J Chelly

Summary

Country: France

Publications

  1. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
  2. ncbi request reprint Genetics and pathophysiology of mental retardation
    Jamel Chelly
    Institut Cochin, INSERM U567, CNRS UMR 8104, Universite Paris 5 Rene Descartes, Faculté de Médecine René Descartes, Paris, France
    Eur J Hum Genet 14:701-13. 2006
  3. ncbi request reprint Monogenic causes of X-linked mental retardation
    J Chelly
    Institut Cochin de Genetique Moleculaire, CNRS INSERM, CHU Cochin 75014 Paris, France
    Nat Rev Genet 2:669-80. 2001
  4. ncbi request reprint Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, 27, rue du Faubourg Saint Jacques, 75014, Paris, France
    Ann Genet 43:5-9. 2000
  5. ncbi request reprint A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
    R Zemni
    INSERM Unité 129 ICGM, CHU Cochin, Paris, France
    Nat Genet 24:167-70. 2000
  6. ncbi request reprint Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Med Genet 72:324-8. 1997
  7. ncbi request reprint A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Cell 92:51-61. 1998
  8. ncbi request reprint doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
    V Des Portes
    INSERM U129, Institut Cochin de Genetique Moleculaire, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Hum Mol Genet 7:1063-70. 1998
  9. ncbi request reprint Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
    T Bienvenu
    Institut National de la Santé et de la Recherche Médicale U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Med Genet 93:294-8. 2000
  10. ncbi request reprint Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system
    G Friocourt
    Laboratoire de Génétique et Physiopathologie des Retards Mentaux, ICGM, INSERM, CHU, Cochin, 24, rue du Faubourg Saint Jacques, Paris, 75014, France
    Mol Cell Neurosci 18:307-19. 2001

Detail Information

Publications93

  1. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
    ..Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated...
  2. ncbi request reprint Genetics and pathophysiology of mental retardation
    Jamel Chelly
    Institut Cochin, INSERM U567, CNRS UMR 8104, Universite Paris 5 Rene Descartes, Faculté de Médecine René Descartes, Paris, France
    Eur J Hum Genet 14:701-13. 2006
    ....
  3. ncbi request reprint Monogenic causes of X-linked mental retardation
    J Chelly
    Institut Cochin de Genetique Moleculaire, CNRS INSERM, CHU Cochin 75014 Paris, France
    Nat Rev Genet 2:669-80. 2001
    ..These findings provide important insights into the molecular and cellular defects that underlie mental retardation...
  4. ncbi request reprint Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, 27, rue du Faubourg Saint Jacques, 75014, Paris, France
    Ann Genet 43:5-9. 2000
    ..The other substitutions were located in exon 2, a G-->A substitution at position 133 (A45T), and in exon 10, a C-->T substitution at position 902 (T301M), but these are common polymorphisms rather than disease-causing mutations...
  5. ncbi request reprint A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
    R Zemni
    INSERM Unité 129 ICGM, CHU Cochin, Paris, France
    Nat Genet 24:167-70. 2000
    ..We speculate that through this interaction, TM4SF2 might have a role in the control of neurite outgrowth...
  6. ncbi request reprint Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Med Genet 72:324-8. 1997
    ..Recombination events observed with the flanking markers DXS1105 and DXS8067 delineate a 17 cM interval. This interval overlaps with several loci of XLMR disorders previously localized in Xq23-q24, which are reviewed herein...
  7. ncbi request reprint A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Cell 92:51-61. 1998
    ..The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion...
  8. ncbi request reprint doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
    V Des Portes
    INSERM U129, Institut Cochin de Genetique Moleculaire, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Hum Mol Genet 7:1063-70. 1998
    ..The absence of phenotype-genotype correlations suggests that X-inactivation patterns of neuronal precursor cells are likely to contribute to the variable clinical severity of this disorder in females...
  9. ncbi request reprint Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
    T Bienvenu
    Institut National de la Santé et de la Recherche Médicale U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Med Genet 93:294-8. 2000
    ..This mutation R67C is located in a conserved polybasic domain (AA 66-68) of the protein that is predicted to play a major role in the GTPases binding and stimulation of Pak activity...
