Results 141 to 150 of about 26,254 (239)

AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations [PDF]

, 2004
Cláudia B. Angeli, Leonardo Pires Capelli, Maria Teresa B.M. Auricchio, Angela Maria Vianna‐Morgante, Regina Célia Mingroni‐Netto, E R Leal-Mesquita, Ândrea Ribeiro‐dos‐Santos, Íris Ferrari, Silviene Fabiana de Oliveira, Maria de Nazaré Klautau‐Guimarães   +9 more
openalex   +1 more source

Tissue and developmental regulation of fragile X mental retardation 1 exon 12 and 15 isoforms

Neurobiology of Disease, 2009
The pre-mRNA of the fragile X mental retardation 1 gene (FMR1) is subject to exon skipping and alternative splice site selection, which can generate up to 12 isoforms. The expression and function of these variants in vivo has not yet been fully explored.
Wen Xie, Natalia Dolzhanskaya, Giuseppe LaFauci, Carl Dobkin, Robert B. Denman   +4 more
doaj  

Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation [PDF]

, 2004
Randi J. Hagerman, Blair R. Leavitt, F. Farzin, Sébastien Jacquemont, Claudia Greco, James A. Brunberg, Flora Tassone, David Hessl, Susan Harris, Li Zhang, Tristan Jardini, Louise W. Gane, Jessica Ferranti, L. Ruiz, Maureen A. Leehey, Jim Grigsby, Paul J. Hagerman   +16 more
openalex   +1 more source

CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons

Cell Reports
Summary: The human genome has many short tandem repeats, yet the normal functions of these repeats are unclear. The 5′ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene contains polymorphic CGG repeats, the length of ...
Carissa L. Sirois, Yu Guo, Meng Li, Natalie E. Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M.M. Sousa, Anita Bhattacharyya, Xinyu Zhao   +11 more
doaj  

Postadolescent Changes in Regional Cerebral Protein Synthesis: AnIn VivoStudy in theFmr1Null Mouse [PDF]

, 2005
Mei Qin, Julia Kang, Thomas V Burlin, Chunhui Jiang, Carolyn Beebe Smith   +4 more
openalex   +1 more source

Altered auditory feature discrimination in a rat model of Fragile X Syndrome. [PDF]

PLoS Biol
Gauthier DW, James N, Auerbach BD.
europepmc   +1 more source

(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features

, 2000
Andrea Peier
openalex   +1 more source

Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers [PDF]

, 2005
Sarah Ennis, Daniel Ward, Anna Murray
openalex   +1 more source

The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility. [PDF]

Front Endocrinol (Lausanne)
Xuanyou Z, Naixin X, Xianling C, Weihui S, Shuyuan L, Songchang C, Chenming X.   +6 more
europepmc   +1 more source

Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population [PDF]

, 2005
Leonardo Pires Capelli, Regina Célia Mingroni‐Netto, Angela Maria Vianna‐Morgante   +2 more
openalex   +1 more source