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Mechanism of Translational Control by the Fragile X Mental Retardation Protein and Creation of the FMRP CTAG Mouse
Sarah Van Driesche
Jan 01, 0001
The Fragile X Mental Retardation Protein (FMRP) is a neuronal RNA-binding protein that is predominantly associated with polyribosomes. Loss of FMRP results in Fragile X Syndrome, characterized by mental retardation, autism and...
Published by: Rockefeller University
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Maria-Isabel Tejada, Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger Stevenson, Charles Schwartz, James AB Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Italian X-linked Mental Retardation Project, UK10K consortium, GOLD Consortium, Matthew Hurles, F Lucy Raymond
Sep 15, 2015
Mendelian disease developmental delay Intellectual Disability next-generation sequencing Alleles Cohort Studies Computational Biology Female Genetic Association Studies High-Throughput Nucleotide Sequencing Humans Inheritance Patterns Intellectual Disability Male Mutation Polymorphism Single Nucleotide
The contribution of X-linked coding variation to severe developmental disorders
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles, Silvia Borras, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper-Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai-Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury-Ecob, Andrew M. Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Steve Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo-Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw-Smith, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson, Carol Gardiner, Shelagh Joss, Esther Kinning, Cheryl Longman, Ruth McGowan, Victoria Murday, Daniela Pilz, Edward Tobias, Margo Whiteford, Nicola Williams, Angela Barnicoat, Emma Clement, Francesca Faravelli, Jane Hurst, Lucy Jenkins, Wendy Jones, V.K.Ajith Kumar, Melissa Lees, Sam Loughlin, Alison Male, Deborah Morrogh, Elisabeth Rosser, Richard Scott, Louise Wilson, Ana Beleza, Charu Deshpande, Frances Flinter, Muriel Holder, Melita Irving, Louise Izatt, Dragana Josifova, Shehla Mohammed, Aneta Molenda, Leema Robert, Wendy Roworth, Deborah Ruddy, Mina Ryten, Shu Yau, Christopher Bennett, Moira Blyth, Jennifer Campbell, Andrea Coates, Angus Dobbie, Sarah Hewitt, Emma Hobson, Eilidh Jackson, Rosalyn Jewell, Alison Kraus, Katrina Prescott, Eamonn Sheridan, Jenny Thomson, Kirsty Bradshaw, Abhijit Dixit, Jacqueline Eason, Rebecca Haines, Rachel Harrison, Stacey Mutch, Ajoy Sarkar, Claire Searle, Nora Shannon, Abid Sharif, Mohnish Suri, Pradeep Vasudevan, Natalie Canham, Ian Ellis, Lynn Greenhalgh, Emma Howard, Victoria Stinton, Andrew Swale, Astrid Weber, Siddharth Banka, Catherine Breen, Tracy Briggs, Emma Burkitt-Wright, Kate Chandler, Jill Clayton-Smith, Dian Donnai, Sofia Douzgou, Lorraine Gaunt, Elizabeth Jones, Bronwyn Kerr, Claire Langley, Kay Metcalfe, Audrey Smith, Ronnie Wright, David Bourn, John Burn, Richard Fisher, Steve Hellens, Alex Henderson, Tara Montgomery, Miranda Splitt, Volker Straub, Michael Wright, Simon Zwolinski, Zoe Allen, Birgitta Bernhard, Angela Brady, Claire Brooks, Louise Busby, Virginia Clowes, Neeti Ghali, Susan Holder, Rita Ibitoye, Emma Wakeling, Edward Blair, Jenny Carmichael, Deirdre Cilliers, Susan Clasper, Richard Gibbons, Usha Kini, Tracy Lester, Andrea Nemeth, Joanna Poulton, Sue Price, Debbie Shears, Helen Stewart, Andrew Wilkie, Shadi Albaba, Duncan Baker, Meena Balasubramanian, Diana Johnson, Michael Parker, Oliver Quarrell, Alison Stewart, Josh Willoughby, Charlene Crosby, Frances Elmslie, Tessa Homfray, Huilin Jin, Nayana Lahiri, Sahar Mansour, Karen Marks, Meriel McEntagart, Anand Saggar, Kate Tatton-Brown, Rachel Butler, Angus Clarke, Sian Corrin, Andrew Fry, Arveen Kamath, Emma McCann, Hood Mugalaasi, Caroline Pottinger, Annie Procter, Julian Sampson, Francis Sansbury, Vinod Varghese, Diana Baralle, Alison Callaway, Emma J. Cassidy, Stacey Daniels, Andrew Douglas, Nicola Foulds, David Hunt, Mira Kharbanda, Katherine Lachlan, Catherine Mercer, Lucy Side, I. Karen Temple, Diana Wellesley
Jan 27, 2021
Abstract: Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden...