  10. ncbi request reprint Doublecortin interacts with mu subunits of clathrin adaptor complexes in the developing nervous system
    G Friocourt
    Laboratoire de Génétique et Physiopathologie des Retards Mentaux, ICGM, INSERM, CHU, Cochin, 24, rue du Faubourg Saint Jacques, Paris, 75014, France
    Mol Cell Neurosci 18:307-19. 2001
    ..Taken together these data indicate that a certain proportion of Doublecortin interacts with AP-1 and/or AP-2 in vivo and are consistent with a potential involvement of Doublecortin in protein sorting or vesicular trafficking...
  11. ncbi request reprint Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor
    T Bienvenu
    INSERM U129, Institut Cochin de Genetique Moleculaire, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Hum Mol Genet 7:1311-5. 1998
    ..5-1%, and molecular diagnosis and genetic counselling in some cases of non-specific mental handicap can now be provided...
  12. ncbi request reprint Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Nature 392:923-6. 1998
    ..Such activation is known to affect cell migration and outgrowth of axons and dendrites in vivo. Our results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase...
  13. ncbi request reprint Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation
    K Poirier
    Institut Cochin INSERM U567, université Paris V René Descartes, IFR116, 24 rue du Faubourg St Jacques, 75014, Paris, France
    Hum Genet 118:45-8. 2005
    ..We thus show that the mother displays somatic mosaicism for the duplication thereby highlighting the need to reconsider the molecular screening in sporadic cases of MR...
  14. ncbi request reprint So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation
    V Des Portes
    Service de Neuropediatrie, Hopital Saint Vincent de Paul, Paris, France
    Seizure 11:273-7. 2002
    ..The pathophysiology of epilepsy in this woman is discussed in the light of the role of doublecortin, not only in neuronal migration, but also in axonal growth and dendritic connectivity...
  15. ncbi request reprint Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
    G Zanni
    University of Paris 5 René Descartes, INSERM Unité 567, CNRS UMR8104, Paris, France
    Neurology 65:1364-9. 2005
    ....
  16. ncbi request reprint Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons
    F Francis
    U129 de l INSERM, Institut Cochin de Genetique Moleculaire, Paris
    Neuron 23:247-56. 1999
    ..Our data suggest that the cortical dysgeneses associated with the loss of Doublecortin function might result from abnormal cytoskeletal dynamics in neuronal cell development...
  17. pmc Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    J Med Genet 34:177-83. 1997
    ..In addition, haplotype inheritance in two families showed a grandpaternal origin of the mutation and suggested in one family the presence of mosaicism in germline cells of normal transmitting males...
  18. ncbi request reprint DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genes
    P Couvert
    Université Paris V CHU Cochin, Paris, France
    Biotechniques 34:356-62. 2003
    ..We conclude that DHPLC analysis could be used to increase the throughput efficiency of methylation pattern analysis of imprinted genes after the bisulfite conversion of genomic DNA and unbiased PCR amplification...
  19. doi request reprint The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
    J Nectoux
    Laboratoire de Biochimie et Genetique Moleculaire, Hopital Cochin, Paris, France
    Neurology 70:2145-51. 2008
    ..One MeCP2 target is the brain-derived neurotrophic factor (BDNF) gene. We investigated, according to the MECP2 genotype, the role of the BDNF functional polymorphism (Val66Met) on the severity of RTT...
  20. ncbi request reprint Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia
    N McDonell
    Institut Cochin de Genetique Moleculaire, INSERM Unité 129, CHU Cochin Port Royal, 24 rue du Faubourg Saint Jacques, Paris, 75014, France
    Genomics 64:221-9. 2000
    ..Assembly and physical mapping of this complex 1-Mb contig establish a foundation for ongoing sequencing and gene identification projects in the region...
  21. doi request reprint Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes
    J Nectoux
    Genetics and Pathophysiology of Neurodevelopmental and Nueromuscular Disorders Department, Cochin Institute, Paris Descartes University, Paris, France
    J Cell Mol Med 14:1962-74. 2010
    ....
  22. ncbi request reprint Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy
    T Bienvenu
    Laboratoire de Biochimie et Génétique Moléculaire and INSERM U129 ICGM, Hopital Cochin, 123 Boulevard de Port Royal, 75014 Paris, France
    Hum Mutat 18:251-2. 2001
    ....
  23. ncbi request reprint Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation
    T Bienvenu
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris
    Eur J Hum Genet 5:105-9. 1997
    ..We identified a yeast artificial chromosome spanning the X-chromosome breakpoint by using fluorescent in situ hybridization techniques. A cosmid library of this YAC has been constructed and the search for candidate genes is in progress...
