Genetic effects on human cognition: Lessons from the study of mental retardation syndromes

Journal of Neurology Neurosurgery and Psychiatry

Volumn 72, Issue 3, 2002, Pages 287-296

  Nokelainen, P ^a   Flint, J ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; INTEGRIN; MITOGEN ACTIVATED PROTEIN KINASE; RAB PROTEIN; RHO FACTOR; SMALL NUCLEOLAR RNA;

COGNITION; FRAGILE X SYNDROME; GENE MUTATION; HUMAN; INTRACELLULAR TRANSPORT; MENTAL RETARDATION MALFORMATION SYNDROME; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RETT SYNDROME; REVIEW; SIGNAL TRANSDUCTION; TRANSCRIPTION REGULATION;

BRAIN; COGNITION DISORDERS; HUMANS; MENTAL RETARDATION; MUTATION; SYNDROME;

EID: 0036185526     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.72.3.287     Document Type: Review

References (122)

1. Behavioral phenotypes of inbred mouse strains: Implications and recommendations for molecular studies
2. Expression of Drosophila mushroom body mutations in alternative genetic backgrounds: A case study of the mushroom body miniature gene (mbm)
3. Genetic factors contributing to learning and language delays and disabilities
4. Genetics, environment and cognitive abilities: Review and work in progress towards a genome scan for quantitative trait locus associations using DNA pooling
5. Autism: Recent molecular genetic advances
6. Developmental dyslexia: An update on genes, brains, and environments
7. The tetraspanin superfamily: Molecular facilitators
8. Integrin-mediated short-term memory in Drosophila
9. Integrins: A role for adhesion molecules in olfactory memory
10. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
11. The essential role of hippocampal CA1 NMDA receptor-dependent synaptic plasticity in spatial memory
12. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
13. Regulation of G-protein-coupled receptor kinase subtypes by calcium sensor proteins
14. Cellular and subcellular distribution of the calcium-binding protein NCS-1 in the central nervous system of the rat
15. Rho GTPases and signalling networks
16. Rho GTPases
17. Rho GTPases and the actin cytoskeleton
18. Differential effects of the Rac GTPase on Purkinje cell axons and dendritic trunks and spines
19. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
20. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
21. PAK3 mutation in nonsyndromic X-linked mental retardation
22. Human p21-activated kinase (Pak1) regulates actin organization in mammalian cells
23. Mutations in GDI1 are responsible for X-linked non-specific mental retardation
24. Rho, Rac, and Cdc42 GTPases regulate the assembly of multimolecular focal complexes associated with actin stress fibres, lamellipoia and filopodia
25. Regulation of dendriic growth and remodelling by Rho, Rac and Cdc42
26. The synaptic vesicle cycle: A cascade of protein-protein interactions
27. The role of Rab3A in neurotransmitter release
28. Neurofibromatosis type 1
29. Cognitive impairment in neurofibromatosis type 1
30. Structural analysis of the GAP-related domain from neurofibromin and its implications
31. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1
32. Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene
33. Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22
34. Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis
35. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
36. Coffin-Lowry syndrome: Current status
37. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
38. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
39. Coupling of the RAS-MAPK pathway to gene activation by RSK2, a grawth factor-regulated CREB kinase
40. FMR1 gene and fragile X syndrome
41. FMRP expression as a potential prognostic indicator in fragile X syndrome
42. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family
43. Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome
44. Mental status of females with an FMR1 gene full mutation
45. Fragile X genotype characterized by an unstable region of DNA
46. Absence of expression of the FMR-1 gene in fragile X syndrome
47. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
48. Instability of a 550 base pair DNA segment and abnormal methylation in fragile X-syndrome
49. The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals
50. FMRP is associated to the ribosomes via RNA
51. Fmr 1 knockout mice: A model to study fragile X mental retardation
52. FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association
53. Fragile X mental retardation protein: Nucleocytoplasmic shuttling and association with somatodendritic ribosomes
54. The Fragile X mental retardation protein is associated with ribosomes
55. Dendritic integration and its role in computing image velocity
56. A requirement for local protein synthesis in neurotrophin-induced hippocampal synaptic plasticity
57. mRNA trafficking and local protein synthesis at the synapse
