Stylianos E Antonarakis

Summary

Affiliation: University of Geneva
Country: Switzerland

Publications

  1. doi request reprint Mendelian disorders and multifactorial traits: the big divide or one for all?
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Nat Rev Genet 11:380-4. 2010
  2. pmc Passive and active DNA methylation and the interplay with genetic variation in gene regulation
    Maria Gutierrez-Arcelus
    Department of Medical Genetics and Development, University of Geneva Medical School, Geneva, Switzerland Institute of Genetics and Genomics in Geneva, University of Geneva Medical School, Geneva, Switzerland Swiss Institute of Bioinformatics, Geneva, Switzerland
    elife 2:e00523. 2013
  3. pmc TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm
    Alberto De Iaco
    Department of Microbiology and Molecular Medicine, University of Geneva, 1205, Geneva, Switzerland
    Retrovirology 10:20. 2013
  4. pmc Systems medicine and integrated care to combat chronic noncommunicable diseases
    Jean Bousquet
    Department of Respiratory Diseases, Arnaud de Villeneuve Hospital, CHU Montpellier, INSERM CESP U1018, Villejuif, France
    Genome Med 3:43. 2011
  5. pmc A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
    Rossella De Cegli
    Telethon Institute of Genetics and Medicine, Via P, Castellino 111, Napoli, 80131, Italy
    Genome Biol 11:R64. 2010
  6. pmc From sequence to functional understanding: the difficult road ahead
    Periklis Makrythanasis
    Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Genome Med 3:21. 2011
  7. doi request reprint Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?
    Periklis Makrythanasis
    Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland
    Eur J Med Genet 55:63-6. 2012
  8. pmc The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
    M Reza Sailani
    Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland
    Genome Res 23:1410-21. 2013
  9. pmc Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus
    Uppala Radhakrishna
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, Geneva, Switzerland
    Eur J Hum Genet 20:1032-6. 2012
  10. pmc Extensive natural variation for cellular hydrogen peroxide release is genetically controlled
    Homa Attar
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    PLoS ONE 7:e43566. 2012

Detail Information

Publications88

  1. doi request reprint Mendelian disorders and multifactorial traits: the big divide or one for all?
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Nat Rev Genet 11:380-4. 2010
    ....
  2. pmc Passive and active DNA methylation and the interplay with genetic variation in gene regulation
    Maria Gutierrez-Arcelus
    Department of Medical Genetics and Development, University of Geneva Medical School, Geneva, Switzerland Institute of Genetics and Genomics in Geneva, University of Geneva Medical School, Geneva, Switzerland Swiss Institute of Bioinformatics, Geneva, Switzerland
    elife 2:e00523. 2013
    ..DOI:http://dx.doi.org/10.7554/eLife.00523.001...
  3. pmc TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm
    Alberto De Iaco
    Department of Microbiology and Molecular Medicine, University of Geneva, 1205, Geneva, Switzerland
    Retrovirology 10:20. 2013
    ..Yet, an equal number of investigators have failed to obtain evidence that supports this model. Here, a series of experiments were performed to better elucidate the mechanism by which TNPO3 promotes HIV-1 infectivity...
  4. pmc Systems medicine and integrated care to combat chronic noncommunicable diseases
    Jean Bousquet
    Department of Respiratory Diseases, Arnaud de Villeneuve Hospital, CHU Montpellier, INSERM CESP U1018, Villejuif, France
    Genome Med 3:43. 2011
    ..This systems medicine strategy, which will take a holistic approach to disease, is designed to allow the results to be used globally, taking into account the needs and specificities of local economies and health systems...
  5. pmc A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
    Rossella De Cegli
    Telethon Institute of Genetics and Medicine, Via P, Castellino 111, Napoli, 80131, Italy
    Genome Biol 11:R64. 2010
    ..Dosage imbalance is responsible for several genetic diseases, among which Down syndrome is caused by the trisomy of human chromosome 21...
