Chercheur

    Damian Labuda , Ph.D.

    damian.labuda@umontreal.ca
    Damian Labuda
    Axe de recherche
    Maladies virales, immunitaires et cancers
    Thème de recherche
    Cancers : mécanismes génétiques et moléculaires et nouvelles thérapies
    Adresse
    CHUSJ - Centre de Recherche

    Téléphone
    514 345-4931 #3586

    Fax
    514 345-4731

    Titres

    • Professeur, Département de pédiatrie, Université de Montréal
    • Chercheur, Centre de recherche, CHU Sainte-Justine
    • Chercheur, Centre Robert-Cedergren en bioinformatique et génomique

    Formation

    • Études en biologie et biochimie (MSc – 1971, PhD – 1976 et diplôme d'études supérieures, DSc – 1982) à l’Université Adam Mickiewicz à Poznan, Pologne
    • Stages estudiantins au Centre d'Énergie Atomique à Saclay, en France (1971), au Centre d’Études Biologiques à Szeged, en Hongrie (1973) et études postdoctorales à l’Institut Max-Planck de chimie biophysique à Göttingen en Allemagne (1978-1982)

    Intérêts de recherche

    La diversité du génome humain et l’histoire génétique de populations humaines

    Nous étudions les profils de variabilité du génome humain compte tenu de leur importance en épidémiologie génétique et pour comprendre la structure et l’histoire du génome à l’échelle de notre espèce. Nous examinons la variabilité génétique de différentes populations humaines ainsi que les mécanismes génétiques et évolutionnaires impliqués pour mieux comprendre l’origine et l’histoire de notre espèce. En particulier, nos études portent sur la diversité des segments du chromosome X dans l’ensemble d’échantillons du monde entier. Pour ce faire, nous collaborons avec différents laboratoires et institutions. L’analyse des données pour inférer l’histoire de population est effectuée à l'aide de différents modèles et outils de génétique des populations et statistiques, incluant le modèle de coalescence. Dans nos démarches, nous profitons de plus en plus des résultats du génotypage massif et du reséquençage à grande échelle, qui sont généralement disponibles, pour enrichir nos données et étendre nos analyses. Nos projets combinent des travaux pratiques et des analyses formelles ou dépendent entièrement de données informatisés.

    L’évolution génomique et ses implications fonctionnelles

    Notre objectif est d’examiner les profils et les niveaux de diversité au long du génome pour mieux comprendre les mécanismes génétiques impliqués de la mutation et de la recombinaison, ainsi que l’effet différentiel de la démographie et de la sélection naturelle, afin d’utiliser ces connaissances dans l’identification de la variation fonctionnelle. Nous travaillons aussi sur des nouvelles approches visant l’analyse de profils de densité de recombinaison à l’échelle de la séquence. Nous développons des tests pour nous aider à cartographier des variants génétiques associés avec les débalancements alléliques (allelic imbalance) et la régulation de la transcription. Nous travaillons aussi sur les tests basés sur l’analyse de la distribution des classes alléliques des haplotypes, visant la détection des signatures de la sélection naturelle adaptative. Les statistiques proposées sont validées par des simulations de coalescence et avec les ensembles de données sur la variabilité du génome humain.

    L’histoire génétique et démographique de la population du Québec

    Pour comprendre l’histoire génétique et démographique des populations humaines, dès l’origine de l'Homo sapiens en Afrique, en passant par la colonisation des continents jusqu’aux populations contemporaines, nous devons aussi étudier des événements récents. Nous étudions donc différentes régions du Québec afin de caractériser des conséquences de migrations récentes, des effets fondateurs et de l’histoire démographique sur les profils de variation du génome. En parallèle, nous analysons des données génétiques sur les lignées parentales et les données résultant du génotypage du génome entier. Nous analysons l’effet de la démographie sur la structure génétique des populations, sur déséquilibre de liaison et nous interrogeons comment utiliser ces informations combinées en épidémiologie génétique dans la cartographie des traits complexes et mendéliens.

    Prix et distinctions

    • Bourses estudiantines de la Commission d’Énergie Nucléaire en France et de l’Académie des Sciences
    • Bourse postdoctorale de Max-Planck Gesellschaft en Allemagne
    • Prix annuels de recherche du recteur de l’Université de Poznan
    • Chercheur-boursier du FRSQ, senior 1 et 2

Publications

Genome-wide patterns of identity-by-descent sharing in the French Canadian founder population - Gauvin H, Moreau C, Lefebvre J-F, Laprise C, Vézina H, Labuda D, Roy-Gagnon M-H. Genome-wide patterns of identity-by-descent sharing in the French Canadian founder population. Eur J Hum Genet 2014; (sous presse).

X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations - Labuda D, Yotova V, Lefebvre J-F, Moreau C, Utermann G, Williams S. X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations. PLoS ONE 2013; 8(11): e80710.

Native American admixture in the Quebec founder population - Moreau C, Lefebvre J-F, Jomphe M, Bherer C, Ruiz-Linares A, Vézina H, Roy-Gagnon M-H, Labuda D. Native American admixture in the Quebec founder population. PLoS ONE 2013; 8(6): e65507.

Reconciling migration models to the Americas with the variation of North American native mitogenomes - Achilli A, Perego UA, Lancioni H, Olivieri A, Gandini F, Hooshiar Kashani B, Battaglia V, Grugni V, Angerhofer N, Rogers MP, Herrera R, Woodward SR, Labuda D, Smith DG, Cybulski JS, Semino O, Malhi RS, Torroni A. Reconciling migration models to the Americas with the variation of North American native mitogenomes. Proc Natl Acad Sci USA 2013; 110(35): 14308-14313.