  24. ncbi request reprint [Update on the genetics of X-linked mental retardation]
    N Bahi-Buisson
    Departement de Pediatrie, Service de Neuropédiatrie et Maladies Métaboliques, Hopital Necker, and Université René Descartes, Paris, France
    Rev Neurol (Paris) 162:952-63. 2006
    ..Non syndromic XLMR proteins include 5 distinct classes: transmembrane receptors, small GTPases effectors or regulators, enzymes and translational regulators...
  25. ncbi request reprint Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation
    J Chelly
    INSERM U129 ICGM, CHU Cochin, Paris, France
    Hum Mol Genet 8:1833-8. 1999
    ....
  26. pmc A gene for dominant nonspecific X-linked mental retardation is located in Xq28
    V Des Portes
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Am J Hum Genet 60:903-9. 1997
    ..The interval of assignment noted in this family overlaps with five MRX loci previously reported in Xq28...
  27. doi request reprint Emerging major synaptic signaling pathways involved in intellectual disability
    A Pavlowsky
    Department of Genetic and Development, Institut Cochin, Universite Paris Descartes, CNRS, UMR8104, Paris, France
    Mol Psychiatry 17:682-93. 2012
    ....
  28. ncbi request reprint Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments
    S Akli
    Institut Cochin de Génétique Moléculaire ICGM, Institut National de la Sante et de la Recherche Medicale, Paris, France
    Genomics 11:124-34. 1991
    ..Applicable even to patients with splicing or nonsense mutations and very low mRNA abundance, it has therefore a potentially broad application in human genetics, for both diagnostic and fundamental purposes...
  29. ncbi request reprint Dystrophin gene transcribed from different promoters in neuronal and glial cells
    J Chelly
    Unité de Recherche en Génétique et Pathologie Moléculaire, INSERM, CHU Cochin, Paris, France
    Nature 344:64-5. 1990
    ..By contrast, the muscle-type promoter is active in a wider range of cell types, including not only striated and smooth muscle, but also glial cells to a lesser extent, and probably neurons...
  30. ncbi request reprint Striking conservation of the brain-specific region of the dystrophin gene
    J P Hugnot
    Institut Cochin de Genetique Moleculaire, INSERM U129, Paris, France
    Mamm Genome 4:393-6. 1993
  31. ncbi request reprint Developmental patterns in the expression of Myf5, MyoD, myogenin, and MRF4 during myogenesis
    D Montarras
    Institut Pasteur, Departement de Biologie Moleculaire, CNRS, Paris, France
    New Biol 3:592-600. 1991
    ..Temporal and phenotypic differences related to the expression of Myf5, MyoD, Myogenin, and MRF4 suggest that these factors fulfil distinct roles in the control of myogenesis...
  32. ncbi request reprint Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
    J Chelly
    INSERM U129, Institut Cochin de Genetique Moleculaire, Paris, France
    Cell 63:1239-48. 1990
    ..In two BMD patients with out-of-frame deletions, the presence of minor in-frame alternatively spliced mRNA species is congruent with the observed truncated dystrophin and the mild phenotype...
  33. ncbi request reprint Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized
    Thierry Bienvenu
    Institut Cochin, Départment de Génétique et Developpement, Paris, F 75014 France
    Nat Rev Genet 7:415-26. 2006
    ..As well as unravelling the mechanisms that underlie Rett syndrome, these studies provide more general insights into how DNA-methylation patterns are recognized and translated into biological outcomes...
  34. ncbi request reprint The incidence of Rett syndrome in France
    Thierry Bienvenu
    University Paris 5, Cochin Institute, INSERM U567, Centre National de la Recherche Scientifique Unitré Mixte de Reserche 8104, Paris, France
    Pediatr Neurol 34:372-5. 2006
    ..Given that this is a minimum incidence because complete inventory was not possible, this study of patients with Rett syndrome reinforces the fact that the great majority of patients with Rett syndrome have a MECP2 mutation...
  35. ncbi request reprint Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Hum Mutat 27:389. 2006
    ..In contrast to other XLMR genes in which mutations were found only in single or very few families, JARID1C appears to be one of the more frequently mutated genes in this disorder...
