Results 101 to 110 of about 2,751,167 (169)

Tissue-specific expression of a FMR1/β-galactosidase fusion gene in transgenic mice [PDF]

, 2017
Fragile X syndrome is one of the most common genetic causes of mental retardation, yet the mechanisms controlling expression of the fragile X mental retardation gene FMR1 are poorly understood.
Schaffner, Walter, Gassmann, Max, Matsuo, Koichi, Lüscher, Bernhard, Aguzzi, Adriano, Hergersberg, Martin, Rülicke, Thomas   +6 more
core  

Persistence of cerebellar ataxia during chronic ethanol exposure is associated with epigenetic up-regulation of Fmr1 gene expression in rat cerebellum. [PDF]

Alcohol Clin Exp Res, 2021
Dulman RS, Auta J, Wandling GM, Patwell R, Zhang H, Pandey SC.   +5 more
europepmc   +1 more source

Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene. [PDF]

Int J Mol Sci, 2021
Fisher PR, Allan CY, Sanislav O, Atkinson A, Ngoei KRW, Kemp BE, Storey E, Loesch DZ, Annesley SJ.   +8 more
europepmc   +1 more source

Compound heterozygosity at the FMR1 gene

, 2001
Individuals affected with Fragile X syndrome are usually characterized at the DNA level by the presence of at least 200 CGG repeats in the 5' untranslated region of the FMR1 gene; this number of repeats is defined as a full mutation.
Hegde, MR, Chong, B, Gilbert, D, Love, DR, McGaughran, J, Fawkner, M, Belinda Chong, Julie McGaughran, Madhuri R. Hegde, Matthew Fawkner, Dale Gilbert, Donald R. Love   +11 more
core   +1 more source

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.

, 2007
Recent advances in our understanding of the clinical and molecular features of the fragile-X mental-retardation 1 gene, FMR1, highlight the importance of single-gene disorders.
Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA   +3 more
core   +1 more source

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions

eNeurologicalSci
Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder affecting carriers of a premutation in the FMR1 gene involving expansion of CGG repeats. We present the case of a 66-year-old man with fragile X-associated tremor/ataxia syndrome
Kunihiko Ishizawa, Kentaro Hashimoto, Hironori Oka, Takashi Sugawara, Masakuni Amari, Takeshi Kawarabayashi, Koichi Okamoto, Chisato Tamai, Jun Sone, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +11 more
doaj   +1 more source

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review. [PDF]

Genes (Basel), 2022
Gómez-Rodríguez MJ, Morales-Conejo M, Arteche-López A, Sánchez-Calvín MT, Quesada-Espinosa JF, Gómez-Manjón I, Palma-Milla C, Lezana-Rosales JM, Pérez de la Fuente R, Martin-Ramos ML, Fernández-Guijarro M, Moreno-García M, Alvarez-Mora MI.   +12 more
europepmc   +1 more source

Increased threshold for spike-timing-dependent plasticity is caused by unreliable calcium signaling in mice lacking fragile X gene FMR1

, 2007
SummaryFragile X syndrome, caused by a mutation in the Fmr1 gene, is characterized by mental retardation. Several studies reported the absence of long-term potentiation (LTP) at neocortical synapses in Fmr1 knockout (FMR1-KO) mice, but underlying ...
Burnashev, N., Mansvelder, H.D.; id_orcid, Holmgren, C.D., Meredith, R.M., Weidum, M.   +4 more
core   +1 more source

A nonsense mutation in FMR1 causing fragile X syndrome

, 2010
Fragile X syndrome is a common cause of inherited intellectual disability. It is caused by lack of the FMR1 gene product FMRP. The most frequent cause is the expansion of a CGG repeat located in the 5'UTR of FMR1.
Brøndum-Nielsen, Karen, Dedic, Alma, Grønskov, Karen, Alma Dedic, Hjalgrim, Helle, Karen Grønskov, Helle Hjalgrim, Gronskov, Karen, Karen Brøndum-Nielsen   +8 more
core   +1 more source

FMR1 Disorders: Basics of Biology and Therapeutics in Development

Cells
Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed
Drew A. Gillett, Helene Tigro, Yuan Wang, Zucai Suo   +3 more
doaj   +1 more source