Results 101 to 110 of about 26,254 (239)

Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non‐Regressive Autism: A Cross‐Sectional Study

Autism Research, Volume 18, Issue 6, Page 1290-1300, June 2025.
ABSTRACT Development among autistic youth varies widely. A subgroup of children experiences regression, defined as the loss of previously acquired developmental skills. Various genetic and environmental factors have been suggested as potential contributors.
Seyed Hassan Tonekaboni, Alana Iaboni, Brett Trost, Miriam Reuter, Zsuzsa Lindenmaier, Azadeh Kushki, Elizabeth Kelley, Jessica Jones, Muhammed Ayub, Stelios Georgiades, Robert Nicolson, Elim Chan, Andrada Cretu, Jessica Brian, Evdokia Anagnostou   +14 more
wiley   +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  

FLOT1 Is a Novel Serum Biomarker of Ovarian Cancer Targeted by N6‐methyladenosine Modification Inhibition

Cell Biology International, Volume 49, Issue 6, Page 674-691, June 2025.
ABSTRACT Ovarian cancer (OC) is a deadly disease and lacks a precise marker for diagnosis worldwide. Our previous work has shown the overexpression of flotillin‐1 (FLOT1) in OC tissue. To improve diagnostic sensitivity and accuracy, we evaluated the serum level of FLOT1 in OC patients and found that the serum concentration of FLOT1 as well as CA125 was
Bin Guan, Qi Lu, Junyu Chen, Jingyi Fang, Zhenyu Liu, Wei Li, Lingyun Zhang, Guoxiong Xu   +7 more
wiley   +1 more source

Gene therapy using human FMRP isoforms driven by the human FMR1 promoter rescues fragile X syndrome mouse deficits

Molecular Therapy: Methods & Clinical Development, 2022
Fragile X syndrome (FXS) is caused by the loss of the fragile X messenger ribonucleoprotein 1 (FMRP) encoded by the FMR1 gene. Gene therapy using adeno-associated virus (AAV) to restore FMRP expression is a promising therapeutic strategy. However, so far
Yiru Jiang, Linkun Han, Jian Meng, Zijie Wang, Yunqiang Zhou, Huilong Yuan, Hui Xu, Xian Zhang, Yingjun Zhao, Jinsheng Lu, Huaxi Xu, Chen Zhang, Yun-wu Zhang   +12 more
doaj  

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  

Resilience to audiogenic seizures is associated with p-ERK1/2 dephosphorylation in the subiculum of Fmr1 knockout mice

Frontiers in Cellular Neuroscience, 2013
Young, but not adult, Fmr1 knockout (KO) mice display audiogenic seizures (AGS) that can be prevented by inhibiting extracellular signal-regulated kinases 1/2 (ERK1/2) phosphorylation. In order to identify the cerebral regions involved in these phenomena,
Giulia eCuria, Fabio eGualtieri, Fabio eGualtieri, Regina eBartolomeo, Riccardo eVezzali, Giuseppe eBiagini   +5 more
doaj   +1 more source

Mouse models of fragile X-related disorders

Disease Models & Mechanisms, 2023
Rob Willemsen, R. Frank Kooy
doaj   +1 more source

Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency

Reproductive and Developmental Medicine, 2017
Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1 (FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency (POI) using a rapid and cost-effective method.
Qing Chen, Qi-Qi Wang, Bao-Zhu Cai, Xiao-Jun Ren, Feng Zhang, Xiao-Jin Zhang   +5 more
doaj   +1 more source

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  

Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
doaj   +1 more source