Genotype-based test in mapping cis-regulatory variants from allele-specific expression data - Lefebvre J-F, Vello E, Ge B, Montgomery SB, Dermitzakis ET, Pastinen T, Labuda D. Genotype-based test in mapping cis-regulatory variants from allele-specific expression data. PLoS ONE 2012; 7(6): e38667.

L'apport des données génétiques à la mesure généalogique des origines amérindiennes des Québécois - Vézina H, Jomphe M, Lavoie EM, Moreau C, Labuda D. L'apport des données génétiques à la mesure généalogique des origines amérindiennes des Québécois. Cahiers Québécois de Démographie 2012; 41: 87-105.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population - Srour M, Schwartzentruber JA, Hamdan F, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Shevell MI, Laframboise R, Desilets V, FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet 2012; 90(4): 693-700.

Mutations in TMEM231 cause Joubert syndrome in French Canadians - Srour M, Hamdan F, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Desilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B, FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL. Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet 2012; 49(10): 636-641.

Reconstructing Native American population history - Reich D, Patterson N, Campbell D, Tandon A, Mazières S, Ray N, Parra MV, Rojas W, Duque C, Mesa N, García LF, Triana O, Blair S, Maestre A, Dib JC, Bravi CM, Bailliet G, Corach D, Hünemeier T, Bortolini M-C, Salzano FM, Petzl-Erler ML, Acuña-Alonzo V, Aguilar-Salinas C, Canizales-Quinteros S, Tusié-Luna T, Riba L, Rodríguez-Cruz M, Lopez-Alarcón M, Coral-Vazquez R, Canto-Cetina T, Silva-Zolezzi I, Fernandez-Lopez JC, Contreras AV, Jimenez-Sanchez G, Gómez-Vázquez MJ, Molina J, Carracedo A, Salas A, Gallo C, Poletti G, Witonsky DB, Alkorta-Aranburu G, Sukernik RI, Osipova LP, Fedorova SA, Vasquez R, Villena M, Moreau C, Barrantes R, Pauls DL, Excoffier L, Bedoya G, Rothhammer F, Dugoujon JM, Larrouy G, Klitz W, Labuda D, Kidd J, Kidd K, Di Rienzo A, Freimer NB, Price AL, Ruiz-Linares A. Reconstructing Native American population history. Nature 2012; 488(7411): 370-374.

Genomic and genealogical investigation of the French Canadian founder population structure - Roy-Gagnon M-H, Moreau C, Bherer C, St-Onge P, Sinnett D, Laprise C, Vézina H, Labuda D. Genomic and genealogical investigation of the French Canadian founder population structure. Hum Genet 2011; 129(5): 521-531.

An X-linked haplotype of Neandertal origin is present among all non-African populations - Yotova V, Lefebvre J-F, Moreau C, Gbeha E, Hovhannesyan K, Bourgeois S, Bédarida S, Azevedo L, Amorim A, Sarkisian MR, Avogbe PH, Chabi N, Dicko MH, Kou' Santa Amouzou ES, Sanni A, Roberts-Thomson J, Boettcher B, Scott RJ, Labuda D. An X-linked haplotype of Neandertal origin is present among all non-African populations. Mol Biol Evol 2011; 28(7): 1957-1962.

Admixed ancestry and stratification of Quebec regional populations - Bherer C, Labuda D, Roy-Gagnon M-H, Houde L, Tremblay M, Vézina H. Admixed ancestry and stratification of Quebec regional populations. Am J Phys Anthropol 2011; 144(3): 432-441.

When genetics and genealogies tell different stories-maternal lineages in Gaspesia - Moreau C, Vézina H, Jomphe M, Lavoie EM, Roy-Gagnon M-H, Labuda D. When genetics and genealogies tell different stories-maternal lineages in Gaspesia. Ann Hum Genet 2011; 75(2): 247-254.

Deep human genealogies reveal a selective advantage to be on an expanding wave front - Moreau C, Bherer C, Vézina H, Jomphe M, Labuda D, Excoffier L. Deep human genealogies reveal a selective advantage to be on an expanding wave front. Science 2011; 334(6059): 1148-1150.

Female-to-male breeding ratio in modern humans-an analysis based on historical recombinations - Labuda D, Lefebvre J-F, Nadeau P, Roy-Gagnon M-H. Female-to-male breeding ratio in modern humans-an analysis based on historical recombinations. Am J Hum Genet 2010; 86(3): 353-363.

Haplotype allelic classes for detecting ongoing positive selection - Hussin J, Nadeau P, Lefebvre J-F, Labuda D. Haplotype allelic classes for detecting ongoing positive selection. BMC Bioinformatics 2010; 11: 65 (on line).

Brief communication: patterns of linkage disequilibrium and haplotype diversity at Xq13 in six Native American populations - Wang S, Bedoya G, Labuda D, Ruiz-Linares A. Brief communication: patterns of linkage disequilibrium and haplotype diversity at Xq13 in six Native American populations. Am J Phys Anthropol 2010; 142(3): 476-480.

