Results 41 to 50 of about 18,012 (216)

A sound-driven cortical phase-locking change in the Fmr1 KO mouse requires Fmr1 deletion in a subpopulation of brainstem neurons

Neurobiology of Disease, 2022
Background: Sensory impairments commonly occur in patients with autism or intellectual disability. Fragile X syndrome (FXS) is one form of intellectual disability that is often comorbid with autism.
Andrew J. Holley, Aleya Shedd, Anna Boggs, Jonathan Lovelace, Craig Erickson, Christina Gross, Miranda Jankovic, Khaleel Razak, Kimberly Huber, Jay R. Gibson   +9 more
doaj   +1 more source

STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]

, 2010
Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
core  

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]

, 2008
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
core  

Expression levels of Fmr1 and FMRP in Fmr1^CRE.

, 2021
Frontal (A) and saggital (B) views of 13.5GD embryonic mouse heads following whole-mount in situ hybridization for Fmr1. In each panel the wild-type male embryo is shown on the left and the Fmr1CRE embryo on the right. There is loss of expression of Fmr1
James G. Prendergast (8038910), Olivera Spasic-Boskovic (6881501), Emily Osterweil (11273475), Hugues Roest Crollius (11273478), Adam Jackson (6637928), Liusaidh J. Owen (11273463), Graeme Grimes (11273466), Catherine M. Abbott (11273472), Lambert Moyon (11273460), Veronica van Heyningen (57737), F. Lucy Raymond (6062462), David R. FitzPatrick (11273481), Susana R. Louros (5743778), Jilly Hope (113496), Laura C. Murphy (11273469), Hemant Bengani (425074), Detelina Grozeva (4799844), Jacqueline Rainger (555531), Peter Kind (239748), Magali Naville (668692), Shipra Bhatia (276505), Mihail Halachev (6444560)   +21 more
core   +1 more source

Endogenous Engineering Reprograms Extracellular Vesicles for Enhanced Therapeutic Function

Advanced Science, EarlyView.
This review explains how Extracellular vesicles‐producing cells can be endogenously engineered to load therapeutic proteins and nucleic acids. We summarize physiological and genetic strategies that harness native sorting pathways for selective cargo loading.
Jinghui Wang, Wenxuan Zhao, Xiaoming Hu, Yishu Wang, Peidong Yang, Diwei Zheng, Yugang Wang, Guanghui Ma, Min Shi, Wei Wei, Shuang Wang   +10 more
wiley   +1 more source

Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.

PLoS Genetics, 2010
Fragile X Tremor Ataxia Syndrome (FXTAS) is a common inherited neurodegenerative disorder caused by expansion of a CGG trinucleotide repeat in the 5'UTR of the fragile X syndrome (FXS) gene, FMR1.
Peter K Todd, Seok Yoon Oh, Amy Krans, Udai B Pandey, Nicholas A Di Prospero, Kyung-Tai Min, J Paul Taylor, Henry L Paulson   +7 more
doaj   +1 more source

Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency

Acta Médica Portuguesa, 2021
Introduction: Chromosome abnormalities contribute to about 10% of cases of premature ovarian insufficiency. Most are associated with X chromosome. Fragile mental retardation 1 (FMR1) gene premutation has an estimated prevalence of 1% - 7% in sporadic ...
Ana Raquel Neves, Ana Sofia Pais, Susana Isabel Ferreira, Vera Ramos, Maria João Carvalho, Alexandra Estevinho, Eunice Matoso, Fernanda Geraldes, Isabel Marques Carreira, Fernanda Águas   +9 more
doaj   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Utilizing FMR1 gene mutations as predictors of treatment success in human in vitro fertilization.

PLoS ONE, 2014
ContextMutations of the fragile X mental retardation 1 (FMR1) gene are associated with distinct ovarian aging patterns.ObjectiveTo confirm in human in vitro fertilization (IVF) that FMR1 affects outcomes, and to determine whether this reflects ...
Vitaly A Kushnir, Yao Yu, David H Barad, Andrea Weghofer, Eric Himaya, Ho-Joon Lee, Yan-Guang Wu, Aya Shohat-Tal, Emanuela Lazzaroni-Tealdi, Norbert Gleicher   +9 more
doaj   +1 more source