Search Results - "Ahituv, N"

Prenatal β-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors by Belinson, H, Nakatani, J, Babineau, B A, Birnbaum, R Y, Ellegood, J, Bershteyn, M, McEvilly, R J, Long, J M, Willert, K, Klein, O D, Ahituv, N, Lerch, J P, Rosenfeld, M G, Wynshaw-Boris, A

“…Social interaction is a fundamental behavior in all animal species, but the developmental timing of the social neural circuit formation and the cellular and…”
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Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study by Calton, Melissa A., Ersoy, Baran A., Zhang, Sumei, Kane, John P., Malloy, Mary J., Pullinger, Clive R., Bromberg, Yana, Pennacchio, Len A., Dent, Robert, McPherson, Ruth, Ahituv, Nadav, Vaisse, Christian

“…Functionally significant heterozygous mutations in the Melanocortin-4 receptor (MC4R) have been implicated in 2.5% of early onset obesity cases in European…”
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Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes by Oksenberg, N, Haliburton, G D E, Eckalbar, W L, Oren, I, Nishizaki, S, Murphy, K, Pollard, K S, Birnbaum, R Y, Ahituv, N

“…The autism susceptibility candidate 2 gene ( AUTS2 ) has been associated with multiple neurological diseases including autism spectrum disorders (ASDs)…”
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Studies of TBX4 and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot by Lu, W., Bacino, C.A., Richards, B.S., Alvarez, C., VanderMeer, J.E., Vella, M., Ahituv, N., Sikka, N., Dietz, F.R., Blanton, S.H., Hecht, J.T.

“…Clubfoot is a common birth defect characterized by inward posturing and rigid downward displacement of one or both feet. The etiology of syndromic forms of…”
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Exploiting human–fish genome comparisons for deciphering gene regulation by 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…”
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Functional Characterization of Liver Enhancers That Regulate Drug-Associated Transporters by Kim, MJ, Skewes‐Cox, P, Fukushima, H, Hesselson, S, Yee, SW, Ramsey, LB, Nguyen, L, Eshragh, JL, Castro, RA, Wen, CC, Stryke, D, Johns, SJ, Ferrin, TE, Kwok, P‐Y, Relling, MV, Giacomini, KM, Kroetz, DL, Ahituv, N

“…Little is known about how genetic variations in enhancers influence drug response. In this study, we investigated whether nucleotide variations in enhancers…”
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Performance evaluation of a distributed application by Ahituv, N, Elovici, Y

“…Analysing the performance of an application performed on a distributed system is discussed in this paper. An analogy between a distributed system and a…”
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A distal enhancer and an ultraconserved exon are derived from a novel retroposon by Ahituv, Nadav, King, Bryan, Siepel, Adam, James Kent, W, Lowe, Craig B, Haussler, David, Bejerano, Gill, Rubin, Edward M, Salama, Sofie R

“…Hundreds of highly conserved distal cis-regulatory elements have been characterized so far in vertebrate genomes. Many thousands more are predicted on the…”
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Auditory and vestibular mouse mutants: models for human deafness by Ahituv, N, Avraham, K B

“…We have shown here several examples of how hearing and vestibular impaired mouse mutants are generated and the insight that they provide in the study of…”
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Missense variants in collagenesis genes increase risk of adolescent idiopathic scoliosis by Wise, Carol, Khanshour, Anas, Yu, Hao, Ushiki, Aki, Li, Xiao-Yan, Otomo, Nao, Koike, Yoshinao, Einarsdottir, Elisabet, Fan, Felix, Antunes, Lilian, Sheng, Rory, Zhang, Yichi, Pei, Jimin, Grishin, Nick, Evers, Bret, Cheung, Jason Pui Yin, Herring, Tony, Song, You-Qiang, Gurnett, Christina, Gerdhem, Paul, Ikegawa, Shiro, Weiss, Stephen, Ahituv, Nadav, Rios, Jonathan