Contrasting patterns of nuclear and mtDNA diversity in Native American populations - Yang NN, Mazières S, Bravi C, Ray N, Wang S, Burley MW, Bedoya G, Rojas W, Parra MV, Molina JA, Gallo C, Poletti G, Hill K, Hurtado AM, Petzl-Erler ML, Tsuneto LT, Klitz W, Barrantes R, Llop E, Rothhammer F, Labuda D, Salzano FM, Bortolini M-C, Excoffier L, Dugoujon JM, Ruiz-Linares A. Contrasting patterns of nuclear and mtDNA diversity in Native American populations. Am J Hum Genet 2010; 74(6): 525-538.

Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications - Ballantyne KN, Goedbloed M, Fang R, Schaal JP, Lao O, Wollstein A, Choi Y, van Duijn K, Vermeulen M, Brauer S, Decorte R, Poetsch M, von Wurmb-Schwark N, de Knijff P, Labuda D, Vézina H, Knoblauch H, Lessig R, Roewer L, Ploski R, Dobosz T, Henke L, Henke J, Furtado MR, Kayser M. Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet 2010; 87(3): 341-353.

Robust hybridization-based genotyping probes for HPV 6, 11, 16 and 18 obtained via in vitro selection - Brukner I, Larose AM, Gorska-Flipot I, Krajinovic M, Labuda D. Robust hybridization-based genotyping probes for HPV 6, 11, 16 and 18 obtained via in vitro selection. J Nucleic Acids Invest 2010; 1(1): e3 (on line).

Genetic heterogeneity in regional populations of Quebec-Parental lineages in the Gaspe Peninsula - Moreau C, Vézina H, Yotova V, Hamon R, de Knijff P, Sinnett D, Labuda D. Genetic heterogeneity in regional populations of Quebec-Parental lineages in the Gaspe Peninsula. Am J Phys Anthropol 2009; 139(4): 512-522.

Functional impact of sequence variation in the promoter region of TGFB1 - Healy J, Dionne J, Bélanger H, Larivière M, Beaulieu P, Labuda D, Sinnett D. Functional impact of sequence variation in the promoter region of TGFB1. Int J Cancer 2009; 125(6): 1483-1489.

X-chromosome lineages and the settlement of the Americas - Bourgeois S, Yotova V, Wang S, Bourthoumieu S, Moreau C, Michalski R, Moisan J-P, Hill K, Hurtado AM, Ruiz-Linares A, Labuda D. X-chromosome lineages and the settlement of the Americas. Am J Phys Anthropol 2009; 140(3): 417-428.

Polymorphisms in multidrug resistance-associated protein gene 4 is associated with outcome in childhood acute lymphoblastic leukemia - Ansari M, Sauty G, Labuda D, Gagné V, Laverdière C, Moghrabi A, Sinnett D, Krajinovic M. Polymorphisms in multidrug resistance-associated protein gene 4 is associated with outcome in childhood acute lymphoblastic leukemia. Blood 2009; 114(7): 1383-1386.

Fraction of informative recombinations: a heuristic approach to analyze recombination rates - Lefebvre J-F, Labuda D. Fraction of informative recombinations: a heuristic approach to analyze recombination rates. Genetics 2008; 178(4): 2069-2079.

Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: Insights into Turkic population history - Gokcumen O, Dulik MC, Pai AA, Zhadanov SI, Rubinstein S, Osipova LP, Andreenkov OV, Tabikhanova LE, Gubina MA, Labuda D, Schurr TG. Genetic variation in the enigmatic Altaian Kazakhs of South-Central Russia: Insights into Turkic population history. Am J Phys Anthropol 2008; 136(3): 278-293.

Ethnic differences in the frequency of the cardioprotective C679X PCSK9 mutation in a West African population - Sirois F, Gbeha E, Sanni A, Chretien M, Labuda D, Mbikay M. Ethnic differences in the frequency of the cardioprotective C679X PCSK9 mutation in a West African population. Genet Test 2008; 12(3): 377-380.

Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection - Cruciani F, Trombetta B, Labuda D, Modiano D, Torroni A, Costa R, Scozzari R. Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection. Eur J Hum Genet 2008; 16(12): 1526-1534.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations - Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. J Med Genet 2008; 45(4): 200-209.

Newly-isolated HPV97, related to HPV18 and 45 is frequently detected in HIV-positive men from the montreal area - Gorska-Flipot I, Sawicki J, Krajinovic M, Labuda D, Brukner I, Rouleau D, Ghattas G, Franco E, Coutlée F. Newly-isolated HPV97, related to HPV18 and 45 is frequently detected in HIV-positive men from the montreal area. Int J Cancer 2008; 122(5): 1195-1197.

DNA variants in dihydrofolate reductase gene and outcome in childhood ALL - Dulucq S, St-Onge G, Gagné V, Ansari M, Sinnett D, Labuda D, Moghrabi A, Krajinovic M. DNA variants in dihydrofolate reductase gene and outcome in childhood ALL. Blood 2008; 111(7): 3692-3700.

Patterns of variation in DNA segments upstream of transcription start sites - Labuda D, Labbé C, Langlois S, Lefebvre J-F, Freytag V, Moreau C, Sawicki J, Beaulieu P, Pastinen T, Hudson TJ, Sinnett D. Patterns of variation in DNA segments upstream of transcription start sites. Hum Mutat 2007; 28(5): 441-450.

A protocol for the in vitro selection of specific oligonucleotide probes for high-resolution DNA typing - Brukner I, Krajinovic M, Dascal A, Labuda D. A protocol for the in vitro selection of specific oligonucleotide probes for high-resolution DNA typing. Nat Protoc 2007; 2(11): 2807-2814.