  6. pmc From sequence to functional understanding: the difficult road ahead
    Periklis Makrythanasis
    Department of Genetic Medicine and Development, University of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Genome Med 3:21. 2011
    ..This is the main challenge for the advancement of genomic medicine in the years to come...
  7. doi request reprint Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?
    Periklis Makrythanasis
    Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland
    Eur J Med Genet 55:63-6. 2012
    ..We hypothesize that this deletion is likely to contribute to the phenotype of the patient. This case underlines the contribution of aCGH in discovering potentially pathogenic CNVs in consanguineous matings...
  8. pmc The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
    M Reza Sailani
    Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland
    Genome Res 23:1410-21. 2013
    ..In addition, a yet-unidentified genetic variation in the rest of the genome may contribute to this complex genetic architecture. ..
  9. pmc Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus
    Uppala Radhakrishna
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, Geneva, Switzerland
    Eur J Hum Genet 20:1032-6. 2012
    ..The present study represents the first confirmation of FRMD7 gene mutations in a multigenerational Indian family and expands the mutation spectrum for this locus...
  10. pmc Extensive natural variation for cellular hydrogen peroxide release is genetically controlled
    Homa Attar
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    PLoS ONE 7:e43566. 2012
    ....
  11. pmc Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts
    Christelle Borel
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland
    Genome Res 21:68-73. 2011
    ..Furthermore, we detected one genomic locus (rs1522653) that influences the expression levels of five miRNAs, thus unraveling a novel mechanism for coregulation of miRNA expression...
  12. pmc Genetic and epigenetic regulation of human lincRNA gene expression
    Konstantin Popadin
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva, Switzerland Institute of Genetics and Genomics in Geneva iGE3, 1211 Geneva, Switzerland Institute for Information Transmission Problems Kharkevich Institute, Russian Academy of Sciences, Moscow 127994, Russia
    Am J Hum Genet 93:1015-26. 2013
    ..These similarities and differences in genetic and epigenetic regulation between lincRNAs and protein-coding genes contribute to the elucidation of potential functions of lincRNAs. ..
  13. pmc Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
    Federico A Santoni
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva 4, Switzerland
    Genome Res 24:349-55. 2014
    ..Our results demonstrate that VariantMaster is considerably more accurate in terms of precision and sensitivity compared with previously published algorithms. ..
  14. pmc DNA methylation profiles of human active and inactive X chromosomes
    Andrew J Sharp
    Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva 4, Switzerland
    Genome Res 21:1592-600. 2011
    ..Our study provides a detailed analysis of the epigenetic profile of active and inactive X chromosomes...
  15. ncbi request reprint Domains of genome-wide gene expression dysregulation in Down's syndrome
    Audrey Letourneau
    1 Department of Genetic Medicine and Development, University of Geneva Medical School, University Hospitals of Geneva, 1211 Geneva, Switzerland 2
    Nature 508:345-50. 2014
    ..These results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes. ..
  16. doi request reprint Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
    Frederique Bena
    Service of Genetic Medicine, Geneva University Hospital, Geneva, Switzerland
    Am J Med Genet B Neuropsychiatr Genet 162:388-403. 2013
    ..The additional rare copy number variants identified may act as possible phenotypic modifiers as suggested in a recent digenic model of neurodevelopmental disorders...
  17. doi request reprint Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB
    Christelle Borel
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Hum Mutat 33:1302-9. 2012
    ..More broadly, we propose that polymorphic tandem repeats may represent the causative variation of a fraction of cis-eQTLs in the genome...
  18. pmc Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences
    Daniel Robyr
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
    PLoS ONE 6:e17634. 2011
    ..These CNC-CNC interactions may in part explain their stringent conservation as a group of regulatory sequences...
  19. pmc Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
    Youssef Hibaoui
    Stem Cell Research Laboratory Department of Obstetrics and Gynecology, Geneva University Hospitals, Geneva, Switzerland
    EMBO Mol Med 6:259-77. 2014
    ..Importantly, we found that targeting DYRK1A pharmacologically or by shRNA results in a considerable correction of these defects. ..
