Association of ABCB1genetic variants with renal function in Africans and in Caucasians (2008)
Bochud, Murielle, Eap, Chin B, Maillard, Marc, Johnson, Toby, Vollenweider, Peter, Bovet, Pascal, ...
Abstract Background The P-glycoprotein, encoded by the ABCB1 gene, is expressed in human endothelial and mesangial cells, which contribute to control renal plasma flow and glomerular filtration rate....
Common variants near MC4R are associated with fat mass, weight and risk of obesity (2008)
Loos, Ruth J.F., Lindgren, Cecilia M., Li, Shengxu, Wheeler, Eleanor, Zhao, Jing Hua, Prokopenko, Inga, ...
To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the...
BIOINFORMATICS APPLICATIONS NOTE Structural bioinformatics (2008)
Jaime Prilusky, Clifford E. Felder, Tzviya Zeev-ben-mordehai, Edwin H. Rydberg, Orna Man, Jacques S. Beckmann, ...
Vol. 21 no. 16 2005, pages 3435–3438 doi:10.1093/bioinformatics/bti537 FoldIndex © : a simple tool to predict whether a given protein sequence is intrinsically unfolded
In Vitro Whole-Genome Analysis Identifies a Susceptibility Locus for HIV-1 (2008)
Corinne Loeuillet, Samuel Deutsch, Angela Ciuffi, Daniel Robyr, Patrick Taffé, Miguel Muñoz, ...
Advances in large-scale analysis of human genomic variability provide unprecedented opportunities to study the genetic basis of susceptibility to infectious agents. We report here the use of an in...
Association of ABCB1 genetic variants with renal function in Africans and in Caucasians. (2008)
Bochud, Murielle, Eap, Chin B, Maillard, Marc, Johnson, Toby, Vollenweider, Peter, Bovet, Pascal, ...
ABSTRACT: BACKGROUND: The P-glycoprotein, encoded by the ABCB1 gene, is expressed in human endothelial and mesangial cells, which contribute to control renal plasma flow and glomerular filtration...
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations (2008)
Frio, Thomas Rio, Civic, Natacha, Ransijn, Adriana, Beckmann, Jacques S., Rivolta, Carlo
Dominant mutations in the gene encoding the ubiquitously-expressed splicing factor PRPF31 cause retinitis pigmentosa, a form of hereditary retinal degeneration, with reduced penetrance. We and others...
Kazadi, Kayole, Loeuillet, Corinne, Deutsch, Samuel, Ciuffi, Angela, Muñoz, Miguel, Beckmann, Jacques S., ...
Variation in cellular gene expression levels has been shown to be inherited. Expression is controlled at transcriptional and post-transcriptional levels. Internal ribosome entry sites (IRES) are used...
Computational Problems in Perfect Phylogeny Haplotyping: Xor-Genotypes and Tag SNPs (2007)
Tag Snps, Tamar Barzuza, Jacques S. Beckmann, Itsik Pe'er, Ron Shamir
The perfect phylogeny model for haplotype evolution has been successfully applied to haplotype resolution from genotype data. In this study we explore the application of the perfect phylogeny model...
Prilusky, Jaime, Felder, Clifford E., Rydberg, Edwin H., Man, Orna, Beckmann, Jacques S., ...
Summary: An easy-to-use, versatile and freely available graphic web server, FoldIndex© is described: it predicts if a given protein sequence is intrinsically unfolded implementing the algorithm of...
Prilusky, Jaime, Felder, Clifford E., Rydberg, Edwin, Man, Orna, Beckmann, Jacques S., ...
An easy-to-use, versatile and freely available graphic web server, FoldIndex© is described: it predicts if a given protein sequence is intrinsically unfolded implementing the algorithm of Uversky...
Fougerousse, Francoise, Bullen, Philip, Herasse, Muriel, Lindsay, Susan, Richard, Isabelle, Wilson, David, ...
Our understanding of early human development has been impeded by the general difficulty in obtaining suitable samples for study. As a result, and because of the extraordinarily high degree of...
Disease taxonomy - monogenic muscular dystrophy (1999)
The field of the autosomal recessive progressive muscular dystrophies has clarified significantly following the recent elucidation of the genetic and molecular etiology of a number of these entities....