  36. ncbi request reprint The ARX mutations: a frequent cause of X-linked mental retardation
    Magdalena Nawara
    Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, Warsaw, Poland
    Am J Med Genet A 140:727-32. 2006
    ..These data, together with those reported in the literature, imply that screening for c.428-451 dup (24 bp) mutation should be recommended in all patients with suspected XLMR...
  37. ncbi request reprint Human disorders of cortical development: from past to present
    Fiona Francis
    Institut Cochin, Département de Génétique et Développement, Paris, F 75014 France
    Eur J Neurosci 23:877-93. 2006
    ..Taking such species differences into account is clearly critical for understanding the pathophysiological mechanisms associated with these disorders...
  38. ncbi request reprint The role of ARX in cortical development
    Gaelle Friocourt
    Department of Anatomy and Developmental Biology, University College London, London WC1E 6BT, UK
    Eur J Neurosci 23:869-76. 2006
    ....
  39. ncbi request reprint [X-linked mental retardation]
    Pierre Billuart
    Institut Cochin, GDPM, 24, rue du Faubourg St Jacques, 75014 Paris, France
    Med Sci (Paris) 21:947-53. 2005
    ..In this review, we illustrate the complexity of XLMR conditions and present recent data about the FMR1, ARX and Oligophrenin 1 genes...
  40. ncbi request reprint Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 28:207-8. 2007
    ..Our results show that it is now possible to identify 42% of the genetic defects in non-syndromic and syndromic XLMR families with obligate female carriers...
  41. ncbi request reprint Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
    Hum Genet 121:539-47. 2007
    ..So far, we have screened a cohort of 300 patients but did not find additional aberrations at the FTSJ1 locus indicating that the frequency is likely to be low...
  42. ncbi request reprint Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene
    Nathalie Deburgrave
    Institut Cochin, INSERM Unité 567, CNR UMR 1408, Université René Descartes Paris 5 UM3, Paris, France
    Hum Mutat 28:183-95. 2007
    ....
  43. doi request reprint Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis
    Gaelle Friocourt
    Department of Cell and Developmental Biology, University College London, London WC1E 6BT, United Kingdom
    J Neurosci 28:5794-805. 2008
    ..However, our data suggest that ARX is not directly involved in GABAergic cell fate specification. Overall, these results identify multiple and distinct cell-autonomous roles for ARX in corticogenesis...
  44. doi request reprint MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
    Suzanna Gerarda Maria Frints
    Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands
    Eur J Hum Genet 16:1029-37. 2008
    ....
  45. doi request reprint Revised spectrum of mutations in sarcoglycanopathies
    Madiha Trabelsi
    Laboratoire de Biochimie Génétique et Moléculaire, Hopital Cochin, Paris, France
    Eur J Hum Genet 16:793-803. 2008
    ....
  46. doi request reprint [Effective exon skipping in humans: a symbolic but promising jump into DMD therapy]
    Jean Claude Kaplan
    Universite Paris Descartes, Faculte de Medecine, Institut Cochin, 24, rue du Faubourg Saint Jacques, Paris, F 75014, France
    Med Sci (Paris) 24:215-7. 2008
  47. pmc Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Am J Hum Genet 82:432-43. 2008
    ..Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too...
  48. doi request reprint X-linked congenital ataxia: a new locus maps to Xq25-q27.1
    Ginevra Zanni
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104 Paris, France
    Am J Med Genet A 146:593-600. 2008
    ..2000]; however, the newly identified locus does not overlap with the one defined previously, indicating that there are at least two genes responsible for this rare form of X-linked congenital cerebellar ataxia with normal intelligence...
  49. ncbi request reprint Alternative transcripts of Dclk1 and Dclk2 and their expression in doublecortin knockout mice
    Françoise Phan Dinh Tuy
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
    Dev Neurosci 30:171-86. 2008
    ..These results, in addition to characterizing the transcript diversity of an important family of genes, should facilitate further studies of compensation in Dcx-deficient mice...
  50. ncbi request reprint Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy
    Juliette Nectoux
    Assistance Publique Hopitaux de Paris, Laboratoire de Biochimie et Génétique Moléculaires, Hopital Cochin, France
    Pediatr Neurol 37:270-4. 2007
    ..Our study suggests that Netrin G1 is not involved in atypical Rett syndrome or in unexplained encephalopathy with epilepsy, but in specific forms to be delineated better in the future...
