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Publications associées (149)

Defining the role of common variation in the genomic and biological architecture of adult human height

Jiancheng Yang, Murielle Bochud, Zhaoming Wang

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that th ...

Nature Publishing Group2014

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

Tatiana Favez

Objective To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. Design, setting and participa ...

Bmj Publishing Group2014

Complement Factor B Polymorphism and the Phenotype of Early Age-related Macular Degeneration

Purpose: Age-related macular degeneration (AMD) has been associated with a number of polymorphisms in genes in the complement pathway. We examined the potential genotype-phenotype correlation of complement factor B (CFB) (R32Q) polymorphisms in Caucasian p ...

Informa Healthcare2014

Riding the whole-genome data tsunami: a landscape genomic study of local adaptation in Moroccan sheep and goats

Stéphane Joost, Sylvie Stucki, Kevin Leempoel

In Morocco, like in other developing countries, small ruminants play an important role in the livelihood of a large proportion of farmers and landless shepherds. Conserving traditional breeds is essential in these countries since they are able to prosper i ...

2014

Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population

Johan Auwerx, Evan Graehl Williams, Adrienne Joëlle Laurence Mottis, Virginija Jovaisaite, Ruedi Aebersold, Sébastien Dubuis

The manner by which genotype and environment affect complex phenotypes is one of the fundamental questions in biology. In this study, we quantified the transcriptome--a subset of the metabolome--and, using targeted proteomics, quantified a subset of the li ...

Cell Press2014

Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

Bart Deplancke, David Hacker, Sebastian Martin Waszak, Sunil Kumar Raghav, Nouria Hernandez, Gilles Udin, Alisa Yurovsky, Julien Bryois, Sarah Thurnheer

DNA sequence variation has been associated with quantitative changes in molecular phenotypes such as gene expression, but its impact on chromatin states is poorly characterized. To understand the interplay between chromatin and genetic control of gene regu ...

American Association for the Advancement of Science2013

Rounding Up Natural Gene Expression Variation during Development

Bart Deplancke, Sebastian Martin Waszak

Molecular insights into the genetic control of development have been mainly derived from single gene mutant studies. Francesconi and Lehner (2013) report now in Nature a genome-wide map of natural sequence variants that affect the temporal expression dynam ...

Elsevier2013

Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/chondroitin sulfate proteoglycan 5

Pascal Escher

Purpose: To analyze in vivo the function of chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C (gene symbol: Cspg5) during retinal degeneration in the Rpe65(-/-) mouse model of Leber congenital amaurosis. ...

Molecular Vision2013

The Hourglass and the Early Conservation Models-Co-Existing Patterns of Developmental Constraints in Vertebrates

Pawel Lichocki

Developmental constraints have been postulated to limit the space of feasible phenotypes and thus shape animal evolution. These constraints have been suggested to be the strongest during either early or mid-embryogenesis, which corresponds to the early con ...

Public Library Science2013

Mycobacterium tuberculosis Requires Phosphate-Responsive Gene Regulation To Resist Host Immunity

John McKinney, Anna De Graff Tischler

Mycobacterium tuberculosis persists in the tissues of mammalian hosts despite inducing a robust immune response dominated by the macrophage-activating cytokine gamma interferon (IFN-gamma). We identified the M. tuberculosis phosphate-specific transport (Ps ...

American Society for Microbiology2013

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