Tracing genetic history of modern humans using X-chromosome lineages - Yotova V, Lefebvre J-F, Kohany O, Jurka J, Michalski R, Modiano D, Utermann G, Williams S, Labuda D. Tracing genetic history of modern humans using X-chromosome lineages. Hum Genet 2007; 122(5): 431-443.

An in vitro selection scheme for oligonucleotide probes to discriminate between closely related DNA sequences - Brukner I, El-Ramahi R, Gorska-Flipot I, Krajinovic M, Labuda D. An in vitro selection scheme for oligonucleotide probes to discriminate between closely related DNA sequences. Nucleic Acids Res 2007; 35(9): e66.

Subcellular proteomics of cell differententiation: Quantitative analysis of the plasma membrane protein of Caco-2 cells - Pshezhetsky AV, Fediaev M, Ashmarina L, Mazur A, Budman L, Sinnett D, Labuda D, Beaulieu J-F, Ménard D, Nifantiev I, Levy E. Subcellular proteomics of cell differententiation: Quantitative analysis of the plasma membrane protein of Caco-2 cells. Proteomics 2007; 7(13): 2201-2215.

Hybridization assay performed at ambient temperature for typing high-risk human papillomaviruses - Brukner I, El-Ramahi R, Sawicki J, Gorska-Flipot I, Krajinovic M, Labuda D. Hybridization assay performed at ambient temperature for typing high-risk human papillomaviruses. J Clin Virol 2007; 39(2): 113-118.

[Founder effects and genetic variability in Quebec] - Moreau C, Vézina H, Labuda D. [Founder effects and genetic variability in Quebec]. Méd Sci (Paris) 2007; 23(11): 1008-1013.

Genetic variation and population structure in native Americans - Wang S, Lewis CM, Jakobsson M, Ramachandran V, Ray N, Bedoya G, Rojas W, Parra MV, Molina JA, Gallo C, Mazzotti G, Poletti G, Hill K, Hurtado AM, Labuda D, Klitz W, Barrantes R, Bortolini M-C, Salzano FM, Petzl-Erler ML, Tsuneto LT, Llop E, Rothhammer F, Excoffier L, Feldman MW, Rosenberg NA, Ruiz-Linares A. Genetic variation and population structure in native Americans. PLoS Genet 2007; 3(11): e185.

Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity - Fuselli S, Gilman RH, Chanock SJ, Bonatto SL, De Stefano G, Evans C, Labuda D, Luiselli D, Salzano FM, Soto G, Vallejo G, Sajantila A, Pettener D, Tarazona-Santo E. Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity. Pharmacogenomics J 2007; 7(2): 144-152.

Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia - Healy J, Bélanger H, Beaulieu P, Larivière M, Labuda D, Sinnett D. Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia. Blood 2007; 109(2): 683-692.

Challenges identifying genetic determinants of pediatric cancers - the childhood leukemia experience - Sinnett D, Labuda D, Krajinovic M. Challenges identifying genetic determinants of pediatric cancers - the childhood leukemia experience. Fam Cancer 2006; 5(1): 35-47.

Phi29-based amplification of small genomes - Brukner I, Labuda D, Krajinovic M. Phi29-based amplification of small genomes. Anal Biochem 2006; 354(1): 154-156.

Detection and characterization of DNA variants in the promoter regions of hundred of human diseases candidate genes - Sinnett D, Beaulieu P, Bélanger H, Lefebvre J-F, Langlois S, Théberge MC, Drouin S, Zotti C, Hudson T, Labuda D. Detection and characterization of DNA variants in the promoter regions of hundred of human diseases candidate genes. Genomics 2006; 87(6): 704-710.

Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate - Bedoya G, Montoya P, Garcia J, Soto I, Bourgeois S, Carvajal L, Labuda D, Alvarez V, Ospina J, Hedrick PW, Ruiz-Linares A. Admixture dynamics in Hispanics: a shift in the nuclear genetic ancestry of a South American population isolate. Proc Natl Acad Sci USA 2006; 103(19): 7234-7239.

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families - Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lépine J, Lesperance B, Ouellette G, Pichette R, Plante M, Tavtigian S, Simard J. Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families. BMC Cancer 2006; 6: 230.

[Genetic determinants of childhood leukemia] - Sinnett D, N'Diaye N, Labuda D, Krajinovic M. [Genetic determinants of childhood leukemia]. Bull Cancer 2006; 93(9): 857-865.

MTHFR genetic variants: an example of gene-nutrient interaction and susceptibility to childhood acute lymphoblastic leukemia - Sinnett D, Labuda D, Krajinovic M. MTHFR genetic variants: an example of gene-nutrient interaction and susceptibility to childhood acute lymphoblastic leukemia. Blood 2005; 106(7): 2590-2591.

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec - Yotova V, Labuda D, Zietkiewicz E, Gehl D, Lovell AD, Lefebvre J-F, Bourgeois S, Lemieux-Blanchard E, Labuda M, Vézina H, Houle L, Tremblay M, Toupance B, Heyer E, Hudson J, Laberge C. Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 2005; 117(2-3): 177-187.

Functional promoter SNPs in cell cycle checkpoint genes - Bélanger H, Beaulieu P, Moreau C, Labuda D, Hudson J, Sinnett D. Functional promoter SNPs in cell cycle checkpoint genes. Hum Mol Genet 2005; 14(18): 2641-2648.

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy - Duquette A, Rodier K, McNabb-Baltar Y, Gosselin I, St-Denis A, Dicaire MJ, Loisel L, Labuda D, Marchand L, Mathieu J, Bouchard J-P, Brais B. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Ann Neurol 2005; 57(3): 408-414.

