Results 121 to 130 of about 15,002 (209)

Fragile X mental retardation 1 gene FMR1 promotes proliferation, migration, and invasion of gastric cancer cells via c-MYC

Journal of Translational Medicine
Background Gastric cancer is a highly aggressive malignancy with poor prognosis and low survival rates. The Fragile X Mental Retardation 1 (FMR1) gene has been implicated in the development and progression of various tumors, but its role in gastric ...
Yiqian Han, Chenxi Mao, Kangjie Zhou, Mingtong Liang, Luming Zhao, Yidong Hong, Jingzhou Zhang, Nan Hu, Fenglei Wu   +8 more
doaj   +1 more source

Single-Nucleotide Mutations in Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP

Journal of Experimental Neuroscience, 2015
Fragile X syndrome is a monogenic disorder and a common cause of intellectual disability. Despite nearly 25 years of research on FMR1, the gene underlying the syndrome, very few pathological mutations other than the typical CGG-repeat expansion have been
Joshua A. Suhl, Stephen T. Warren
doaj   +1 more source

Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene. [PDF]

Cureus, 2021
Vafaeie F, Alerasool M, Kaseb Mojaver N, Mojarrad M.   +3 more
europepmc   +1 more source

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

Mental status of females with an FMR1 gene full mutation.

American journal of human genetics, 1996
The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a considerable proportion of the female carriers of a full mutation of the FMR1 gene is affected.
Vries, B.B. de, Wiegers, A.M., Smits, A.P.T., Mohkamsing, S., Duivenvoorden, H.J., Fryns, J.P., Curfs, L.M.G, Halley, D.J., Oostra, B.A., Ouweland, A.M.W. van den, Niermeijer, M.F.   +10 more
openaire   +2 more sources

Comparative analysis of DNA methylation in transgenic mice with unstable CGG repeats from FMR1 gene

, 2010
Methylation of CpG sequences in and around CGG triplet repeats in FMR1 gene has strong correlation with manifestation of the fragile X syndrome in human patients.
Majumdar, Subeer S., Brahmachari, Vani, Datta, Sonal, Mehta, Abhishek K., Alam, Mohammad Parwez, Gulati, Neerja, Baskaran, Sujatha   +6 more
core   +1 more source

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development

, 2011
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegenerative disorder caused by a premutation CGG-trinucleotide repeat expansion (55-200 CGG repeats) within the 5'-untranslated region of the FMR1 gene.
Noctor, SC, Cerdeno, VM, Porras, EN, Prakash, AN, Berman, RF, Angelastro, JM, Cunningham, CL, Willemsen, Rob, Hagerman, PJ, Pessah, IN   +9 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

Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Fmr1) gene mutation. [PDF]

Front Endocrinol (Lausanne), 2023
Villa PA, Lainez NM, Jonak CR, Berlin SC, Ethell IM, Coss D.   +5 more
europepmc   +1 more source