Chiannilkulchal, Nuchanard, Pasturaud, Patricia, Richard, Isabelle, Auffray, Charles, Beckmann, Jacques S.
Previous genetic and physical studies of LGMD2A, an autosomal recessive form of limb-girdle muscular dystrophy, have led to the establishment of a 10–12 Mb YAC contig encompassing the morbid locus....
Fuchshuber, Arno, Jean, Genevievè, Gribouval, Olivler, Gubler, Marie-Claire, Broyer, Michel, Beckmann, Jacques S., ...
Idiopathic nephrotic syndrome (INS) in childhood is characterized by massive proteinuria and minimal glomerular changes. Most patients with INS respond to steroid therapy. INS is generally regarded...
Beckmann, Jacques S., Tomfohrde, James, Barnes, Robert I., Williams, Michele, Broux, Odlle, Richard, Isabelle, ...
We have constructed a 2.0 centiMorgan (cM) resolution genetic linkage map for chromosome 15q that contains 55 polymorphic satellites and 3 RFLPs that have placed on the map with odds for order of at...
Dinucleotide repeat polymorphism at the locus D15S222 (1993)
Fougerousse, Francoise, Pasturaud, Patricia, Beckmann, Jacques S.
Richard, Isabelle, Broux, Odile, Hillaire, Dominique, Cherif, Dorra, Fougerousse, Françoise, Cohen, Daniel, ...
Limb-Girdle Muscular Dystrophy (LGMD) is a myopathy with clinical and transmission heterogeneity. The recessive form, LGMD2, has been recently mapped by linkage analysis to 15q (1). As an attempt to...
Isolation and nucleotide sequence of a plant tRNA gene: petunia asparagine tRNA (1983)
Bawnik, Nurit, Beckmann, Jacques S., Sarid, Sara, Daniel, Violet
A 14.3 kb petunia genomic DNA fragment was isolated and found to contain a single tRNA gene coding for asparagine tRNA. The nucleotide sequence of the asparagine tRNA gene and its flanking regions...
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis
Barbieri, Anna Maria, Lupo, Giuseppe, Bulfone, Alessandro, Andreazzoli, Massimiliano, Mariani, Margherita, Fougerousse, Francoise, ...
We have identified a transcription factor specifically expressed in the developing vertebrate eye. We named this gene vax2 because of the high degree of sequence similarity to the recently described...
Herasse, Muriel, Ono, Yasuko, Fougerousse, Françoise, Kimura, Ei-ichi, Stockholm, Daniel, Beley, Cyriaque, ...
Calpain 3 is a nonlysosomal cysteine protease whose biological functions remain unknown. We previously demonstrated that this protease is altered in limb girdle muscular dystrophy type 2A patients....
In Vitro TRANSCRIPTION OF A TRANSFER RNA GENE*
Daniel, Violet, Sarid, Sara, Beckmann, Jacques S., Littauer, Uriel Z.
The Escherichia coli tRNATyr gene carried by the ϕ80psu3 + transducing phage was transcribed in vitro by DNA-dependent RNA polymerase. The enzymatically synthesized tRNATyr-like polynucleotide...
Purification and In Vitro Transcription of a Transfer RNA Gene
Daniel, Violet, Beckmann, Jacques S., Sarid, Sara, Grimberg, Jacob I., Herzberg, Max, Littauer, Uriel Z.
A gene specifying tyrosine transfer RNA has been purified and transcribed in vitro. The purification procedure made use of two specialized transducing phages carrying the tRNATyr gene of Escherichia...
Bleiber, Gabriela, May, Margaret, Martinez, Raquel, Meylan, Pascal, Ott, Jürg, Beckmann, Jacques S., ...
Humans differ substantially with respect to susceptibility to human immunodeficiency virus type 1 (HIV-1). We evaluated variants of nine host genes participating in the viral life cycle for their...
Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel
Topçu, Meral, Gartioux, Corine, Ribierre, Florence, Yalçinkaya, Cengiz, Tokus, Erem, Öztekin, Nese, ...
The leukodystrophies form a complex group of orphan genetic disorders that primarily affect myelin, the main constituent of the brain white matter. Among the leukodystrophies of undetermined...
Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44
Cuisset, Laurence, Drenth, Joost P. H., Berthelot, Jean-Marie, Meyrier, Alain, Vaudour, Gérard, Watts, Richard A., ...