A "Fille du Roy" Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians - Laberge AM, Jomphe M, Houle L, Vézina H, Tremblay M, Desjardins B, Labuda D, St-Hilaire M, Macmillan C, Shoubridge EA, Brais B. A "Fille du Roy" Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians. Am J Hum Genet 2005; 77(2): 313-317.

Ethiopia: between Sub-Saharan Africa and western Eurasia - Lovell AD, Moreau C, Yotova V, Xiao F, Bourgeois S, Gehl D, Bertrandpetit J, Schurr E, Labuda D. Ethiopia: between Sub-Saharan Africa and western Eurasia. Am J Hum Genet 2005; 69(Part 3): 275-287.

Genetic susceptibility to childhood acute lymphoblastic leukemia - Sinnett D, Meloche C, Labuda D, Mathonnet G, Moghrabi A, Sabbagh A, Infante-Rivard C, Krajinovic M. Genetic susceptibility to childhood acute lymphoblastic leukemia. Dans: Romero RM. Trends in Leukemia Research. New York. Nova Science Publishers, Inc., 2005; 1-31.

Self-priming arrest by modified random oligonucleotides facilitates the quality control of whole genome amplification - Brukner I, Paquin B, Belouchi M, Labuda D, Krajinovic M. Self-priming arrest by modified random oligonucleotides facilitates the quality control of whole genome amplification. Anal Biochem 2005; 339(2): 345-347.

A "Fille du Roy" Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians - Laberge AM, Jomphe M, Houde L, Vézina H, Tremblay M, Desjardins B, Labuda D, St-Hilaire M, Macmillan C, Shoubridge EA, Brais B. A "Fille du Roy" Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians. Am J Hum Genet 2005; 77(2): 313-317.

Allele specific oligonucleotide hybridization (ASO) - Labuda D, Krajinovic M, Bourgeois S. Allele specific oligonucleotide hybridization (ASO). Dans: Fuchs F, Podda M. Encyclopaedia of Diagnostic Genomics and Proteomics, volume 2. New York. Marcel Dekker, 2004; 38-41.

Dynamic allele-specific oligonucleotide hybridization on solid support - Bourgeois S, Labuda D. Dynamic allele-specific oligonucleotide hybridization on solid support. Anal Biochem 2004; 324(2): 309-311.

Haplotypes histories as pathways of recombinations - El-Mabrouk N, Labuda D. Haplotypes histories as pathways of recombinations. Bioinformatics 2004; 20(12): 1836-1841.

Human X-chromosomal lineages in Europe reveal Middle Eastern and Asiatic contacts - Xiao F, Yotova V, Zietkiewicz E, Lovell AD, Gehl D, Bourgeois S, Moreau C, Spanaki C, Plaitakis A, Moisan J-P, Labuda D. Human X-chromosomal lineages in Europe reveal Middle Eastern and Asiatic contacts. Eur J Hum Genet 2004; 12(4): 301-311.

Polymorphisms within a polymorphism: SNPs in and around a polymorphic Alu insertion in intron 44 of the human dystrophin gene - Lovell AD, Yotova V, Xiao F, Batzer M, Labuda D. Polymorphisms within a polymorphism: SNPs in and around a polymorphic Alu insertion in intron 44 of the human dystrophin gene. J Hum Genet 2004; 49(5): 269-272.

Role of MTHFR genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia - Krajinovic M, Lamothe S, Labuda D, Lemieux-Blanchard E, Théorêt Y, Moghrabi A, Sinnett D. Role of MTHFR genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia. Blood 2004; 103(1): 252-257.

Genetic diversity patterns in the SR-BI/II locus can be explained by a recent selective sweep - Le Jossec M, Wambach T, Labuda D, Sinnett D, Levy E. Genetic diversity patterns in the SR-BI/II locus can be explained by a recent selective sweep. Mol Biol Evol 2004; 21(4): 760-769.

A survey of genetic and epigenetic variation affecting human gene expression - Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl M-C, Naumova AK, Sinnett D, Hudson J. A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics 2004; 16(2): 184-193.

In vitro evolution of RNA aptamers recognizing carcinogenic aromatic amines - Brockstedt U, Uzarowska A, Montpetit A, Pfau W, Labuda D. In vitro evolution of RNA aptamers recognizing carcinogenic aromatic amines. Biochem Biophys Res Commun 2004; 313(4): 1004-1008.

Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern humans' diversity - Zietkiewicz E, Yotova V, Gehl D, Wambach T, Arrieta I, Batzer M, Cole D, Hechtman P, Kaplan F, Modiano D, Moisan J-P, Michalski R, Labuda D. Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern humans' diversity. Am J Hum Genet 2003; 73(6): 994-1015.

Pharmacogenetics of childhood acute lymphoblastic leukemia - Krajinovic M, Labuda D, Sinnett D. Pharmacogenetics of childhood acute lymphoblastic leukemia. Curr Pharmacogenomics 2003; 1: 87-100.

Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes - Mathonnet G, Labuda D, Meloche C, Wambach T, Krajinovic M, Sinnett D. Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes. J Hum Genet 2003; 48(12): 659-664.

Genetic determinants to childhood acute lymphoblastic leukemia - Sinnett D, Mathonnet G, Meloche C, Moghrabi A, Labuda D, Krajinovic M. Genetic determinants to childhood acute lymphoblastic leukemia. Dans: Pandalai SG (ed). Recent Research Developments in Haematology. India. Transworld Research Network, 2003; 135-154.

Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia - Mathonnet G, Krajinovic M, Labuda D, Sinnett D. Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia. Brit J Haematol 2003; 123(1): 45-48.

Prostate cancer susceptibility genes: lessions learned and challenges posed - Simard J, Dumont M, Labuda D, Sinnett D, Meloche C, El-Alfy MV, Berger L, Lees E, Labrie F, Tavtigian S. Prostate cancer susceptibility genes: lessions learned and challenges posed. Endocr-Relat Cancer 2003; 10(2): 225-259.

Characterization of the BclI polymorphism in the glucocorticoid receptor gene - Fleury I, Beaulieu P, Primeau M, Labuda D, Sinnett D, Krajinovic M. Characterization of the BclI polymorphism in the glucocorticoid receptor gene. Clin Chem 2003; 49(9): 1528-1531.

Human estrogen receptor Beta 548 is not a common variant in three distinct populations - Xu L, Pan-Hammarstrom Q, Forsti A, Hemminki K, Hammarstrom L, Labuda D, Gustafsson JA, Dahlman-Wright K. Human estrogen receptor Beta 548 is not a common variant in three distinct populations. Endocrinology 2003; 144(8): 3541-3546.

Y-chromosome evidence for differing ancient demographic histories in the Americas - Bortolini M-C, Salzano FM, Thomas MG, Stuart S, Nasanen SPK, Bau CHD, Hutz MH, Layrisse Z, Petzl-Erler ML, Tsuneto LT, Hill K, Hurtado AM, Castro-de-Guerra D, Torres MM, Groot H, Michalski R, Nymadawa P, Bedoya G, Bradman N, Labuda D, Ruiz-Linares A. Y-chromosome evidence for differing ancient demographic histories in the Americas. Am J Hum Genet 2003; 73(2): 524-539.

Parental genotypes in the risk of a complex disease - Labuda D, Krajinovic M, Sabbagh A, Infante-Rivard C, Sinnett D. Parental genotypes in the risk of a complex disease. Am J Hum Genet 2002; 71(1): 193-197.

Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia - Krajinovic M, Labuda D, Mathonnet G, Labuda M, Moghrabi A, Champagne J, Sinnett D. Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia. Clin Cancer Res 2002; 8(3): 802-810.

Glutathione-S-Transferase P1 genetic polymorphisms and susceptibility to childhood acute lymphoblastic leukemia - Krajinovic M, Labuda D, Sinnett D. Glutathione-S-Transferase P1 genetic polymorphisms and susceptibility to childhood acute lymphoblastic leukemia. Pharmacogenetics 2002; 12(8): 655-658.

Role of NQO1, MPO and CYP2E1 genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia - Krajinovic M, Sinnett H, Richer C, Labuda D, Sinnett D. Role of NQO1, MPO and CYP2E1 genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia. Int J Cancer 2002; 97(2): 230-236.

Childhood acute lymphoblastic leukemia associated with parental alcohol consumption and polymorphisms of carcinogen-metabolizing genes - Infante-Rivard C, Krajinovic M, Labuda D, Sinnett D. Childhood acute lymphoblastic leukemia associated with parental alcohol consumption and polymorphisms of carcinogen-metabolizing genes. Epidemiology 2002; 13(3): 277-281.

Analyses of bulky DNA adduct levels in human breast tissue and genetic polymorphisms of cytochromes P450 (CYPs), myeloperoxidase (MPO), quinone oxidoreductase (NQO1) and glutathione S-transferases (GSTs) - Brockstedt U, Krajinovic M, Richer C, Mathonnet G, Sinnett D, Pfau W, Labuda D. Analyses of bulky DNA adduct levels in human breast tissue and genetic polymorphisms of cytochromes P450 (CYPs), myeloperoxidase (MPO), quinone oxidoreductase (NQO1) and glutathione S-transferases (GSTs). Mutat Res 2002; 516(1-2): 41-47.

Assessing DNA sequence variations in human ESTs in a phylogenetic context using high-density oligonucleotide arrays - Fan J-B, Gehl D, Hsie L, Shen N, Lindblad-Toh K, Laviolette J-P, Robinson E, Lipshutz R, Wang D, Hudson TJ, Labuda D. Assessing DNA sequence variations in human ESTs in a phylogenetic context using high-density oligonucleotide arrays. Genomics 2002; 80(3): 351-360.

Childhood acute lymphoblastic leukemia: genetic determinants of susceptibility and disease outcome - Krajinovic M, Labuda D, Sinnett D. Childhood acute lymphoblastic leukemia: genetic determinants of susceptibility and disease outcome. Rev Environ Health 2001; 16(4): 263-279.

Modern human origins in light of the nuclear DNA diversity in world populations - Zietkiewicz E, Labuda D. Modern human origins in light of the nuclear DNA diversity in world populations. Dans: Donnelly P, Foley RA (eds). Genes, Fossils and Behaviour: an Integrated Approach to Human Evolution. Amsterdam. IOS Press, 2001; 79-97.

Genetic susceptibility to breast cancer in French-Canadians: role of carcinogen-metabolizing enzymes and gene-environment interactions - Krajinovic M, Ghadirian P, Richer C, Sinnett H, Gandini S, Perret C, Lacroix A, Labuda D, Sinnett D. Genetic susceptibility to breast cancer in French-Canadians: role of carcinogen-metabolizing enzymes and gene-environment interactions. Int J Cancer 2001; 92(2): 220-225.

