• Thumbnail for Fragile X syndrome
    A, et al. (May 2014). "A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response". Cell. 157 (4): 869–881...
    59 KB (6,782 words) - 23:15, 24 October 2024
  • duplication syndrome Mental retardation and microcephaly with pontine and cerebellar hypoplasia X-linked alpha thalassemia mental retardation syndrome Following...
    18 KB (1,927 words) - 16:56, 28 July 2024
  • Thumbnail for FMR1
    (Fragile X Messenger Ribonucleoprotein 1) is a human gene that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. This protein...
    27 KB (3,455 words) - 12:19, 13 May 2024
  • Thumbnail for Intellectual disability
    general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), is a generalized neurodevelopmental disorder...
    99 KB (10,890 words) - 08:21, 31 October 2024
  • Thumbnail for AFF2
    gene are associated with X-linked intellectual disability and specifically a syndrome known as Fragile XE mental retardation (FRAXE). FRAXE is one of...
    9 KB (1,210 words) - 12:53, 29 July 2023
  • Thumbnail for Fragile X-associated tremor/ataxia syndrome
    in Fragile X "premutation" carriers, which is defined as a trinucleotide repeat expansion of 55-200 CGG repeats in the Fragile X mental retardation-1 (FMR1)...
    12 KB (1,303 words) - 12:29, 24 September 2022
  • 2004). "Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway". Nature Neuroscience. 7 (2): 113–117...
    33 KB (2,388 words) - 13:29, 4 January 2024
  • Thumbnail for Lujan–Fryns syndrome
    0.CO;2-1. ISSN 0148-7299. PMID 10508979. Buggenhout, G. V.; Fryns, J. -P. (July 2006). "Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid...
    40 KB (4,178 words) - 03:02, 17 September 2024
  • Thumbnail for FXR2
    Fragile X mental retardation syndrome-related protein 2 is a protein that in humans is encoded by the FXR2 gene. The protein encoded by this gene is an...
    10 KB (1,344 words) - 09:04, 5 January 2024
  • Agrin Chimerin Proteins Chromogranins Dopamine and cAMP-Regulated Phosphoprotein 32 Fragile X Mental Retardation Protein GAP-43 Protein Glucose Transporter...
    8 KB (1,063 words) - 16:59, 20 October 2024
  • demonstrated this relationship. In 1991, for fragile X syndrome, the fragile X mental retardation 1 (FMR-1) gene was found to contain a CGG expansion in...
    61 KB (7,973 words) - 11:50, 13 September 2024
  • Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is...
    18 KB (2,203 words) - 15:12, 27 October 2023
  • Thumbnail for Sex hormone-binding globulin
    ATP1B2, and fragile X mental retardation, autosomal homolog 2 (FXR2) on the complementary strand. There are eight exons, of which exon 1 has three variations...
    57 KB (4,584 words) - 22:43, 2 August 2024
  • intellectual disability associated with decreased levels of Fragile X Mental Retardation 1 gene protein (FMRP), but in the pre-mutation or carrier state. FMRP...
    18 KB (1,858 words) - 03:18, 6 June 2024
  • Charcot–Marie–Tooth disease deafness mental retardation Charcot–Marie–Tooth disease deafness recessive type Charcot–Marie–Tooth disease type 1 aplasia cutis congenita...
    40 KB (3,657 words) - 03:02, 17 August 2024
  • Thumbnail for Renpenning's syndrome
    Renpenning's syndrome (category X-linked recessive disorders)
    is associated with microphthalmia, microcephaly, and mental retardation". Eur. J. Hum. Genet. 15 (1): 29–34. doi:10.1038/sj.ejhg.5201717. PMID 17033686...
    3 KB (339 words) - 08:38, 18 August 2023
  • (2006) Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression. Neuron 51:...
    9 KB (1,310 words) - 14:21, 12 October 2023
  • 2C2; Fmr1/Fxr, D. melanogaster orthologue of the fragile-X mental retardation protein; miRNP, miRNA-protein complex; NR, not reported; Tsn, Tudor-staphylococcal...
    36 KB (3,844 words) - 04:25, 29 October 2024
  • Dutra, A.; Nussbaum, R. L.; Dreyfuss, G. (1995). "The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2". The EMBO...
    13 KB (1,130 words) - 08:19, 20 November 2023
  • Thumbnail for KIAA1704
    KIAA1704 (section Protein)
    RNA Polymerase II. Negative Orientation Nuclear Fragile X Mental Retardation Protein Interacting Protein 1 (NUFIp1) shows RNA-binding activity with specific...
    14 KB (1,138 words) - 05:02, 10 March 2024
  • Thumbnail for Jean-Louis Mandel
    (2002). Schaeffer, C, Bardoni, B, Mandel, J.-L., et al. The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif...
    15 KB (1,981 words) - 21:02, 28 January 2024
  • INPP5E Mental retardation, X-linked 1; 309530; IQSEC2 Mental retardation, X-linked 17/31, microduplication; 300705; HSD17B10 Mental retardation, X-linked...
    234 KB (18,877 words) - 15:43, 9 May 2024
  • Thumbnail for Bantam microRNA
    (ed.). "The bantam microRNA is associated with drosophila fragile X mental retardation protein and regulates the fate of germline stem cells". PLOS Genet...
    6 KB (559 words) - 21:18, 17 February 2024
  • Thumbnail for CNTNAP2
    autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila". American Journal of Human...
    11 KB (1,355 words) - 23:40, 23 October 2024
  • Thumbnail for NUFIP1
    Nuclear fragile X mental retardation-interacting protein 1 is a protein that in humans is encoded by the NUFIP1 gene. NUFIP1 has been shown to interact...
    4 KB (544 words) - 11:26, 15 January 2024
  • interactions are believed to cause the disease's symptoms. Epilepsy with Mental Retardation limited to Females (EFMR) is its own syndrome, primarily affecting...
    33 KB (4,100 words) - 02:11, 22 October 2024
  • Thumbnail for Aspartylglucosaminuria
    Retrieved 2013-04-05. Viitapohja, Kari. "Mental Retardation in Finland". Finnish Information Center on Mental Retardation. Archived from the original on 2011-06-06...
    10 KB (999 words) - 15:05, 18 October 2024
  • Thumbnail for DEFA1
    DEFA1 (redirect from Defensin, alpha 1)
    CA, Eberhart DE, Yi H, Warren ST, Hersch SM (Mar 1997). "Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic...
    10 KB (1,229 words) - 02:47, 17 October 2022
  • Thumbnail for Stress granule
    Kim SH, Dong WK, Weiler IJ, Greenough WT (March 2006). "Fragile X mental retardation protein shifts between polyribosomes and stress granules after neuronal...
    183 KB (12,460 words) - 13:46, 23 September 2024
  • Thumbnail for G-quadruplex
    binding proteins, as seen in the fragile X mental retardation gene 1 (FMR1) gene and Fragile X Syndrome. The C9orf72 gene codes for the protein C9orf72...
    94 KB (11,911 words) - 03:22, 31 October 2024