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Literature DB >> 16010677

Fragile X syndrome.

Alessandra Terracciano¹, Pietro Chiurazzi, Giovanni Neri.

Abstract

Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess growth. This review highlights the most recent advances in the field of fragile X research. Copyright 2005 Wiley-Liss, Inc.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2005 PMID： 16010677 DOI： 10.1002/ajmg.c.30062

Source DB: PubMed Journal: Am J Med Genet C Semin Med Genet ISSN： 1552-4868 Impact factor: 3.908

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Cited

25 in total

1. Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization.

Authors: Hansen Wang; Susan S Kim; Min Zhuo
Journal: J Biol Chem Date: 2010-05-10 Impact factor: 5.157

Review 2. Approach to the Diagnosis of Overgrowth Syndromes.

Authors: Mohnish Suri
Journal: Indian J Pediatr Date: 2015-12-18 Impact factor: 1.967

3. Depression in women with spontaneous 46, XX primary ovarian insufficiency.

Authors: Peter J Schmidt; Jamie A Luff; Nazli A Haq; Vien H Vanderhoof; Deloris E Koziol; Karim A Calis; David R Rubinow; Lawrence M Nelson
Journal: J Clin Endocrinol Metab Date: 2010-11-03 Impact factor: 5.958

4. A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.

Authors: Anja Naumann; Norbert Hochstein; Stefanie Weber; Ellen Fanning; Walter Doerfler
Journal: Am J Hum Genet Date: 2009-10-22 Impact factor: 11.025

5. Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1.

Authors: Bruna P Brylawski; Paul D Chastain; Stephanie M Cohen; Marila Cordeiro-Stone; David G Kaufman
Journal: Exp Mol Pathol Date: 2006-12-28 Impact factor: 3.362

Review 6. Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.

Authors: Christopher A Chapleau; Jane Lane; Lucas Pozzo-Miller; Alan K Percy
Journal: Curr Clin Pharmacol Date: 2013-11

Fragile X syndrome.

1. Roles of fragile X mental retardation protein in dopaminergic stimulation-induced synapse-associated protein synthesis and subsequent alpha-amino-3-hydroxyl-5-methyl-4-isoxazole-4-propionate (AMPA) receptor internalization.

Review 2. Approach to the Diagnosis of Overgrowth Syndromes.

3. Depression in women with spontaneous 46, XX primary ovarian insufficiency.

4. A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.

5. Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1.

Review 6. Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives.

Review 7. Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.

Review 8. Translation regulation of mRNAs by the fragile X family of proteins through the microRNA pathway.

9. Transcription factor FIGLA is mutated in patients with premature ovarian failure.

10. Whole genome microarray analysis of gene expression in subjects with fragile X syndrome.