Research Topics
Genomes and Genes | Stylianos E AntonarakisSummaryAffiliation: University of Geneva Country: Switzerland Publications
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Publications
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....
Systems medicine and integrated care to combat chronic noncommunicable diseasesJean 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...- A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genesRossella 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... - From sequence to functional understanding: the difficult road aheadPeriklis 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... - Extensive natural variation for cellular hydrogen peroxide release is genetically controlledHoma Attar
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
PLoS ONE 7:e43566. 2012.... - 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... - DNA methylation profiles of human active and inactive X chromosomesAndrew 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... - Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblastsChristelle 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... - Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTBChristelle 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... - Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequencesDaniel 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... - Transcriptional and post-transcriptional profile of human chromosome 21Sergey 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... - Genomic determinants in the phenotypic variability of Down syndromeAudrey 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.... - Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert 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... - Assaying the regulatory potential of mammalian conserved non-coding sequences in human cellsCatia 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... - Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generationKaren 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... - Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15Andrew 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... 
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndromeSamuel 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...- Human chromosome 21 gene expression atlas in the mouseAlexandre 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... - Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmusUppala 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... - Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanomaSergey 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... - Functional genetic variation of human miRNAs and phenotypic consequencesChristelle 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... - A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locusMarc Friedli
Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, Geneva, Switzerland
PLoS ONE 5:e15741. 2010.... - Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencingSergey I Nikolaev
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
PLoS ONE 4:e6659. 2009.... - A recurrent 14q32.2 microdeletion mediated by expanded TGG repeatsFrederique Bena
Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
Hum Mol Genet 19:1967-73. 2010.... - Regulation of fibrinogen production by microRNAsAlexandre Fort
Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine, Geneva, Switzerland
Blood 116:2608-15. 2010.... - 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... - Early history of mammals is elucidated with the ENCODE multiple species sequencing dataSergey 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... - Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34Uppala 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... - MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous motherAlexandre 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... - Eye gaze during face processing in children and adolescents with 22q11.2 deletion syndromeBronwyn 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... - Mendelian disorders deserve more attentionStylianos 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... - 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 whitesSerge 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... - Chromosome 21 and down syndrome: from genomics to pathophysiologyStylianos 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... - Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndromeRobert 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... - 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 environmentEmmanouil 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... - Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatinOlivier 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... - Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone massSerge 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... - Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12Marc 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... - Chromosome 21: a small land of fascinating disorders with unknown pathophysiologyStylianos 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... - Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphaloceleUppala 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... - Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practiceSiv 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... - Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of eventsSophie Dahoun
Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
Am J Med Genet A 146:2086-93. 2008.... - Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signalingNathalie 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... - Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm laborRuth 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... - Gene expression variation and expression quantitative trait mapping of human chromosome 21 genesSamuel 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... - Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patientsMarie 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... - Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitroMarie 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... - The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal developmentOlivier 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... - Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalancePaola 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... - Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriersGabriel 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.... - A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomasSergey 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... - Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndromeMaude 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... - A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathySiv 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... - Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elementsSergey 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... - Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex developmentJérôme 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... - Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controlsPeriklis 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... - Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3Marc 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... - A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the proteinMarie Wattenhofer
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland
Hum Genet 117:528-35. 2005.... - Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinasesMiguel 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.... - Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the regionRobert 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... - Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genesKonstantin 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... - Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan 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.... - Mapping of small RNAs in the human ENCODE regionsChristelle 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... - Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel poreJean Charles Hoda
Department of Neuroscience, University of Geneva, CMU, 1, rue M Servet, CH 1211 Geneva 4, Switzerland
Mol Pharmacol 74:379-91. 2008.... - Gene duplication: a drive for phenotypic diversity and cause of human diseaseBernard 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... - The TPTE gene family: cellular expression, subcellular localization and alternative splicingCaroline 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... - The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3Giuseppe 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... - The challenge of Down syndromeStylianos 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... - Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardationArmand 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 - Nineteen additional unpredicted transcripts from human chromosome 21Alexandre Reymond
Division of Medical Genetics, University of Geneva Medical School, 1211 Geneva, Switzerland
Genomics 79:824-32. 2002.... - Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesiaLucia 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... - Genetic variability of mu-opioid receptor in an obstetric populationRuth Landau
, , Pharmacology, and Surgical Intensive Care, , Geneva, Switzerland
Anesthesiology 100:1030-3. 2004 - The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitroMichel Guipponi
Division of Medical Genetics, University of Geneva Medical School, and Geneva University Hospitals, Switzerland
Hum Mol Genet 11:2829-36. 2002.... - Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21Robert 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... - FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patientsSiv 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... - Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoterOlivier 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...