58. Tetanic stimulation leads to increased accumulation of Ca(2+)/calmodulin-dependent protein kinase II via dendritic protein synthesis in hippocampal neurons
59. Dynamic visualization of local protein synthesis in hippocampal neurons
60. A cellular mechanism for targeting newly synthesized mRNAs to synaptic sites on dendrites
61. Selective targeting of newly synthesized Arc mRNA to active synapses requires NMDA receptor activation
62. Synaptic regulation of protein synthesis and the fragile X protein
63. Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
64. Evidence for altered fragile-X mental retardation protein expression in response to behavioral stimulation
65. Dendritic spine structural anomalies in fragile-X mental retardation syndrome
66. Analysis of neocortex in three males with the fragile X syndrome
67. Imprinting in Prader-Willi and Angelman syndromes
68. Progress in the autosomal segmental aneusomy syndromes (SASs): Single or multi-locus disorders
69. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
70. Serotonin receptors in cognitive behaviors
71. Review: Chromatin structural features and targets that regulate transcription
72. Rett syndrome: Criteria for inclusion and exclusion
73. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
74. MECP2 mutations account for most cases of typical forms of Rett syndrome
75. MeCP2 mutations in children with and without the phenotype of Rett syndrome
76. MECP2 is highly mutated in X-linked mental retardation
77. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
78. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
79. Methylation-induced repression: Belts, braces, and chromatin
80. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
81. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
82. Histone deacetylase directs the dominant silencing of transcription in chromatin: Association with MeCP2 and the Mi-2 chromodomain SWI/SNF ATPase
83. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
84. Molecular-clinical spectrum of the ATR-X syndrome
85. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X Syndrome)
86. Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation
87. A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy
88. Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chramosome: X inactivation in female carriers
89. ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome
90. FRAXA and FRAXE: The results of a five year survey
91. Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic and molecular data
92. A study of FRAXE in mentally-retarded individuals referred for fragile-X syndrome (FRAXA) testing in the United Kingdom
93. Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE
94. Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators
95. Localization of the fragile X mental retardation 2 (FMR2) protein in mammalian brain
96. Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE
97. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
98. Identification of the gene FMR2, associated with FRAXE mental retardation
99. FMR2 expression in families with FRAXE mental retardation
100. FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
101. An extended family with a dominantly inherited speech disorder
102. Feature-blind grammar and dysphagia
103. Genetic basis of grammar defect
104. Familial aggregation of a developmental language disorder
105. Praxic and nonverbal cognitve deficits in a large family with a genetically transmitted speed and language disorder
106. Localisation of a gene implicated in a severe speech and language disorder
107. A forkhead-domain gene is mutated in a severe speech and language disorder
108. Identification and characterization of members of the FKHR (FOX O) subclass of winged-helix transcription factors in the mouse
109. "Forkhead" gene expression balanced on a knife-edge
110. The putative forkhead transcription factor FOXL2 is mutated in Nepharophimosis/ptosis/epicanthus inversus syndrome
111. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
112. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
113. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
114. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
115. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
116. Progression from extrinsic to intrinsic signaling in cell fate specification: A view from the nervous system
117. Hierarchical organization of guidance receptors: Silencing of netrin attraction by slit through a Robo/DCC receptor complex
118. Squeezing axons out of the gray matter: A role for slit and semaphorin proteins from midline and ventral spinal cord
119. Cognitive modularity and genetic disorders
120. Williams-Beuren syndrome: Genes and mechanisms
121. Genetically dissociated components of working memory: Evidence from Dawn's and Williams syndrome
122. Down syndrome and the phonological loop: The evidence for, and importance of, a specific verbal short-term memory deficit