The contribution of X-linked coding variation to severe developmental disorders.
Hilary C Martin, Eugene J Gardner, Kaitlin E Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y Eberhardt, Ana Lisa Taylor Tavares, Matthew DC Neville, Mari EK Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F Wright, David R FitzPatrick, Helen V Firth, Matthew E Hurles
Feb 26, 2021
Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of...
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J Carss, Courtney E French, Olivera Spasic-Boskovic, Joanna Jarvis, Michael Field, F Lucy Raymond, Detelina Grozeva
Jul 25, 2019
Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregating variants in X-linked...
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
Nov 21, 2018
OBJECTIVE: To identify the genetic basis of a childhood-onset syndrome of variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. METHODS...
PITML cerebellar atrophy Mitochondria Next generation sequencing Whole exome sequencing Adolescent Age of Onset Arabs Atrophy Cerebellar Diseases cerebellum Child Humans Loss of Function Mutation Male Metalloendopeptidases Mitochondria Mitochondrial Proteins Pedigree Exome Sequencing whole genome sequencing Young Adult
Kh Domains on Brain Polyribosomes: FMRP and Nova in Translational Regulation
Claire Elizabeth Fraser
Jan 01, 0001
The regulation of protein synthesis is an important aspect of the control of gene expression in neurons and is thought to contribute to neurologic diseases such as Fragile X mental retardation syndrome. We demonstrate that...
Published by: Rockefeller University
The Italian family, motherhood and Italianness in New Zealand. The case of the Italian community of Wellington
Adalgisa Giorgio
Sep 09, 2015
Recent studies of the Italian diaspora have examined the role of migrant families in constructing Italian identities. The mother’s role is normally that of reproducing and guarding Italian morality. Different scenarios are also...
Identification of Loss of Specific FMRP-RNA Interactions as a Cause of Fragile X Syndrome
Julie B Zang
Jan 01, 0001
Fragile X Syndrome presents with a clinical picture of moderate to severe mental retardation and behavioral abnormalities including autistic features resulting from the loss of function of a RNA-binding protein, Fragile X mental...
Published by: Rockefeller University
Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.
Hannah Joyce, Louise M Burmeister, Hattie Wright, Lorraine Fleming, James AC Oliver, Cathryn Mellersh
Aug 23, 2021
PURPOSE: Three related male English Cocker Spaniels (ECS) were reported to be congenitally blind. Examination of one of these revealed complete retinal detachment. A presumptive diagnosis of retinal dysplasia (RD) was provided...
The format of children's mental images
This study examined the development and format of children’s mental images. Children (4-, 5-, 6–7-, 8–9-, and 11-year-olds) and adults (N = 282) viewed a map of a fictitious island containing various landmarks and two misleading...
Facilitating the Italian Mafia
Despite structural and operational differences, Italian mafias share an ability to expand and infiltrate global economies whilst remaining rooted within their local territory. They are not only the product of specific...
Comment on Herring et al. The Use of "Retardation" in FRAXA, FMRP, FMR1 and Other Designations. Cells 2022, 11, 1044.
This commentary is written in response to the recent article from Herring et al., discussing the eradication of the offensive term "retardation" from gene nomenclature. We discuss the work of the HUGO (Human Genome Organisation)...
Gastronomic Purism: Immigrant Erasure in the Italian-American Potluck
Jordan Costanza
Jan 01, 0001
Through the lens of the Italian immigration epoch colloquially known as "The Great Arrival," this paper explicates the relationship between the Italian immigrant experience in the U.S. and its corollary of Italian-American...