  51. ncbi request reprint Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity
    Malik Khelfaoui
    Department of Genetic and Development, Institut Cochin, Universite Paris Descartes, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, F 75014 Paris, France
    J Neurosci 27:9439-50. 2007
    ..Altogether, these observations indicate that cognitive impairment related to OPHN1 loss of function is associated with both presynaptic and postsynaptic alterations...
  52. ncbi request reprint Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
    Karine Poirier
    Institut Cochin, Universite Paris Descartes, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Paris, France
    Hum Mutat 28:1055-64. 2007
    ..All together, these results, in combination with previously reported data, strengthen the relevance of the known interaction between MTs and DCX, and highlight the importance of the MTs/DCX complex in the neuronal migration process...
  53. pmc Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
    David A Keays
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK
    Cell 128:45-57. 2007
    ..We identified two patients with de novo mutations in TUBA3, the human homolog of Tuba1. This study demonstrates the utility of ENU mutagenesis in the mouse as a means to discover the basis of human neurodevelopmental disorders...
  54. ncbi request reprint X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family
    Hilde Van Esch
    Centre for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium
    Eur J Med Genet 48:145-52. 2005
    ..00. No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1. These data indicate that the interval Xp22.1-p21.3 contains at least one additional MRXS gene...
  55. ncbi request reprint Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
    Vera M Kalscheuer
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
    Nat Genet 35:313-5. 2003
    ..PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder...
  56. pmc Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
    Sarah A Shoichet
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Hum Genet 73:1341-54. 2003
    ..Our results suggest that ZNF41 is critical for cognitive development; further studies aim to elucidate the specific mechanisms by which ZNF41 alterations lead to MR...
  57. ncbi request reprint MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation
    Marie Gomot
    Service de Genetique, CHU Bretomeau, INSERM U316, 2 boulevard Tonnelle, 37044 Tours Cedex, France
    Am J Med Genet A 123:129-39. 2003
    ..Regression of language skills was suspected in three patients. Phenotype-genotype correlation could thus be suspected and is discussed in these three families...
  58. ncbi request reprint A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33
    Carolina Sismani
    The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Am J Med Genet A 122:46-50. 2003
    ..No mutations were found in the MRX77 family for three known or candidate MRX genes, from this region OPHN1, RSK4, and ATR-X. These data indicate that the Xq12-Xq21.33 interval contains at least one additional MRX gene...
  59. ncbi request reprint The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain
    Fabien Fauchereau
    Institut Cochin, INSERM U567, CNRS UMR8104, université Paris V René Descartes, IFR116, 24 rue du Fg St Jacques, 75014, Paris, France
    Mol Cell Neurosci 23:574-86. 2003
    ..Interestingly the amino-terminal domain of OPHN1 inhibits the RhoGAP activity through an as yet unknown mechanism, suggesting that OPHN1 may be tightly regulated in vivo...
  60. ncbi request reprint In vitro follicular growth affects oocyte imprinting establishment in mice
    Antoine Kerjean
    GDPM, Institut Cochin, INSERM, CNRS Université Paris V and CHU Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Eur J Hum Genet 11:493-6. 2003
    ....
  61. ncbi request reprint Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene
    Suzanna G M Frints
    Human Genome Laboratory and Flanders Interuniversity Institute for Biotechnology, University of Leuven, Leuven, Belgium
    Am J Med Genet A 119:367-74. 2003
    ..Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended...
  62. ncbi request reprint Doublecortin functions at the extremities of growing neuronal processes
    Gaelle Friocourt
    Laboratoire de Génétique et Physiopathologie des Retards Mentaux, GDPM, Institut Cochin, 24 rue du Faubourg Saint Jacques, F 75014 Paris, France
    Cereb Cortex 13:620-6. 2003
    ..The observations summarized here favor the suggestion that whereas LIS1 may play a role in nuclear migration, Doublecortin is instead restricted to functions at the leading edge of the cell...
  63. pmc Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
    Frederic Laumonnier
    Service de GénétiquehyphenINSERM U316, CHU Bretonneau, Tours, France
    Am J Hum Genet 71:1450-5. 2002
    ....
  64. ncbi request reprint Spectrum of MECP2 mutations in Rett syndrome
    Thierry Bienvenu
    INSERM U129 ICGM, Faculté de Médecine Cochin, 75014 Paris, France
    Genet Test 6:1-6. 2002
    ..These data demonstrate the high allelic heterogeneity of RTT in France and provide information relevant to the development of strategies for molecular diagnosis and genetic counseling in RTT families...