  20. pmc Transcriptional and post-transcriptional profile of human chromosome 21
    Sergey I Nikolaev
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Genome Res 19:1471-9. 2009
    ..We demonstrate that the combination of RNA fractionation and tiling arrays is a powerful method to assess the transcriptional and post-transcriptional properties of genomic regions...
  21. doi request reprint Genomic determinants in the phenotypic variability of Down syndrome
    Audrey Letourneau
    Department of Genetic Medicine and Development, University of Geneva Medical School, University Hospitals of Geneva, and iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland
    Prog Brain Res 197:15-28. 2012
    ....
  22. pmc Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
    Catia Attanasio
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211, Geneva 4, Switzerland
    Genome Biol 9:R168. 2008
    ..However, such deeply conserved elements account for <1% of the conserved non-coding sequences in the human genome, which are predominantly mammalian...
  23. ncbi request reprint Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation
    Karen Bedard
    Department of Pathology and Immunology, University of Geneva Medical School and University Hospitals, Geneva, Switzerland
    Hum Mutat 30:1123-33. 2009
    ..These results help to unravel the complex nature of how genetic variations in CYBA influence NOX2 activity, and indicate that haplotypes, rather than individual SNPs, define the effect on ROS generation...
  24. pmc Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15
    Andrew J Sharp
    Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland
    Genome Res 20:1271-8. 2010
    ..Application of this methodology to other chromosomes for which UPD has been reported will allow the systematic identification of imprinted sites throughout the genome...
  25. pmc Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Eur J Hum Genet 17:454-66. 2009
    ..However, most of these regions are still broad, and more cases are needed to narrow down the phenotypic maps to a reasonable number of candidate genomic elements per phenotype...
  26. ncbi request reprint Human chromosome 21 gene expression atlas in the mouse
    Alexandre Reymond
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, CMU, 1, rue Michel Servet, 1211 Geneva, Switzerland
    Nature 420:582-6. 2002
    ..This high resolution expression 'atlas' of an entire human chromosome is an important step towards the understanding of gene function and of the pathogenetic mechanisms in Down's syndrome...
  27. ncbi request reprint Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome
    Samuel Deutsch
    University of Geneva, Switzerland
    Blood 102:529-34. 2003
    ..We hypothesize that haploinsufficiency of the MYH9 results in a failure to properly reorganize the cytoskeleton in megakaryocytes as required for efficient platelet production...
  28. pmc Transcriptome and genome sequencing uncovers functional variation in humans
    Tuuli Lappalainen
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland
    Nature 501:506-11. 2013
    ..Altogether, this study provides a deep understanding of the cellular mechanisms of transcriptome variation and of the landscape of functional variants in the human genome...
  29. pmc Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome
    Alexandra C Nica
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland
    Genome Res 23:1554-62. 2013
    ..This first molecular blueprint of the human beta cell offers biological insight into its differentiated function, including expression of key genes associated with both major types of diabetes. ..
  30. doi request reprint Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome
    Sergey I Nikolaev
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Blood 122:554-61. 2013
    ....
  31. doi request reprint A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas
    Sergey I Nikolaev
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Cancer Res 72:6279-89. 2012
    ..We propose that single-stranded DNA generated in response to oncogene-induced replication stress compromises the repair of deaminated cytosines and other damaged bases, leading to the observed SNS mutator phenotype...
  32. doi request reprint Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma
    Sergey I Nikolaev
    Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
    Nat Genet 44:133-9. 2012
    ..Furthermore, missense and nonsense somatic mutations were frequently found in three candidate melanoma genes, FAT4, LRP1B and DSC1...
  33. doi request reprint Regulation of fibrinogen production by microRNAs
    Alexandre Fort
    Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine, Geneva, Switzerland
    Blood 116:2608-15. 2010
    ....
  34. pmc Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing
    Sergey I Nikolaev
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    PLoS ONE 4:e6659. 2009
    ....
  35. doi request reprint A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
    Frederique Bena
    Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Hum Mol Genet 19:1967-73. 2010
    ....
