Calton, Melissa A., Ersoy, Baran A., Zhang, Sumei, Kane, John P., Malloy, Mary J., Pullinger, Clive R., ...
Functionally significant heterozygous mutations in the Melanocortin-4 receptor (MC4R) have been implicated in 2.5% of early onset obesity cases in European cohorts. The role of mutations in this gene...
Gill Bejerano, Craig Lowe, Nadav Ahituv, Bryan King, Adam Siepel, Sofie Salama, ...
An enhancer near ISL1 and an ultraconserved PCBP2 exon are
Medical Sequencing at the Extremes of Human Body Mass REPORT (2008)
Nadav Ahituv, Nihan Kavaslar, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, Sybil Hébert, ...
Body weight is a quantitative trait with significant heritability in humans. To identify potential genetic contributors to this phenotype, we resequenced the coding exons and splice junctions of 58...
In Vivo Characterization of Human APOA5 Haplotypes (2008)
Ahituv, Nadav, Akiyama, Jennifer, Chapman-Helleboid, Audrey, Fruchart, Jamila, Pennacchio, Len A.
Alternative approach to a heavy weight problem (2008)
Goren, Amir, Kim, Eddo, Amit, Maayan, Bochner, Ron, Lev-Maor, Galit, Ahituv, Nadav, ...
Obesity is reaching epidemic proportions in developed countries and represents a significant risk factor for hypertension, heart disease, diabetes, and dyslipidemia. Splicing mutations constitute at...
Deletion of Ultraconserved Elements Yields Viable Mice (2007)
Nadav Ahituv, Yiwen Zhu, Axel Visel, Amy Holt, Veena Afzal, Len A. Pennacchio, ...
Ultraconserved elements have been suggested to retain extended perfect sequence identity between the human, mouse, and rat genomes due to essential functional properties. To investigate the...
Deletion of ultraconserved elements yields viable mice (2007)
Ahituv, Nadav, Zhu, Yiwen, Visel, Axel, Holt, Amy, Afzal, Veena, Pennacchio, Len A., ...
Ultraconserved elements have been suggested to retain extended perfect sequence identity between the human, mouse, and rat genomes due to essential functional properties. To investigate the...
Medical Sequencing at the extremes of Human Body Mass (2006)
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewski, Anna, Martin, Joes, Hebert, Sybil, ...
Body weight is a quantitative trait with significant heritability in humans. To identify potential genetic contributors to this phenotype, we resequenced the coding exons and splice junctions of 58...
In Vivo Enhancer Analysis Chromosome 16 Conserved Noncoding Sequences (2006)
Pennacchio, Len A., Ahituv, Nadav, Moses, Alan M., Nobrega, Marcelo, Prabhakar, Shyam, Shoukry, Malak, ...
The identification of enhancers with predicted specificities in vertebrate genomes remains a significant challenge that is hampered by a lack of experimentally validated training sets. In this study,...
A PYY Q62P variant linked to human obesity (2006)
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewska, Anna, Collier, John Michael, Hébert, Sybil, ...
Peptide YY (PYY) has been implicated in the control of food intake through functional studies in rodents and humans. To investigate whether genetic alterations within this gene result in abnormal...
An Enhancer Near ISL1 and an Ultraconserved Exon of PCBP2 are Derived from a Retroposon (2005)
Bejerano, Gill, Lowe, Craig, Ahituv, Nadav, King, Bryan, Siepel, Adam, Salama, Sofie, ...
Hundreds of highly conserved distal cis-regulatory elements have been characterized to date in vertebrate genomes1. Many thousands more are predicted based on comparative genomics2,3. Yet, in stark...
A PYY Q62P variant linked to human obesity (2005)
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewska, Anna, Collier, John Michael, Hebert, Sybil, ...
Members of the pancreatic polypeptide family and their receptors have been implicated in the control of food intake in rodents and humans. To investigate whether nucleotide changes in these candidate...
Ahituv, Nadav, Prabhakar, Shyam, Poulin, Francis, Rubin, Edward M., Couronne, Olivier
Our inability to associate distant regulatory elements with the genes that they regulate has largely precluded their examination for sequence alterations contributing to human disease. One major...