The Muckle-Wells syndrome (MWS) is a hereditary inflammatory disorder characterized by acute febrile inflammatory episodes comprising abdominal pain, arthritis, and urticaria. Progressive nerve...
Pe'er, Itsik, Beckmann, Jacques S
Prospects for large-scale association studies rely on economical methods and powerful analysis. Representing available SNPs by small subsets and measuring allele frequencies on pooled DNA samples...
Speer, Marcy C., Yamaoka, Larry H., Gilchrist, James H., Gaskell, C. P., Stajich, Jeffrey M., Vance, Jeffery M., ...
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families...
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis
Barbieri, Anna Maria, Lupo, Giuseppe, Bulfone, Alessandro, Andreazzoli, Massimiliano, Mariani, Margherita, Fougerousse, Francoise, ...
We have identified a transcription factor specifically expressed in the developing vertebrate eye. We named this gene vax2 because of the high degree of sequence similarity to the recently described...
Herasse, Muriel, Ono, Yasuko, Fougerousse, Françoise, Kimura, Ei-ichi, Stockholm, Daniel, Beley, Cyriaque, ...
Calpain 3 is a nonlysosomal cysteine protease whose biological functions remain unknown. We previously demonstrated that this protease is altered in limb girdle muscular dystrophy type 2A patients....
In Vitro TRANSCRIPTION OF A TRANSFER RNA GENE*
Daniel, Violet, Sarid, Sara, Beckmann, Jacques S., Littauer, Uriel Z.
The Escherichia coli tRNATyr gene carried by the ϕ80psu3 + transducing phage was transcribed in vitro by DNA-dependent RNA polymerase. The enzymatically synthesized tRNATyr-like polynucleotide...
A Highly Significant Association between a COMT Haplotype and Schizophrenia
Shifman, Sagiv, Bronstein, Michal, Sternfeld, Meira, Pisanté-Shalom, Anne, Lev-Lehman, Efrat, Weizman, Avraham, ...
Several lines of evidence have placed the catechol-O-methyltransferase (COMT) gene in the limelight as a candidate gene for schizophrenia. One of these is its biochemical function in metabolism of...
Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1
Dgany, Orly, Avidan, Nili, Delaunay, Jean, Krasnov, Tatyana, Shalmon, Lea, Shalev, Hanna, ...
Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red-blood-cell disorders associated with dysplastic changes in late erythroid precursors. CDA type I (CDAI [MIM...
Purification and In Vitro Transcription of a Transfer RNA Gene
Daniel, Violet, Beckmann, Jacques S., Sarid, Sara, Grimberg, Jacob I., Herzberg, Max, Littauer, Uriel Z.
A gene specifying tyrosine transfer RNA has been purified and transcribed in vitro. The purification procedure made use of two specialized transducing phages carrying the tRNATyr gene of Escherichia...
Nakabayashi, Kazuhiko, Amann, Daniela, Ren, Yan, Saarialho-Kere, Ulpu, Avidan, Nili, Gentles, Simone, ...
We have identified C7orf11, which localizes to the nucleus and is expressed in fetal hair follicles, as the first disease gene for nonphotosensitive trichothiodystrophy (TTD). C7orf11 maps to...
Bleiber, Gabriela, May, Margaret, Martinez, Raquel, Meylan, Pascal, Ott, Jürg, Beckmann, Jacques S., ...
Humans differ substantially with respect to susceptibility to human immunodeficiency virus type 1 (HIV-1). We evaluated variants of nine host genes participating in the viral life cycle for their...
Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel
Topçu, Meral, Gartioux, Corine, Ribierre, Florence, Yalçinkaya, Cengiz, Tokus, Erem, Öztekin, Nese, ...
The leukodystrophies form a complex group of orphan genetic disorders that primarily affect myelin, the main constituent of the brain white matter. Among the leukodystrophies of undetermined...
Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44
Cuisset, Laurence, Drenth, Joost P. H., Berthelot, Jean-Marie, Meyrier, Alain, Vaudour, Gérard, Watts, Richard A., ...
The Muckle-Wells syndrome (MWS) is a hereditary inflammatory disorder characterized by acute febrile inflammatory episodes comprising abdominal pain, arthritis, and urticaria. Progressive nerve...