Phylogenetic and familial estimates in mitochondrial substitution rates: study of control region mutations in deep rooting pedigrees - Heyer E, Zietkiewicz E, Rochowski A, Yotova V, Puymirat J, Labuda D. Phylogenetic and familial estimates in mitochondrial substitution rates: study of control region mutations in deep rooting pedigrees. Am J Hum Genet 2001; 69(5): 1113-1126.

Archaic lineages in the history of modern humans - Labuda D, Zietkiewicz E, Yotova V. Archaic lineages in the history of modern humans. Genetics 2000; 156: 799-808.

The Genetic history of human populations - Labuda D. The Genetic history of human populations. Topical Endocrinol 2000; 7: 4-6.

The Friedreich Ataxia GAA repeat: a sub-Saharan African origin for long normal alleles and an Indo-European/Afro-Asiatic origin for expansions - Labuda M, Labuda D, Miranda C, Poirier J, Soong BW, Barucha NE, Pandolfo M. The Friedreich Ataxia GAA repeat: a sub-Saharan African origin for long normal alleles and an Indo-European/Afro-Asiatic origin for expansions. Neurology 2000; 54(12): 2322-2324.

Evolutionary inventions and continuity of CORE-SINEs in mammals - Gilbert N, Labuda D. Evolutionary inventions and continuity of CORE-SINEs in mammals. J Mol Biol 2000; 298(3): 365-377.

Parental smoking, CYP1A1 genetic polymorphisms and childhood leukemia (Quebec, Canada) - Infante-Rivard C, Krajinovic M, Labuda D, Sinnett D. Parental smoking, CYP1A1 genetic polymorphisms and childhood leukemia (Quebec, Canada). Cancer Causes Control 2000; 11(6): 547-553.

Genetic polymorphisms of N-acetyltransferases 1 (NAT1) and 2 (NAT2) and gene-gene interaction in the susceptibility to childhood acute lymphoblastic leukemia - Krajinovic M, Richer C, Sinnett H, Labuda D, Sinnett D. Genetic polymorphisms of N-acetyltransferases 1 (NAT1) and 2 (NAT2) and gene-gene interaction in the susceptibility to childhood acute lymphoblastic leukemia. Cancer Epidemiol Biomarmarkers Prev 2000; 9(6): 557-562.

Genetic susceptibility to childhood acute lymphoblastic leukemia - Sinnett D, Krajinovic M, Labuda D. Genetic susceptibility to childhood acute lymphoblastic leukemia. Leuk Lymphoma 2000; 38(5-6): 447-462.

Rapid detection of CYP1A1, CYP2D6 and NAT2 variants by multiplex-PCR and allele-specific oligonucleotide assay - Labuda D, Krajinovic M, Richer C, Skoll A, Yotova V, Sinnett D. Rapid detection of CYP1A1, CYP2D6 and NAT2 variants by multiplex-PCR and allele-specific oligonucleotide assay. Anal Biochem 1999; 275: 84-92.

Susceptibility to childhood acute lymphoblastic leukaemia: Influence of CYP1A1, CYP2D6, GSTM1 and GSTT1 genetic polymorphisms - Krajinovic M, Labuda D, Richer C, Karimi S, Sinnett D. Susceptibility to childhood acute lymphoblastic leukaemia: Influence of CYP1A1, CYP2D6, GSTM1 and GSTT1 genetic polymorphisms. Blood 1999; 93: 1496-1501.

Risk of childhood leukemia: risk associated with exposure to pesticides and with gene polymorphisms - Infante-Rivard C, Labuda D, Krajinovic M, Sinnett D. Risk of childhood leukemia: risk associated with exposure to pesticides and with gene polymorphisms. Epidemiology 1999; 10: 481-487.

CORE-SINEs: Eukaryotic short interspersed retroposing elements with common sequence motif - Gilbert N, Labuda D. CORE-SINEs: Eukaryotic short interspersed retroposing elements with common sequence motif. Proc Natl Acad Sci USA 1999; 96: 2869-2874.

Spatial and temporal distribution of the neutral polymorphisms in the ZFX gene: analysis of the haplotype structure and genealogy - Jaruzelska J, Zietkiewicz E, Batzer MA, Cole D, Moisan J-P, Scozzari R, Tavaré S, Labuda D. Spatial and temporal distribution of the neutral polymorphisms in the ZFX gene: analysis of the haplotype structure and genealogy. Genetics 1999; 152: 1091-1101.

Is selection responsible for the low level of variation in the last intron of the ZFY locus? - Jaruzelska J, Zietkiewicz E, Labuda D. Is selection responsible for the low level of variation in the last intron of the ZFY locus?. Mol Biol Evol 1999; 16: 1633-1640.

Phylogenetic affinities of tarsier in the context of primated Alu repeats - Zietkiewicz E, Richer C, Labuda D. Phylogenetic affinities of tarsier in the context of primated Alu repeats. Mol Phylogenet Evol 1999; 11: 77-83.

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and HMSH3 in sporatic breast cancer - Benachenhou N, Guiral S, Gorska-Flipot I, Labuda D, Sinnett D. Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and HMSH3 in sporatic breast cancer. Brit J Cancer 1999; 79(7/8): 1012-1017.

Allelic instability of TBP gene in RER+tumors - Benachenhou N, Labuda D, Sinnett D. Allelic instability of TBP gene in RER+tumors. Int J Cancer 1998; 78: 525-526.