  36. doi request reprint Functional genetic variation of human miRNAs and phenotypic consequences
    Christelle Borel
    Department of Genetic Medicine, University of Geneva Medical School and University Hospitals of Geneva, Geneva, 1211, Switzerland
    Mamm Genome 19:503-9. 2008
    ..Illustrative examples are discussed that demonstrate the biological importance of functional polymorphisms affecting miRNA-mediated gene regulation...
  37. pmc A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus
    Marc Friedli
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
    PLoS ONE 5:e15741. 2010
    ....
  38. doi request reprint Eye gaze during face processing in children and adolescents with 22q11.2 deletion syndrome
    Bronwyn Glaser
    University of Geneva School of Medicine, Switzerland
    J Am Acad Child Adolesc Psychiatry 49:665-74. 2010
    ..The current study investigated eye gaze as a potential marker during a face-processing task in children and young adolescents with 22q11DS...
  39. pmc Early history of mammals is elucidated with the ENCODE multiple species sequencing data
    Sergey Nikolaev
    Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
    PLoS Genet 3:e2. 2007
    ..Thus, the two datasets support the Afrotheria hypothesis; however, none can reject both of the remaining topological alternatives...
  40. pmc Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34
    Uppala Radhakrishna
    Green Cross Blood Bank and Genetic Research Centre, Paldi, India
    Am J Hum Genet 79:580-5. 2006
    ..17 cM (7.42 Mb) between SNPs rs951095 and rs726455. Thus, we have identified a novel genomic region on 13q33.1-34 that harbors a high-risk variant for CL-P in these Indian families...
  41. ncbi request reprint Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass
    Serge L Ferrari
    Division of Bone Diseases, Department of Rehabilitation and Geriatrics, Geneva University Hospital, Geneva, Switzerland
    Curr Opin Lipidol 16:207-14. 2005
    ..This review summarizes recent findings concerning the genomic variations of the lipoprotein receptor-related protein 5 (LPR5) in relation to bone biology...
  42. ncbi request reprint Chromosome 21 and down syndrome: from genomics to pathophysiology
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Nat Rev Genet 5:725-38. 2004
    ..Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance...
  43. pmc Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 14:1268-74. 2004
    ..5-fold. These data provide candidate genes that might be involved in the phenotypes of Down syndrome, and reveal a complex regulation of gene expression that is not only related to gene copy number...
  44. ncbi request reprint Mendelian disorders deserve more attention
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospital of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Nat Rev Genet 7:277-82. 2006
    ..The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits...
  45. ncbi request reprint MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
    Alexandre G Dayer
    Service of Medical Genetics and Neuropediatric Unit, Geneva University Hospitals, 1 rue Michel Servet 1211, Geneva Switzerland
    Brain Dev 29:47-50. 2007
    ..The finding of a MECP2 mutation in an unaffected female complicates genetic counseling and further confirms that it is essential to look for mutations in the mothers of all patients with MECP2 mutations...
  46. pmc Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment
    Emmanouil T Dermitzakis
    Division of Medical Genetics, University of Geneva Medical School, CH 1211 Geneva, Switzerland
    Genome Res 14:852-9. 2004
    ..We propose models for a global role of CNGs in genome function and regulation, through long-distance cis or trans chromosomal interactions...
  47. pmc Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites
    Serge L Ferrari
    Division of Bone Diseases, University Hospital of Geneva, Geneva 1211, Switzerland
    Am J Hum Genet 74:866-75. 2004
    ..Together, these results suggest that LRP5 variants significantly contribute to LS-bone-mass and size determination in men by influencing vertebral bone growth during childhood...
  48. ncbi request reprint Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin
    Olivier Menzel
    Division of Medical Genetics, University of Geneva Medical School and University Hospital of Geneva, Geneva, Switzerland
    Hum Mutat 23:77-84. 2004
    ..We named the second unmapped locus for Knobloch syndrome KNO2. Mutation analysis excluded COL15A1, a member of the multiplexin collagen subfamily similar to COL18A1, as being responsible for KNO2...
