Results 121 to 130 of about 19,944 (229)

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

Negative Effects of Chronic Rapamycin Treatment on Behavior in a Mouse Model of Fragile X Syndrome

Frontiers in Molecular Neuroscience, 2018
Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is also highly associated with autism spectrum disorders (ASD). It is caused by expansion of a CGG repeat sequence on the X chromosome resulting in silencing of the FMR1
Rachel M. Saré, Alex Song, Inna Loutaev, Anna Cook, Isabella Maita, Abigail Lemons, Carrie Sheeler, Carolyn B. Smith   +7 more
doaj   +1 more source

Avaliação de pré-mutação por PCR na síndrome do X frágil [PDF]

, 2006
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química.A presente dissertação avalia o desempenho de uma nova metodologia de análise molecular pela reação em cadeia da ...
Queiroz, Mariana Arzua de
core  

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations [PDF]

, 2002
The Fragile X mental retardation ′gene (FMR1) contains a polymorphic trinucleotide CGG repeat in the 5 untranslated region (UTR) of the FMR1 messenger.
Amaldi, F., Tassone, F., Bagni, C, Primerano, B., Hagerman, P, Hagerman, RJ, PAUL HAGERMAN, AMALDI, FRANCESCO, CLAUDIA BAGNI, FLORA TASSONE, Amaldi, F, Hagerman, P., FRANCESCO AMALDI, RANDI J. HAGERMAN, Tassone, F, BEATRICE PRIMERANO, Hagerman, R.J., Bagni, Claudia, Primerano, B   +18 more
core   +1 more source

Carbon Quantum Dots: From Mechanisms to Biomedical Applications

MedComm, Volume 7, Issue 10, October 2026.
Carbon quantum dots (CQDs) are promising carbon‐based nanomaterials with broad biomedical applications, including bioimaging, drug delivery, biosensing, and tissue regeneration. This Review summarizes the biological mechanisms of CQDs in tissue regeneration, focusing on their regulation of cellular functions, immune responses, and redox balance.
Bingxin Fan, Nianqiang Jin, Nuo Jin, Jiayu Shen, Xinliang Duan, Sichen Han, Yao Yuan, Zilin Wang   +7 more
wiley   +1 more source

Unraveling in vitro phase separation and aggregation properties of the structured region of FMRP and the impact of Fragile X syndrome‐linked mutations

The FEBS Journal, Volume 293, Issue 20, Page 6155-6175, October 2026.
Fragile X messenger ribonucleoprotein 1 (FMRP) is a multidomain RNA‐binding protein associated with Fragile X Syndrome (FXS). We found that its N‐terminal structured region has an intrinsic propensity to undergo liquid–liquid phase separation and fibril formation. FXS‐associated mutations perturb protein stability and aggregation propensity, suggesting
Flavia Catalano, Alessandra Bigi, Francesca Troilo, Federica Gabriele, Gianluca Pistoia, Italia A. Asteriti, Francesco Angelucci, Giorgio Giardina, Fabrizio Chiti, Carlo Travaglini‐Allocatelli, Adele Di Matteo   +10 more
wiley   +1 more source

CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons

Cell Reports
Summary: The human genome has many short tandem repeats, yet the normal functions of these repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene contains polymorphic CGG repeats, the length of ...
Carissa L. Sirois, Yu Guo, Meng Li, Natalie E. Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M.M. Sousa, Anita Bhattacharyya, Xinyu Zhao   +11 more
doaj   +1 more source

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

Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression.

PLoS ONE
Fragile X Syndrome (FXS) is a genetic disorder caused by increased CGG repeats in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene which encodes an RNA-binding protein that can alter mRNA processing, translation and stability. Among the effects of
Xiaoning Zhao, Jianchang Zhou, Kuang-Yuh Chyu, Ebru Erbay, Bojan Cercek, Prediman K Shah, Paul C Dimayuga   +6 more
doaj   +1 more source

Alternative splicing of the FMR1 gene in human tissues of fetal and adult

, 1999
To study the time- and tissue-specificity of alternative splicing of the FMR1 gene, we analyzed the alternative splicing pattern of the FMR1 gene in human tissues from adult and fetus using RT-PCR coupled with capillary electrophoresis. Seven alternative
Li, LY, Zhu, NN, Liu, EL, Shen, Y, Kan, D, Xu, Q, Fan, Y, Han, FT, Wu, GY, Lin, BC   +9 more
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