Published by: Winthrop University
The format of children's mental images
This study examined the development and format of children’s mental images. Children (4-, 5-, 6–7-, 8–9-, and 11-year-olds) and adults (N = 282) viewed a map of a fictitious island containing various landmarks and two misleading...
Facilitating the Italian Mafia
Despite structural and operational differences, Italian mafias share an ability to expand and infiltrate global economies whilst remaining rooted within their local territory. They are not only the product of specific...
Boosting Optical Nanocavity Coupling by Retardation Matching to Dark Modes.
Rohit Chikkaraddy, Junyang Huang, Dean Kos, Eoin Elliott, Marlous Kamp, Chenyang Guo, Jeremy J Baumberg, Bart de Nijs
Feb 17, 2023
Plasmonic nanoantennas can focus light at nanometer length scales providing intense field enhancements. For the tightest optical confinements (0.5-5 nm) achieved in plasmonic gaps, the gap spacing, refractive index, and facet...
Education Policy and mental weakness
Educationalists have been concerned with the labelling and treatment of children with mental health difficulties in the education system in England for some time (Timimi 2002; Rose 2005; Jull 2008, Cole 2015). These concerns...
A water footprint review of Italian wine
Wine constitutes the dominant Italian agricultural product with respect to both production quantity and economic value. Italy is the top wine producer worldwide in terms of volume and the second one below France in terms...
The Italian family, motherhood and Italianness in New Zealand. The case of the Italian community of Wellington
Adalgisa Giorgio
Sep 09, 2015
Recent studies of the Italian diaspora have examined the role of migrant families in constructing Italian identities. The mother’s role is normally that of reproducing and guarding Italian morality. Different scenarios are also...
Education Policy and mental weakness
Educationalists have been concerned with the labelling and treatment of children with mental health difficulties in the education system in England for some time (Timimi 2002; Rose 2005; Jull 2008, Cole 2015). These concerns...
Project MOMO
S. Komossa, D. Grupe, A. Kraus, L. C. Gallo, A. G. Gonzalez, M. L. Parker, M. J. Valtonen, A. R. Hollett, U. Bach, J. L. Gómez, I. Myserlis, S. Ciprini
Jul 28, 2021
Our project MOMO (Multiwavelength observations and modeling of OJ 287) consists of dedicated, dense, long-term flux and spectroscopic monitoring, and deep follow-up observations of the blazar OJ 287 at >13 frequencies from the...
Some reflections on the relevance of <em>mammismo</em> in the Italian diaspora in Wellington
Adalgisa Giorgio
Jul 13, 2015
Using 50 interviews collected in 2013, the article contends that, contrary to the homeland, mammismo is not a phenomenon to be found among the Italian community of Island Bay in Wellington, New Zealand. Although the...
Boosting Optical Nanocavity Coupling by Retardation Matching to Dark Modes.
Rohit Chikkaraddy, Junyang Huang, Dean Kos, Eoin Elliott, Marlous Kamp, Chenyang Guo, Jeremy J Baumberg, Bart de Nijs
Mar 26, 2023
Plasmonic nanoantennas can focus light at nanometer length scales providing intense field enhancements. For the tightest optical confinements (0.5-5 nm) achieved in plasmonic gaps, the gap spacing, refractive index, and facet...
Published by: ACS photonics
A systematic scoping review of community‐based interventions for the prevention of mental ill‐health and the promotion of mental health in older adults in the UK
Caroline Lee, Isla Kuhn, Michael McGrath, Olivia Remes, Andy Cowan, Fiona Duncan, Cleo Baskin, Emily J. Oliver, David P. J. Osborn, Jennifer Dykxhoorn, Eileen Kaner, Kate Walters, James Kirkbride, Shamini Gnani, Louise Lafortune, the NIHR SPHR Public Mental Health Programme
May 20, 2021
Abstract: Background: Mental health concerns in older adults are common, with increasing age‐related risks to physical health, mobility and social isolation. Community‐based approaches are a key focus of public health strategy...
Published by: Health & Social Care in the Community
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