Results 31 to 40 of about 15,002 (209)

Effects of N6-methyladenosine methylation regulators on prognosis and cell biological behaviors of colorectal cancer

陆军军医大学学报, 2022
Objective To investigate the effects of N6-methyladenosine (M6A) related genes on the prognosis and cell biological behaviors of colorectal cancer. Methods The long non-coding RNA (lncRNA) for colorectal cancer and the expression profile data of 21 M6A ...
LIU Ning, JIANG Fan, CHEN Zhiju, WANG Baochun, LYU Yunfu   +4 more
doaj   +1 more source

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation

Stem Cell Reports, 2014
Silencing of the FMR1 gene leads to fragile X syndrome, the most common cause of inherited intellectual disability. To study the epigenetic modifications of the FMR1 gene during silencing in time, we used fibroblasts and induced pluripotent stem cells ...
Celine E.F. de Esch, Mehrnaz Ghazvini, Friedemann Loos, Nune Schelling-Kazaryan, W. Widagdo, Shashini T. Munshi, Erik van der Wal, Hannie Douben, Nilhan Gunhanlar, Steven A. Kushner, W.W.M. Pim Pijnappel, Femke M.S. de Vrij, Niels Geijsen, Joost Gribnau, Rob Willemsen   +14 more
doaj   +1 more source

Molecular Characterisation and Assessment of Clinical Significance of Small Fragile X Alleles [PDF]

Journal of Analytical Research in Clinical Medicine, 2013
BACKGROUND: Fragile X syndrome is a genetic mental retardation syndrome caused by an unstable mutation in thefragile X mental retardation 1 gene (FMR1) on the X chromosome.
Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan   +1 more
doaj   +1 more source

Conservation of CGG region in FMR1 gene in mammals [PDF]

American Journal of Medical Genetics, 1994
AbstractOnly two of the fragile sites found in humans (FRAXA and FRAXE) have been associated with a clinical phenotype. In mentally retarded individuals with cytogenetic expression of FRAXA a CGG repeat in the FMR1 gene is amplified. Fragile sites are found in many animal species.
W, Deelen, C, Bakker, D J, Halley, B A, Oostra   +3 more
openaire   +2 more sources

Alternative splicing in the fragile X gene FMR1 [PDF]

Human Molecular Genetics, 1993
The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known. We have determined additional cDNA sequences both at the 5' and 3' end. We have characterized the expressed gene by means of RT-PCR in various tissues and have found that alternative splicing takes place in the FMR1 gene, which ...
Verkerk Annemieke J M H, De Graaff Esther, De Boulle Kristel, Eichler Evan E, Konecki David S, Reyniers Edwin, Manca Antonella, Poustka Annemarie Marie, Willems Patrick J, Nelson David L, Oostra Ben A   +10 more
openaire   +3 more sources

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

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

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 [PDF]

, 2014
Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID).
Douglas, Evelyn, Metsu Sofie, Reyniers Edwin, Liesbeth Rooms (555530), Chandra Sekhar Reddy Chilamakuri, Martin S. Taylor (257588), Rainger, J., Wilson, David I., Wilson, D., Gecz, J., David R Fitzpatrick, Taylor, Martin S; id_orcid, Kooy, R., David I. Wilson, Kooy, R. Frank, Harris Morrison, Geert Vandeweyer (555532), Thompson Geoffrey, Wilson David I., Evelyn Douglas, Kooy, R Frank, FitzPatrick, D., David R. FitzPatrick (215024), Chilamakuri Chandra Sekhar Reddy, Vandeweyer, Geert, Bengani Hemant, R Frank Kooy, FitzPatrick David R., Eric Haan, R. Frank Kooy, Gecz Jozef, Eric Haan (62063), Jozef Gecz (9483), Edwin Reyniers, Gecz, Jozef, Harris Morrison (34143), Geoffrey Thompson (555535), Thompson, Geoffrey, Vandeweyer, G., Reyniers, Edwin, Haan, E., Rooms Liesbeth, Rooms, Liesbeth, Fitzpatrick, David R, Metsu, Sofie, FitzPatrick, David R., Geert Vandeweyer, Morrison Harris, Jozef Gecz, Taylor Martin S., Taylor, Martin S., Jacqueline Rainger, R. Frank Kooy (555536), Chandra Sekhar Reddy Chilamakuri (523131), Martin S. Taylor, Metsu, S., Evelyn Douglas (555534), Hemant Bengani, Rainger Jacqueline, Bengani, Hemant, Liesbeth Rooms, David R. FitzPatrick, Hemant Bengani (425074), Sofie Metsu (555529), Morrison, Harris, Chilamakuri, C., Kooy R. Frank, Taylor, M., Reyniers, E., Rainger, Jacqueline, Bengani, H., Rooms, L., Thompson, G., Haan Eric, Wilson, David I, David I. Wilson (164352), Martin S Taylor, Haan, Eric, Chilamakuri, Chandra Sekhar Reddy, David I Wilson, Douglas, E., Jacqueline Rainger (555531), Vandeweyer Geert, Edwin Reyniers (555533), Geoffrey Thompson, Sofie Metsu, Douglas Evelyn, Morrison, H.   +87 more
core   +1 more source

Role of CTCF protein in regulating FMR1 locus transcription.

PLoS Genetics, 2013
Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and methylation of a CGG triplet repeat (methylated full mutation). An antisense transcript (FMR1-AS1),
Stella Lanni, Martina Goracci, Loredana Borrelli, Giorgia Mancano, Pietro Chiurazzi, Umberto Moscato, Fabrizio Ferrè, Manuela Helmer-Citterich, Elisabetta Tabolacci, Giovanni Neri   +9 more
doaj   +1 more source

Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing

Stem Cell Research, 2019
Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play ...
Subhajit Giri, Meera Purushottam, Biju Viswanath, Ravi S. Muddashetty   +3 more
doaj   +1 more source