Results 111 to 120 of about 28,384 (213)

Clinical, molecular, and pharmacological aspects of FMR1-related disorders

Neurología (English Edition), 2017
Background: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family.
A. Pugin, V. Faundes, L. Santa María, B. Curotto, S. Aliaga, I. Salas, P. Soto, P. Bravo, M.I. Peña, M.A. Alliende   +9 more
doaj   +1 more source

NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]

, 2010
Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core  

Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. [PDF]

, 2020
BackgroundThe purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (
Abbeduto, Leonard, Banasik, Amy, Bullard, Lauren, Hagerman, Randi, Kim, Kyoungmi, McDuffie, Andrea, Nguyen, Vivian, Potter, Laura A, Potter, Sarah Nelson, Tassone, Flora, Thurman, Angela John   +10 more
core  

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. [PDF]

, 2015
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females ...
Amor, David J, Bui, Quang M, Francis, David, Godler, David E, Hagerman, Randi J, Herlihy, Amy S, Hopper, John L, Inaba, Yoshimi, Li, Xin, Metcalfe, Sylvia A, Schwartz, Charles E, Shi, Elva Z, Skinner, Cindy, Slater, Howard R   +13 more
core   +2 more sources

Welfare Indicators for Aquaculture Research: Toolboxes for Five Farmed European Fish Species

Reviews in Aquaculture, Volume 18, Issue 1, January 2026.
ABSTRACT Refining approaches to measuring, monitoring and appraising animal welfare in aquaculture research is key to (i) protecting and optimizing it, (ii) documenting the severity of how and when it deviates, and (iii) ensuring good scientific quality, reliable results and reproducibility, amongst other factors.
Chris Noble, Wout Abbink, René Alvestad, László Ardó, Marie‐Laure Bégout, Nina Bloecher, Erik Burgerhout, Josep Calduch‐Giner, Mauro Chivite‐Alcalde, Petr Císař, Evan Durland, Åsa M. Espmark, Lynne Falconer, Martin Føre, Dimitra G. Georgopoulou, Karsten Heia, Gaute A. N. Helberg, David Izquierdo Gomez, Lill‐Heidi Johansen, Gunhild Seljehaug Johansson, Kristbjörg Edda Jónsdóttir, Jelena Kolarevic, Aleksei Krasnov, Santhosh K. Kumaran, Bjarne Kvæstad, Thomas Larsson, Carlo C. Lazado, Angelico Madaro, Federico Moroni, Ingrid Måge, Jonatan Nilsson, Samuel Ortega, Nikos Papandroulakis, Jaume Pérez‐Sánchez, Pamela M. Prentice, Sonia Rey Planellas, Bjørn Roth, Adrian Smith, Lars Erik Solberg, Orestis Stavrakidis‐Zachou, Lars Helge Stien, Anja Striberny, Ragnhild Aven Svalheim, Bjørn‐Steinar Sæther, Gerrit Timmerhaus, Hilde Toften, Linda Tschirren, Hans van de Vis, Elisabeth Ytteborg, Lucas A. Zena, Tone‐Kari Knutsdatter Østbye   +50 more
wiley   +1 more source

Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil

Neurología, 2017
Resumen: Introducción: El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia.
A. Pugin, V. Faundes, L. Santa María, B. Curotto, S. Aliaga, I. Salas, P. Soto, P. Bravo, M.I. Peña, M.A. Alliende   +9 more
doaj   +1 more source

Fragile X Syndrome and Targeted Treatments

Journal of Biomedicine and Translational Research, 2020
Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies.
Nattaporn Tassanakijpanich, Ana María Cabal-Herrera, Maria Jimena Salcedo-Arellano, Randi Jenssen Hagerman   +3 more
doaj   +1 more source

ERβ/circAHNAK Axis Inhibits USP10–FMR1 Deubiquitination to Prevent m⁶A‐Mediated ADAM17 Decay and Promote Angiogenesis in Clear Cell Renal Cell Carcinoma

Advanced Science, Volume 12, Issue 48, December 29, 2025.
In clear cell renal cell carcinoma, estrogen receptor β (ERβ) upregulates circAHNAK, which competitively binds USP10 to prevent FMR1 deubiquitination, leading to FMR1 degradation. Loss of FMR1 hinders m⁶A‐dependent decay of ADAM17 mRNA, resulting in ADAM17 accumulation in tumor exosomes and enhanced angiogenesis.
Chao Xu, Sujing Zhang, Yuepeng Liu, Jingwei Lv, Yilong Cao, Yao Chen, Hao Sun, Bowei Zhang, Shengtao Dai, Jiehan Li, Xiaoling Li, Bei Shi, Qingyun Sun, Meng Zhu, Junfei Gu   +14 more
wiley   +1 more source

Voltage-independent SK-channel dysfunction causes neuronal hyperexcitability in the hippocampus of Fmr1 knock-out mice [PDF]

, 2019
Neuronal hyperexcitability is one of the major characteristics of fragile X syndrome (FXS), yet the molecular mechanisms of this critical dysfunction remain poorly understood. Here we report a major role of voltage-independent potassium (
Carlin, Dan, Cavalli, Valeria, Deng, Pan-Yue, Klyachko, Vitaly A, Myrick, Leila K, Oh, Young Mi, Warren, Stephen T   +6 more
core   +1 more source

Purkinje cell-specific Grip1/2 knockout mice show increased repetitive self-grooming and enhanced mGluR5 signaling in cerebellum [PDF]

, 2019
Cerebellar Purkinje cell (PC) loss is a consistent pathological finding in autism. However, neural mechanisms of PC-dysfunction in autism remain poorly characterized.
Chiu, Shu-Ling, Gil Infante, Ana, Huganir, Richard L, Mejías Estévez, Rebeca María, Rose, Rebecca, Wang, Tao, Zhao, Yifan   +6 more
core   +1 more source