie, Hilary, Dworzynski, Katharina, Everitt, Andrea, Goodyer, Ian M., Hennessy, Elizabeth, Kindley, A. David, Miller, Laura L., Nasir, Jamal, O'Hare, Anne, Shaw, Duncan, Simkin, Zoe, Simonoff, Emily, Slonims, Vicky, Watson, Jocelynne, Ragoussis, Jiannis, Fisher, Simon E., Seckl, Jonathon R., Helms, Peter J., Bolton, Patrick F., Pickles, Andrew, Conti-Ramsden, Gina, Baird, Gillian, Bishop, Dorothy V.M., Monaco, Anthony P.

“…Specific language impairment (SLI) is a common developmental disorder characterized by difficulties in language acquisition despite otherwise normal…”
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A forkhead-domain gene is mutated in a severe speech and language disorder by Monaco, Anthony P, Lai, Cecilia S. L, Fisher, Simon E, Hurst, Jane A, Vargha-Khadem, Faraneh

“…Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the…”
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An epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults by Monaco, Anthony P

“…Prevalence rates of mental health disorders in children and adolescents have increased two to threefold from the 1990s to 2016. Some increase in prevalence may…”
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Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits by MacDermot, Kay D., Bonora, Elena, Sykes, Nuala, Coupe, Anne-Marie, Lai, Cecilia S.L., Vernes, Sonja C., Vargha-Khadem, Faraneh, McKenzie, Fiona, Smith, Robert L., Monaco, Anthony P., Fisher, Simon E.

“…FOXP2, the first gene to have been implicated in a developmental communication disorder, offers a unique entry point into neuromolecular mechanisms influencing…”
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Multivariate Linkage Analysis of Specific Language Impairment (SLI) by Monaco, Anthony P.

“…SUMMARY Specific language impairment (SLI) is defined as an inability to develop appropriate language skills without explanatory medical conditions, low…”
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The selfish environment meets the selfish gene: Coevolution and inheritance of RNA and DNA pools: A model for organismal life incorporating coevolution, horizontal transfer, and inheritance of internal and external RNA and DNA pools by Monaco, Anthony P.

“…Throughout evolution, there has been interaction and exchange between RNA pools in the environment, and DNA and RNA pools of eukaryotic organisms. Metagenomic…”
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A common variant associated with dyslexia reduces expression of the KIAA0319 gene by Dennis, Megan Y, Paracchini, Silvia, Scerri, Thomas S, Prokunina-Olsson, Ludmila, Knight, Julian C, Wade-Martins, Richard, Coggill, Penny, Beck, Stephan, Green, Eric D, Monaco, Anthony P

“…Numerous genetic association studies have implicated the KIAA0319 gene on human chromosome 6p22 in dyslexia susceptibility. The causative variant(s) remains…”
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Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A and ABAT by Barnby, Gabrielle, Abbott, Aaron, Sykes, Nuala, Morris, Andrew, Weeks, Daniel E., Mott, Richard, Lamb, Janine, Bailey, Anthony J., Monaco, Anthony P.

“…Autism is a highly heritable neurodevelopmental disorder whose underlying genetic causes have yet to be identified. To date, there have been eight genome…”
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Donation After Circulatory Death: Current Practices, Ongoing Challenges, and Potential Improvements by Morrissey, Paul E, Monaco, Anthony P

“…Organ donation after circulatory death (DCD) has been endorsed by the World Health Organization and is practiced worldwide. This overview examines current DCD…”
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