Ahituv, Nadav, Prabhakar, Shyam, Poulin, Francis, Rubin, Edward M., Couronne, Olivier
Our inability to associate distant regulatory elements with the genes they regulate has largely precluded their examination for sequence alterations contributing to human disease. One major obstacle...
Ahituv, Nadav, Prabhakar, Shyam, Poulin, Francis, Rubin, Edward M., Couronne, Olivier
Our inability to associate distant regulatory elements with the genes that they regulate has largely precluded their examination for sequence alterations contributing to human disease. One major...
A PYY Q62P variant linked to human obesity (2005)
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewska, Anna, Collier, John Michael, Hébert, Sybil, ...
Peptide YY (PYY) has been implicated in the control of food intake through functional studies in rodents and humans. To investigate whether genetic alterations within this gene result in abnormal...
Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene (2004)
Baroukh, Nadine, Ahituv, Nadav, Chang, Jessie, Shoukry, Malak, Afzal, Veena, Rubin, Edward M., ...
COUP-TFII is a central nuclear hormone receptor that tightly regulates the expression of numerous target lipid metabolism genes in vertebrates. However, it remains unclear how COUP-TFII itself is...
Exploiting human-fish genome comparisons for deciphering gene regulation (2004)
Ahituv, Nadav, Rubin, Edward M., Nobrega, Marcelo A.
Comparative genomics has served as an essential guide in the identification of functional coding and non-coding sequences in vertebrate genomes. Human–mouse pair-wise comparisons have limited...
The Notch ligand Jagged1 is required for inner ear sensory development
Kiernan, Amy E., Ahituv, Nadav, Fuchs, Helmut, Balling, Rudi, Avraham, Karen B., Steel, Karen P., ...
Within the mammalian inner ear there are six separate sensory regions that subserve the functions of hearing and balance, although how these sensory regions become specified remains unknown. Each...
Melchionda, Salvatore, Ahituv, Nadav, Bisceglia, Luigi, Sobe, Tama, Glaser, Fabian, Rabionet, Raquel, ...
Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell’s waltzer (sv) mouse. The corresponding human gene, MYO6, is located on...
The Notch ligand Jagged1 is required for inner ear sensory development
Kiernan, Amy E., Ahituv, Nadav, Fuchs, Helmut, Balling, Rudi, Avraham, Karen B., Steel, Karen P., ...
Within the mammalian inner ear there are six separate sensory regions that subserve the functions of hearing and balance, although how these sensory regions become specified remains unknown. Each...
Melchionda, Salvatore, Ahituv, Nadav, Bisceglia, Luigi, Sobe, Tama, Glaser, Fabian, Rabionet, Raquel, ...
Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell’s waltzer (sv) mouse. The corresponding human gene, MYO6, is located on...
Costford, Sheila R., Kavaslar, Nihan, Ahituv, Nadav, Chaudhry, Shehla N., Schackwitz, Wendy S., Dent, Robert, ...
Deletion of Ultraconserved Elements Yields Viable Mice
Ahituv, Nadav, Zhu, Yiwen, Visel, Axel, Holt, Amy, Afzal, Veena, Pennacchio, Len A, ...
Ultraconserved elements have been suggested to retain extended perfect sequence identity between the human, mouse, and rat genomes due to essential functional properties. To investigate the...
Medical Sequencing at the Extremes of Human Body Mass
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewska, Anna, Martin, Joel, Hébert, Sybil, ...
Body weight is a quantitative trait with significant heritability in humans. To identify potential genetic contributors to this phenotype, we resequenced the coding exons and splice junctions of 58...
Alternative approach to a heavy weight problem
Goren, Amir, Kim, Eddo, Amit, Maayan, Bochner, Ron, Lev-Maor, Galit, Ahituv, Nadav, ...
Obesity is reaching epidemic proportions in developed countries and represents a significant risk factor for hypertension, heart disease, diabetes, and dyslipidemia. Splicing mutations constitute at...
A new mouse mutant for the LDL receptor identified using ENU mutagenesis*
Svenson, Karen L., Ahituv, Nadav, Durgin, Rebecca S., Savage, Holly, Magnani, Phyllis A., Foreman, Oded, ...
In an effort to discover new mouse models of cardiovascular disease using N-ethyl-N-nitrosourea (ENU) mutagenesis followed by high-throughput phenotyping, we have identified a new mouse mutation,...