  49. ncbi request reprint Chromosome 21: a small land of fascinating disorders with unknown pathophysiology
    Stylianos E Antonarakis
    Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Switzerland
    Int J Dev Biol 46:89-96. 2002
    ..All of that requires the functional analysis of gene products in model organisms, and the determination of the sequence variation of this chromosome...
  50. ncbi request reprint Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12
    Marc Friedli
    Division of Medical Genetics, Centre Medical Universitaire, University of Geneva Medical School, 1 rue Michel Servet, CH 1211 Geneva 4, Switzerland
    Gene 320:31-40. 2003
    ..Attempts to functionally characterise CLIC6 by voltage clamp failed to show any chloride channel activity. Hence, the exact function of this protein remains unknown...
  51. ncbi request reprint Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)
    Emmanouil T Dermitzakis
    Division of Medical Genetics and National Center of Competence in Research NCCR Frontiers in Genetics, University of Geneva Medical School and University Hospitals, 1211 Geneva, Switzerland
    Science 302:1033-5. 2003
    ..About 0.3% to 1% of the human genome corresponds to a previously unknown class of extremely constrained CNGs shared among mammals...
  52. doi request reprint Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes
    Konstantin Yu Popadin
    Department of Genetic Medicine and Development, University of Geneva Medical School and iGE3 Institute of Genetics and Genomics of Geneva, Switzerland
    Mol Biol Evol 30:347-55. 2013
    ..The harmful effect of mitochondrial de novo nonsynonymous mutations triggers highly effective purifying selection, which maintains the fitness of the mammalian mitochondrial genome...
  53. doi request reprint Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele
    Uppala Radhakrishna
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    J Med Genet 49:270-6. 2012
    ..The purpose of this study was to identify the underlying genetic mechanisms of a large autosomal dominant Caucasian family with omphalocele...
  54. doi request reprint Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice
    Siv Fokstuen
    Genetic Medicine, Centre Medical Universitaire, 1 rue Michel Servet, Geneva, Switzerland
    J Med Genet 48:572-6. 2011
    ..However, the remarkable genetic and allelic heterogeneity makes molecular analysis by conventional methods very time-consuming, expensive and difficult to realise in a routine diagnostic molecular laboratory...
  55. ncbi request reprint Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro
    Marie Wattenhofer
    Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, Geneva, Switzerland
    Hum Mutat 25:543-9. 2005
    ..Our results indicate that the ability of CLDN14 to be recruited to these junctions is crucial for the hearing process...
  56. ncbi request reprint Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling
    Nathalie Lin-Marq
    Department of Genetics Medicine and Development, University of Geneva Medical School, C M U, 1 rue Michel Servet, 1211, Geneve 4, Switzerland
    Mol Genet Genomics 273:184-96. 2005
    ..This suggests that pathogenic LKB1 mutations that lead to activation of the Wnt/beta-catenin pathway could contribute to the cancer predisposition of PJS patients...
  57. ncbi request reprint Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
    Marie Wattenhofer
    Graduate Program of Molecular and Cellular Biology, University of Geneva Medical School, Geneva, Switzerland
    J Mol Med (Berl) 80:124-31. 2002
    ..45%, and approximately 0.38% in the general Caucasian childhood deaf population. However, TMPRSS3 is still an important contributor to genetic deafness in populations with large consanguineous families...
  58. ncbi request reprint Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers
    Gabriel Gold
    Department of Geriatrics, Belle Idée Hospital Center, University Hospitals of Geneva, Geneva, Switzerland
    Am J Med Genet B Neuropsychiatr Genet 119:44-7. 2003
    ....
  59. ncbi request reprint Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor
    Ruth Landau
    Division of Anesthesiology and Department of Obstetrics and Gynecology, University Hospital of Geneva, University of Geneva Medical School, Geneva, Switzerland
    Clin Pharmacol Ther 78:656-63. 2005
    ..We have demonstrated that homozygosity for Arg16 protects against preterm delivery. Our goal was to determine whether beta(2)-agonists are more effective in women with the Arg16 genotype and preterm labor...
  60. ncbi request reprint The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development
    Olivier Menzel
    Division of Medical Genetics, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Genomics 84:320-30. 2004
    ..These results show that pad-2 is required for normal development and suggest potential roles for C21orf80 in the pathogenesis of DS...