Pe'er, Itsik, Beckmann, Jacques S
Prospects for large-scale association studies rely on economical methods and powerful analysis. Representing available SNPs by small subsets and measuring allele frequencies on pooled DNA samples...
Speer, Marcy C., Yamaoka, Larry H., Gilchrist, James H., Gaskell, C. P., Stajich, Jeffrey M., Vance, Jeffery M., ...
Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families...
A unique set of SH3–SH3 interactions controls IB1 homodimerization
Kristensen, Ole, Guenat, Sylvie, Dar, Imran, Allaman-Pillet, Nathalie, Abderrahmani, Amar, Ferdaoussi, Mourad, ...
Islet-brain 1 (IB1 or JIP-1) is a scaffold protein that interacts with components of the c-Jun N-terminal kinase (JNK) signal-transduction pathway. IB1 is expressed at high levels in neurons and in...
Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Richard, Isabelle, Fardeau, Michel, Tomé, Fernando M. S., ...
Monoclonal antibodies were raised to two regions of calpain 3 (muscle-specific calcium-activated neutral protease), which is the product of the gene that is defective in limb-girdle muscular...
In Vitro Whole-Genome Analysis Identifies a Susceptibility Locus for HIV-1
Loeuillet, Corinne, Deutsch, Samuel, Ciuffi, Angela, Robyr, Daniel, Taffé, Patrick, Muñoz, Miguel, ...
Advances in large-scale analysis of human genomic variability provide unprecedented opportunities to study the genetic basis of susceptibility to infectious agents. We report here the use of an in...
Rio Frio, Thomas, Wade, Nicholas M., Ransijn, Adriana, Berson, Eliot L., Beckmann, Jacques S., Rivolta, Carlo
Dominant mutations in the gene encoding the mRNA splicing factor PRPF31 cause retinitis pigmentosa, a hereditary form of retinal degeneration. Most of these mutations are characterized by DNA changes...
Richard, Isabelle, Roudaut, Carinne, Marchand, Sylvie, Baghdiguian, Stephen, Herasse, Muriel, Stockholm, Daniel, ...
Calpain 3 is known as the skeletal muscle–specific member of the calpains, a family of intracellular nonlysosomal cysteine proteases. It was previously shown that defects in the human calpain 3...
Association of ABCB1 genetic variants with renal function in Africans and in Caucasians
Bochud, Murielle, Eap, Chin B, Maillard, Marc, Johnson, Toby, Vollenweider, Peter, Bovet, Pascal, ...
Fukada, Toshiyuki, Civic, Natacha, Furuichi, Tatsuya, Shimoda, Shinji, Mishima, Kenji, Higashiyama, Hiroyuki, ...
Fukada, Toshiyuki, Civic, Natacha, Furuichi, Tatsuya, Shimoda, Shinji, Mishima, Kenji, Higashiyama, Hiroyuki, ...
Kazadi, Kayole, Loeuillet, Corinne, Deutsch, Samuel, Ciuffi, Angela, Muñoz, Miguel, Beckmann, Jacques S., ...
Variation in cellular gene expression levels has been shown to be inherited. Expression is controlled at transcriptional and post-transcriptional levels. Internal ribosome entry sites (IRES) are used...
Kolz, Melanie, Johnson, Toby, Sanna, Serena, Teumer, Alexander, Vitart, Veronique, Perola, Markus, ...
Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a meta-analysis...
Cardiovascular Response to Beta-Adrenergic Blockade or Activation in 23 Inbred Mouse Strains
Berthonneche, Corinne, Peter, Bastian, Schüpfer, Fanny, Hayoz, Pamela, Kutalik, Zoltán, Abriel, Hugues, ...
We report the characterisation of 27 cardiovascular-related traits in 23 inbred mouse strains. Mice were phenotyped either in response to chronic administration of a single dose of the β-adrenergic...
Senderek, Jan, Garvey, Sean M., Krieger, Michael, Guergueltcheva, Velina, Urtizberea, Andoni, Roos, Andreas, ...
Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia...
Esnault, Germain, Majocchi, Stefano, Martinet, Danielle, Besuchet-Schmutz, Nathalie, Beckmann, Jacques S., Mermod, Nicolas
Telomeres are associated with chromatin-mediated silencing of genes in their vicinity. However, how epigenetic markers mediate mammalian telomeric silencing and whether specific proteins may...