Results 51 to 60 of about 109,973,714 (148)

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 7, Page 451-463, October 2026.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Harnessing Extracellular Vesicles for Precision Diagnostics and Infectious Disease Management: Integrating Host‐ and Pathogen‐Derived Cues

Exploration, Volume 6, Issue 5, October 2026.
This review summarizes the diagnostic and monitoring potential of host‐pathogen extracellular vesicles (hpEVs) in infectious diseases, advances in their isolation and analysis, and challenges to clinical translation. ABSTRACT Conventional infectious disease diagnostics often rely on detecting pathogen‐derived factors or an immune response directed ...
Ming Zhou, Yongchun Pan, Bo Ning, Christopher J. Lyon, Yang Liu, Tony Hu   +5 more
wiley   +1 more source

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

International Journal of Gynecology &Obstetrics, Volume 175, Issue 1, Page 26-47, October 2026.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto, Suvarna S. Khadilkar, Rossella E. Nappi, Andrea R. Genazzani, Federica Frezet, Laura Cucinella, Hema Divakar, Panagiotis Anagnostis, Nick Panay   +8 more
wiley   +1 more source

Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment

Journal of Neurodevelopmental Disorders, 2023
Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cognitive function and in the pathogenesis of fragile X syndrome (FXS).
Joseph M. Palumbo, Brian F. Thomas, Dejan Budimirovic, Steven Siegel, Flora Tassone, Randi Hagerman, Christopher Faulk, Stephen O’Quinn, Terri Sebree   +8 more
doaj   +1 more source

Evaluating Plasma‐Handling Effects on Extracellular Vesicle RNA Yield and Cargo Profiles in Fish: A Methodological Insight

Journal of Extracellular Biology, Volume 5, Issue 10, October 2026.
Experimental Design Overview Illustration to visualize the experimental structure (can be included in a graphical abstract later on)—Diagram / Workflow showing fish plasma collection, sample conditions: (a) volume groups (1 mL vs 2 mL or Midi vs Maxi); (b) Fresh vs frozen EV isolation→RNA extraction→Sequencing pipeline.
Antonio Espuela‐Ortiz, Estrella Antón‐González, Louis Bonnefous, M. Virginia Martín, Salvador Jeréz, Deiene Rodríguez‐Barreto   +5 more
wiley   +1 more source

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report

Case Reports in Genetics
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due
Hasan Hasan, Ellery R. Santos, Seyedeh Ala Mokhtabad Amrei, Flora Tassone, Jamie Leah Randol, Paul Hagerman, Randi J. Hagerman   +6 more
doaj   +1 more source

Overexpression of the autism candidate gene Cyfip1 pathologically enhances olivo-cerebellar signaling in mice

Frontiers in Cellular Neuroscience, 2023
Cyfip1, the gene encoding cytoplasmic FMR1 interacting protein 1, has been of interest as an autism candidate gene for years. A potential role in autism spectrum disorder (ASD) is suggested by its location on human chromosome 15q11-13, an instable region
Silas E. Busch, Dana H. Simmons, Eric Gama, Xiaofei Du, Francesco Longo, Francesco Longo, Christopher M. Gomez, Eric Klann, Christian Hansel   +8 more
doaj   +1 more source

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

, 2023
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to
Melissa Raspa (7534802), Emily Graves Allen (11509864), Reymundo Lozano (4533649), Katharine Shelly (17286910), Dejan B Budimirovic (17286874), Brett Dufour (17286877), Molly Losh (5120810), Federica Alice Maria Montanaro (14654654), Jessica Klusek (11526796), Peter K Todd (17286913), Marsha R Mailick (5822288), Nicola Elvassore (121419), Karen Lipworth (17286892), Ted W Brown (17286871), Deborah A Hall (16054376), Dragana Protic (5777135), Flora Tassone (207299), Robert M Miller (17286898), Veronica Martinez-Cerdeno (17286895), Jessica Ezzell Hunter (11509870), Peng Jin (216301), Abigail Hogan (5120813), Rachel Eiges (216104), R Frank Kooy (17286886), Cecilia Laterza (4821909), Marwa Zafarullah (12527002), Matthew W Mosconi (17286901), Katarzyna Tutak (17286916), Danuta Loesch-Mdzewska (9478565), Jun Yi Wang (2805190), Lidia V Gabis (17286880), Poonnada Jiraanont (12526993), Sarah Nelson Potter (17286904), Samantha J Grudzien (17286883), Apostolos Manolopoulos (6596681), Jonathan Cohen (26835), David Hessl (2805181), Yingratana McLennan (6587582), Susan M Rivera (17286907), Anna Baud (3719770), Alison D Archibald (17286868), Andrea Lee (7519388), Anne Wheeler (14514257), Tri Indah Winarni (3826342), Claudine M Kraan (17286889), Randi J Hagerman (17286919)   +45 more
core   +2 more sources

Synaptic Proteostasis in Health and Disease

Journal of Neurochemistry, Volume 170, Issue 10, October 2026.
The localised creation and degradation of proteins at the pre and postsynaptic terminal are processes that are crucial for neuronal homeostasis. Synaptic proteostasis pathways are frequently reported as dysregulated in neurodevelopmental and neurodegenerative disorders.
Paul G. Donlin‐Asp, Emma L. Clayton
wiley   +1 more source

Fragile X cortex is characterized by decreased parvalbumin-expressing interneurons [PDF]

Fragile X syndrome is a genetic neurodevelopmental disorder caused by a mutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene in the X chromosome.
Martinez-Cerdeño, Veronica, Juarez, Pablo, Dufour, Brett, Salcedo-Arellano, Maria Jimena   +3 more
core   +1 more source