Isochore distribution of the mammalian-wide interspersed repeats (MIRs) in the human genome - Matassi G, Labuda D, Bernardi G. Isochore distribution of the mammalian-wide interspersed repeats (MIRs) in the human genome. FEBS Lett 1998; 439: 63-65.

Allelic losses and DNA methylation at DNA mismatch-repair loci in sporadic colorectal cancer - Benachenhou N, Guiral S, Gorska-Flipot I, Michalski R, Labuda D, Sinnett D. Allelic losses and DNA methylation at DNA mismatch-repair loci in sporadic colorectal cancer. Carcinogenesis 1998; 19(11): 1925-1929.

Genomic loci susceptible to replication errors in cancer cells - Krajinovic M, Richer C, Gorska-Flipot I, Gaboury L, Novakovic I, Labuda D, Sinnett D. Genomic loci susceptible to replication errors in cancer cells. Brit J Cancer 1998; 78(8): 981-985.

Genetic structure of the ancestral population of modern humans - Zietkiewicz E, Yotova V, Jarnik M, Korab-Laskowska M, Kidd KK, Modiano D, Scozzari R, Tishkoff S, Batzer MA, Labuda D. Genetic structure of the ancestral population of modern humans. J Mol Evol 1998; 47: 146-155.

Chromosomal assignment of loci susceptible to replication errors by radiation hybrid mapping - Krajinovic M, Richer C, Lukovic L, Labuda D, Sinnett D. Chromosomal assignment of loci susceptible to replication errors by radiation hybrid mapping. Mutat Res Genomics 1998; 382: 81-83.

High resolution deletion mapping reveals frequent allelic losses at the DNA mismatch repair loci hMLH1 and hMSH3 in non-small cell lung cancer - Benachenhou N, Guiral S, Gorska-Flipot I, Labuda D, Sinnett D. High resolution deletion mapping reveals frequent allelic losses at the DNA mismatch repair loci hMLH1 and hMSH3 in non-small cell lung cancer. Int J Cancer 1998; 77: 173-180.

Monophyletic origin of Alu elements in primates - Zietkiewicz E, Richer C, Sinnett D, Labuda D. Monophyletic origin of Alu elements in primates. J Mol Evol 1998; 47(2): 172-182.

The genetic clock and the age of the founder effect in growing populations: A lesson from French Canadians and Ashkenazim - Labuda D, Zietkiewicz E, Labuda M. The genetic clock and the age of the founder effect in growing populations: A lesson from French Canadians and Ashkenazim. Am J Hum Genet 1997; 61: 768-771.

Nuclear DNA diversity in worldwide distributed human populations - Zietkiewicz E, Yotova V, Jarnik M, Korab-Laskowska M, Kidd KK, Modiano D, Scozzari R, Tishkoff S, Batzer MA, Labuda D. Nuclear DNA diversity in worldwide distributed human populations. Gene 1997; 205: 161-171.

mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool - Scozzari R, Cruciani F, Santolamazza P, Sellitto D, Cole D, Labuda D, Marini E, Succa V, Vona G, Torroni A. mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool. Am J Hum Genet 1997; 60: 241-244.

Structure et dynamisme du génome humain - Labuda D, Sinnett D. Structure et dynamisme du génome humain. Le Médecin du Québec 1996; 31: 29-33.

Linkage disequilibrium analysis in young populations: pseudovitamin D dependency rickets (PDDR) and the founder effect in French-Canadians - Labuda M, Labuda D, Korab-Laskowska M, Cole D, Zietkiewicz E, Weissenbach J, Popowska E, Pronicka E, Root AW, Glorieux F. Linkage disequilibrium analysis in young populations: pseudovitamin D dependency rickets (PDDR) and the founder effect in French-Canadians. Am J Hum Genet 1996; 59: 633-643.

Mosaic evolution of rodent B1 elements - Zietkiewicz E, Labuda D. Mosaic evolution of rodent B1 elements. J Mol Evol 1996; 42: 66-72.

Detection of a mutator phenotype in cancer cells by inter-Alu PCR - Krajinovic M, Richer C, Labuda D, Sinnett D. Detection of a mutator phenotype in cancer cells by inter-Alu PCR. Cancer Res 1996; 56: 2733-2737.

Overall informativity, OI, in DNA polymorphisms revealed by inter-ALU PCR. Detection of genomic rearrangements - Jarnik M, Tang J, Korab-Laskowska M, Zietkiewicz E, Cardinal G, Gorska-Flipot I, Sinnett D, Labuda D. Overall informativity, OI, in DNA polymorphisms revealed by inter-ALU PCR. Detection of genomic rearrangements. Genomics 1996; 36: 388-398.

Complementary DNA for 12-kilodalton B-cell growth factor: misassigned - Zietkiewicz E, Makalowski W, Mitchell GA, Labuda D. Complementary DNA for 12-kilodalton B-cell growth factor: misassigned. Science 1996; 274: 631.

Standardized nomenclature for Alu repeats - Batzer MA, Deininger PL, Hellmann-Blumberg U, Jurka J, Labuda D, Rubin CM, Schmid CW, Zietkiewicz E, Zuckerlandl E. Standardized nomenclature for Alu repeats. J Mol Evol 1996; 42: 3-6.

Lipid processing and lipoprotein synthesis by the developping human fetal colon - Levy E, Loirdighi N, Thibault L, Nguyen TD, Labuda D, Delvin EE, Ménard D. Lipid processing and lipoprotein synthesis by the developping human fetal colon. Am J Physiol 1996; 270: G813-G820.

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