  65. ncbi request reprint ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
    Thierry Bienvenu
    Institut Cochin CHU Cochin Port Royal, 75014 Paris, France
    Hum Mol Genet 11:981-91. 2002
    ..The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities...
  66. ncbi request reprint FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
    Ilaria Meloni
    Medical Genetics, Department of Molecular Biology, University of Siena, Italy
    Nat Genet 30:436-40. 2002
    ..FACL4 is the first gene shown to be involved in nonspecific mental retardation and fatty-acid metabolism...
  67. ncbi request reprint Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
    Christophe Beroud
    Institut Cochin and Laboratory of Molecular Genetics, Cochin Hospital, Paris, France
    Neuromuscul Disord 14:10-8. 2004
    ..It would be missed if the exploration of the DMD gene is exclusively performed on exons and flanking sequences of genomic DNA...
  68. ncbi request reprint Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene
    Vincent des Portes
    Service de Pediatrie, HCL, Centre Hospitalier Lyon Sud, 69395 Pierre Bénite, France
    Am J Med Genet A 124:364-71. 2004
    ..In addition, OPHN-1 inactivation should be considered as a relevant model of developmental vermis disorganization, leading to a better understanding of the possible role of the cerebellum in MR...
  69. ncbi request reprint Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males
    Karine Poirier
    Eur J Hum Genet 13:523-4. 2005
  70. ncbi request reprint Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes
    Gaelle Friocourt
    Laboratoire de Génétique et Physiopathologie des Retards Mentaux, GDPM, Institut Cochin, 75014 Paris, France
    Mol Cell Neurosci 28:153-64. 2005
    ..These results thus suggest that in addition to vesicular trafficking, DCX may play a role in the regulation of cell adhesion via its interaction with DFFRX in migrating and differentiating neurons...
  71. pmc Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
    Lars Riff Jensen
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Hum Genet 76:227-36. 2005
    ..Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function...
  72. ncbi request reprint In-frame deletion in MECP2 causes mild nonspecific mental retardation
    Helger G Yntema
    Am J Med Genet 107:81-3. 2002
  73. ncbi request reprint Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations
    Jean Louis Mandel
    Institut de Génétique et Biologie Moléculaire et Cellulaire IGBMC CNRS INSERM Université Louis Pasteur, College de France, 67404 Illkirch CU Strasbourg, France
    Eur J Hum Genet 12:689-93. 2004
    ..13%). We conclude that monogenic XLMR has much lower prevalence in male MR (< 10%) than the 23% that would be required to account for a 30% male excess of mental retardation...
  74. pmc Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
    Kristine Freude
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Hum Genet 75:305-9. 2004
    ..FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development...
  75. ncbi request reprint Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
    Ludmila Kousoulidou
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
    Eur J Med Genet 50:399-410. 2007
    ....
  76. ncbi request reprint Loss of parental-specific methylation at the IGF2 locus in human hepatocellular carcinoma
    Karine Poirier
    GDPM Institut Cochin INSERM CNRS Université Paris V CHU Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    J Pathol 201:473-9. 2003
    ..These observations suggest that loss of parental-specific methylation at the IGF2 locus may be specifically associated with HCC, whether virus-associated or non-virus-associated, and arising in cirrhotic or non-cirrhotic livers...
  77. ncbi request reprint Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder
    Patrick Vourc'h
    Am J Med Genet 108:164-7. 2002
  78. ncbi request reprint X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
    Lars Riff Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Eur J Hum Genet 15:68-75. 2007
    ..We show that many of the studied genes are unlikely to play a major role in MRX. This information will help to avoid duplication of efforts in the ongoing endeavor to unravel the molecular causes of MRX...
  79. ncbi request reprint Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
    Olivier Hagens
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
    Hum Genet 118:578-90. 2006
    ..Our results suggest that hKIAA1202 may be important in cognitive function and/or development...
  80. ncbi request reprint Pitfalls of the morphologic approach
    Ferechte Encha-Razavi
    J Neuropathol Exp Neurol 65:302; author reply 302-3. 2006
  81. ncbi request reprint TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment
    Marie Gomot
    Service de Genetique, INSERM 4316 CHU Bretonneau, Tours, France
    Am J Med Genet 112:400-4. 2002
    ....