  61. ncbi request reprint Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes
    Samuel Deutsch
    Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland
    Hum Mol Genet 14:3741-9. 2005
    ..5-fold in control samples, are unlikely to be involved in DS-phenotypes present in all affected individuals...
  62. pmc Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
    Paola Prandini
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
    Am J Hum Genet 81:252-63. 2007
    ..This study provides the first extensive data set on HSA21 gene-expression variation in DS and underscores its role in modulating the outcome of gene-dosage imbalance...
  63. pmc Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling
    Patrick Callier
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland FHU TRANSLAD, Département de génétique, Hopital Le Bocage, CHU, Dijon, France EA 4271 GAD Génétique des Anomalies du Développement, Universite de Bourgogne, Dijon, France
    PLoS Genet 10:e1004340. 2014
    ..Furthermore, they provide the first clinical evidence of the essential role played by lipid modification of Hh proteins in human testicular organogenesis and embryonic development. ..
  64. doi request reprint Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events
    Sophie Dahoun
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Am J Med Genet A 146:2086-93. 2008
    ....
  65. doi request reprint Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome
    Maude Schneider
    Department of Psychiatry, University of Geneva School of Medicine, Geneva, Switzerland
    Psychiatry Res 196:277-84. 2012
    ..Met carriers were rated as experiencing significantly more symptoms of amotivation. The results are interpreted in the light of existing cognitive models in the field of motivation and schizophrenia...
  66. pmc Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements
    Sergey I Nikolaev
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Proc Natl Acad Sci U S A 104:20443-8. 2007
    ..This observation may explain why the evolution of CNCs fits the expectations of the nearly neutral theory less well than the evolution of nonsynonymous sites...
  67. doi request reprint Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3
    Marc Friedli
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Mamm Genome 19:272-8. 2008
    ..Interestingly, the Dac2j mutation occurs within a highly conserved element that may represent a regulatory sequence for a neighboring gene...
  68. doi request reprint A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
    Siv Fokstuen
    Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Hum Mutat 29:879-85. 2008
    ..The high-throughput HCM resequencing array is the most rapid and cost-effective tool for molecular testing of HCM to date; it thus has considerable potential in diagnostic and predictive testing, and prognostic stratification...
  69. pmc Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development
    Jérôme Bonnefont
    Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Rue Michel Servet 1, 1211 Geneva, Switzerland
    Am J Hum Genet 83:208-18. 2008
    ..Thus, we propose that the recent emergence and multiplication of the RFPL1,2,3 genes contribute to changes in primate neocortex size and/or organization...
  70. pmc Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls
    Periklis Makrythanasis
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Hum Mutat 30:E866-79. 2009
    ..21 for approximately 1.3 Mb sequenced for each class of sequences, p=0.0025). Thus the evolutionary forces that shape these novel exons may be different than those of neighboring sequences...
  71. ncbi request reprint Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Am J Med Genet A 140:1384-95. 2006
    ..Our data suggest that SHFM3 may be caused by overexpression of BTRC and SUFU, both of which are involved in beta-catenin signalling...
  72. ncbi request reprint Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases
    Miguel Valiente
    Centro de Investigacion Principe Felipe, Valencia 46013, Spain and Division of Medical Genetics, Centre Medical Universitaire, University of Geneva Medical School, 1 rue Michel Servet, Geneva CH 1211, Switzerland
    J Biol Chem 280:28936-43. 2005
    ....
  73. ncbi request reprint A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein
    Marie Wattenhofer
    Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
    Hum Genet 117:528-35. 2005
    ....
  74. doi request reprint Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
    Hanan Hamamy
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals of Geneva, Geneva, Switzerland
    Genet Med 13:841-7. 2011
    ....
  75. doi request reprint Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore
    Jean Charles Hoda
    Department of Neuroscience, University of Geneva, CMU, 1, rue M Servet, CH 1211 Geneva 4, Switzerland
    Mol Pharmacol 74:379-91. 2008
    ....
