Results 101 to 110 of about 19,944 (229)
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 +5 more
doaj +1 more source
Additional file 1 of Tau reduction attenuates autism-like features in Fmr1 knockout mice
, 2023 Additional file 1: Supplementary figures. Fig. S1. Tau reduction prevents autism-like behaviors in Fmr1−/y mice independent of the PI3K/Akt/mTOR pathway. Fig. S2. P38 and ERK signaling are altered in the cortex of Fmr1 KO mice with FVB background.
Xian Zhang (191440) +9 more
core +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2068-2077, October 2026.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
, 2006 X 染色體脆折症是引起遺傳性智能不足的 主要原因之一，在X 染色體脆折症患者， FMR1 基因內的CGG 重覆序列長度會增加， 並引起基因的甲基化。FMR1 基因的篩選雖 然解釋了X 染色體脆折症特殊的遺傳模 式，但是FMR1 的功能至今仍不清楚。 在我們過去的研究中，我們證實甲基 化是FMR1 基因表現抑制的直接原因 。我們進一步 分析FMR1 啟動子的構造，並發現FMR1 啟 動子中有一段序列(MSE)可以被cAMP 活化 。 然而過去我們想看細胞株內部FMR1表現變 ...
楊千立
core
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.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 +123 more
wiley +1 more source
Novel FMR1 sequence variants identified in FXS-like males.
, 2013 Novel FMR1 sequence variants identified in FXS-like males.
Elizabeth Berry-Kravis (366556) +9 more
core +1 more source
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 +4 more
wiley +1 more source
PLoS ONE, 2012 BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries
Andrea Weghofer +6 more
doaj +1 more source
Unstable Mutations in the FMR1 Gene and the Phenotypes [PDF]
, 2012 Fragile X syndrome (FXS), a severe neurodevelopmental anomaly, and one of the earliest disorders linked to an unstable ('dynamic') mutation, is caused by the large (>200) CGG repeat expansions in the noncoding portion of the FMR1 (Fragile X Mental Retardation-1) gene.
Danuta, Loesch, Randi, Hagerman
openaire +2 more sources
Cancer Medicine, Volume 15, Issue 10, October 2026.ABSTRACT Background Accurate detection of estrogen and progesterone receptors (ER/PR), HER2, and Ki‐67 is essential for molecular classification of breast cancer and in deciding upon tailored treatment. In many low‐ and middle‐income countries (LMICs), access to histopathology and immunohistochemistry (IHC) is limited.
Partha Basu +15 more
wiley +1 more source