  82. ncbi request reprint Calpain 10 and development of diabetes mellitus in cystic fibrosis
    Salma Derbel
    Laboratoire de Biochimie et Génétique Moléculaire and Université René Descartes Paris 5, Institut Cochin, INSERM U567, GDPM, Paris, France
    J Cyst Fibros 5:47-51. 2006
    ..4 (p=0.02). All allele and genotype distributions for the other polymorphisms were similar in the three groups. In conclusion, our observations suggest that UCSNP-19 of CAPN10 may be involved in the pathogenesis of diabetes in CF...
  83. pmc ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
    Dorien Lugtenberg
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 78:265-78. 2006
    ..Identification of ZNF674 as the third XLMR gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning...
  84. ncbi request reprint IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis
    Nadia Bahi
    Institut Cochin, INSERM Unité 567, CNRS UMR 8104, Universite Paris V, CHU Cochin, 24 rue du Faubourg Saint Jacques, 75 014 Paris, France
    Hum Mol Genet 12:1415-25. 2003
    ..Taken together, our data suggest that IL1RAPL may regulate calcium-dependent exocytosis and provide insight into the understanding of physiopathological mechanisms underlying cognitive impairment resulting from IL1RAPL dysfunction...
  85. pmc X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
    Frederic Laumonnier
    INSERM U619 Génétique de l Autisme et de la Déficience Mentale, CHU Bretonneau, Tours, France
    Am J Hum Genet 74:552-7. 2004
    ....
  86. ncbi request reprint Nonsyndromic X-linked mental retardation: where are the missing mutations?
    Hans Hilger Ropers
    Max Planck Institut fur Molekulare Genetik, Ihnestrasse 73, D 14195 Berlin, Germany
    Trends Genet 19:316-20. 2003
    ..In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder...
  87. ncbi request reprint Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons
    Karine Poirier
    Laboratoire de Génétique et de Physiopathologie des Retards Mentaux, Institut Cochin INSERM U567, Université Paris V 24, rue du Faubourg Saint Jacques, 75014 Paris, France
    Brain Res Mol Brain Res 122:35-46. 2004
    ..Moreover, no abnormal cell death or protein aggregation was observed, hence suggesting that more subtle pathogenic mechanisms are involved...
  88. ncbi request reprint Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency
    Caroline Kappeler
    Département de Génétique et Développement, Institut Cochin, F 75014 Paris, France
    J Comp Neurol 500:239-54. 2007
    ..Our data in the mouse, identifying roles for Dcx in hippocampal and corpus callosal development, might suggest intrinsic roles for human DCX in the development of these structures...
  89. ncbi request reprint Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
    Wei Chen
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Eur J Hum Genet 15:375-8. 2007
    ..All the observed changes appear to be functionally neutral which, taken together with the rarity of detected nucleotide changes in miRNA genes, may reflect strong selection and thus underline the functional importance of miRNAs...
  90. ncbi request reprint Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice
    Caroline Kappeler
    Département de Génétique et Développement, Institut Cochin, F 75014 Paris, France
    Hum Mol Genet 15:1387-400. 2006
    ..These novel data thus highlight a role for Dcx, a microtubule-associated protein enriched at the leading edge in the branching and nucleokinesis of migrating interneurons...
  91. pmc IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation
    Frederic Gambino
    Département Neurotransmission et Sécrétion Neuroendocrine, Institut des Neurosciences Cellulaires et Integratives, Universite Louis Pasteur, 5 rue Blaise Pascal, 67084 Strasbourg, France
    Proc Natl Acad Sci U S A 104:9063-8. 2007
    ..Because both proteins are highly expressed in neurons, these results suggest that IL1RAPL1-related mental retardation could result from a disruption of N-VGCC and/or NCS-1-dependent synaptic and neuronal activities...
  92. ncbi request reprint Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation
    Armand Bottani
    Department of Genetic Medicine and Development, Geneva University Medical School and University Hospitals, Geneva, Switzerland
    Am J Med Genet A 143:888-90. 2007
  93. ncbi request reprint From fragile X mental retardation protein to Rac1 GTPase: new insights from Fly CYFIP
    Pierre Billuart
    Institut Cochin, INSERM Unité 567, CNRS 8104, Universite Paris V, CHU Cochin, 24 rue du Faubourg Saint Jacques, 75014, Paris, France
    Neuron 38:843-5. 2003
    ....