  76. ncbi request reprint Gene duplication: a drive for phenotypic diversity and cause of human disease
    Bernard Conrad
    Department of Genetic Medicine and Development, University of Geneva Medical School and Geneva University Hospitals, CH 1211 Geneva 4, Switzerland
    Annu Rev Genomics Hum Genet 8:17-35. 2007
    ..Small genomic duplications containing defense-related genes also contribute to complex common phenotypes...
  77. pmc Mapping of small RNAs in the human ENCODE regions
    Christelle Borel
    Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva 1211, Switzerland
    Am J Hum Genet 82:971-81. 2008
    ..Notably, most of the remaining candidates showed a larger hybridizing band ( approximately 100 nt) that could be a microRNA precursor. The small RNA transcriptome is emerging as an important and abundant component of the genome function...
  78. pmc Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
    Lucia Bartoloni
    Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland
    Proc Natl Acad Sci U S A 99:10282-6. 2002
    ..We conclude that mutations in the coding region of DNAH11 account for situs inversus totalis and probably a minority of cases of PCD...
  79. ncbi request reprint Nineteen additional unpredicted transcripts from human chromosome 21
    Alexandre Reymond
    Division of Medical Genetics, University of Geneva Medical School, 1211 Geneva, Switzerland
    Genomics 79:824-32. 2002
    ....
  80. ncbi request reprint The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
    Michel Guipponi
    Division of Medical Genetics, University of Geneva Medical School, and Geneva University Hospitals, Switzerland
    Hum Mol Genet 11:2829-36. 2002
    ....
  81. 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
  82. ncbi request reprint The TPTE gene family: cellular expression, subcellular localization and alternative splicing
    Caroline Tapparel
    Division of Medical Genetics, Centre Medical Universitaire, University of Geneva Medical School, 1, Rue Michel Servet CH 1211, Geneva, Switzerland
    Gene 323:189-99. 2003
    ..Finally, we identify another expressed TPTE copy, mapping to human chromosome 22, whose transcription appears to be under the control of the LTR of human endogenous retrovirus RTVL-H3...
  83. ncbi request reprint The challenge of Down syndrome
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School, University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Trends Mol Med 12:473-9. 2006
    ..As a result, basic research on DS is now rapidly accelerating, and there is hope that the findings will be translatable into benefit for people with DS...
  84. pmc Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
    Robert Lyle
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals, 1211 Geneva, Switzerland
    Genome Res 17:1690-6. 2007
    ..The sequencing of the "heterochromatic" regions of the human genome is likely to reveal many additional functional elements and provide important evolutionary information...
  85. ncbi request reprint Genetic variability of mu-opioid receptor in an obstetric population
    Ruth Landau
    Division d Anesthésiologie, Departement of Anesthesiology, Pharmacology, and Surgical Intensive Care, Hopitaux Universitaires de Geneve, Geneva, Switzerland
    Anesthesiology 100:1030-3. 2004
  86. ncbi request reprint The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3
    Giuseppe Merla
    Department of Genetic Medicine and Development, University of Geneva Medical School, Switzerland
    Hum Mol Genet 13:1505-14. 2004
    ..This translocation is contingent upon the ability to bind 14-3-3. Through this mechanism the 14-3-3 isotypes directly affect the WBSCR14:Mlx complexes, which activate the transcription of lipogenic genes...
  87. ncbi request reprint FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
    Siv Fokstuen
    Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Geneva, Switzerland
    Am J Med Genet A 117:143-6. 2003
    ..As a consequence, FOXL2 mutation testing in female patients of child-bearing age with BPES should be handled with caution, and a two-step genetic counseling approach, including an initial pre-test information session, is proposed...
  88. pmc Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter
    Olivier Leupin
    Department of Genetic Medicine and Development, University of Geneva Medical School, CMU, 1211 Geneva, Switzerland
    EMBO Rep 6:956-60. 2005
    ..Transcriptional elongation over this class of intragenic promoters will generate co-regulated sense-antisense transcripts, or, alternatively initiating transcripts, thus expanding the diversity and complexity of the human transcriptome...