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Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci by Khanshour, Anas M, Kou, Ikuyo, Fan, Yanhui, Einarsdottir, Elisabet, Makki, Nadja, Kidane, Yared H, Kere, Juha, Grauers, Anna, Johnson, Todd A, Paria, Nandina, Patel, Chandreshkumar, Singhania, Richa, Kamiya, Nobuhiro, Takeda, Kazuki, Otomo, Nao, Watanabe, Kota, Luk, Keith D K, Cheung, Kenneth M C, Herring, John A, Rios, Jonathan J, Ahituv, Nadav, Gerdhem, Paul, Gurnett, Christina A, Song, You-Qiang, Ikegawa, Shiro, Wise, Carol A

“…Abstract Adolescent idiopathic scoliosis (AIS) is the most common musculoskeletal disorder of childhood development. The genetic architecture of AIS is…”
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Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis by Yu, Hao, Khanshour, Anas M, Ushiki, Aki, Otomo, Nao, Koike, Yoshinao, Einarsdottir, Elisabet, Fan, Yanhui, Antunes, Lilian, Kidane, Yared H, Cornelia, Reuel, Sheng, Rory R, Zhang, Yichi, Pei, Jimin, Grishin, Nick V, Evers, Bret M, Cheung, Jason Pui Yin, Herring, John A, Terao, Chikashi, Song, You-Qiang, Gurnett, Christina A, Gerdhem, Paul, Ikegawa, Shiro, Rios, Jonathan J, Ahituv, Nadav, Wise, Carol A

“…Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more…”
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Prenatal [beta]-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors by Belinson, H, Nakatani, J, Babineau, B A, Birnbaum, R Y, Ellegood, J, Bershteyn, M, McEvilly, R J, Long, J M, Willert, K, Klein, O D, Ahituv, N, Lerch, J P, Rosenfeld, M G, Wynshaw-Boris, A

“…Social interaction is a fundamental behavior in all animal species, but the developmental timing of the social neural circuit formation and the cellular and…”
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A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb by Laurell, Tobias, VanderMeer, Julia E., Wenger, Aaron M., Grigelioniene, Giedre, Nordenskjöld, Agneta, Arner, Marianne, Ekblom, Anna Gerber, Bejerano, Gill, Ahituv, Nadav, Nordgren, Ann

“…Mutations in the Sonic hedgehog limb enhancer, the zone of polarizing activity regulatory sequence (ZRS, located within the gene LMBR1), commonly called the…”
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C21 OMICS IN LUNG DISEASE: Whole Genome Sequencing Study On Bronchodilator Drug Response In Ethnically Diverse Children With Asthma by Mak, A, White, M J, Szpiech, Z A, Eckalbar, W, Pino-Yanes, M, Oh, S, Hu, D, Huntsman, S, Eng, C, Davis, A, Serebrisky, D, Brigino-Buenaventura, E, Lurmann, F, Farber, H J, Rodriguez-Santana, J R, Meade, K, Borrell, L N, LeNoir, M A, Avila, P C, Kumar, R, Sen, S, Thyne, S, Rodriguez-Cintron, W, Kwok, P-Y, Torgerson, D G, Galanter, J, Ahituv, N, Ziv, E, Seibold, M A, Zaitlen, N, Hernandez, R D, Burchard, E G

“…Despite significant racial/ethnic variation in bronchodilator drug response (BDR), albuterol is often the only medication prescribed for asthma, regardless of…”
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Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny by 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…”
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MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss by Melchionda, Salvatore, Ahituv, Nadav, Bisceglia, Luigi, Sobe, Tama, Glaser, Fabian, Rabionet, Raquel, Arbones, Maria Lourdes, Notarangelo, Angelo, Di Iorio, Enzo, Carella, Massimo, Zelante, Leopoldo, Estivill, Xavier, Avraham, Karen B., Gasparini, Paolo

“…Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell’s waltzer ( sv) mouse. The…”
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The Notch Ligand Jagged1 is Required for Inner Ear Sensory Development by Kiernan, Amy E., Ahituv, Nadav, Fuchs, Helmut, Balling, Rudi, Avraham, Karen B., Steel, Karen P., de Angelis, Martin Hrabé

“…Within the mammalian inner ear there are six separate sensory regions that subserve the functions of hearing and balance, although how these sensory regions…”
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In vivo characterization of human APOA5 haplotypes by Ahituv, Nadav, Akiyama, Jennifer, Chapman-Helleboid, Audrey, Fruchart, Jamila, Pennacchio, Len A.

“…Increased plasma triglyceride concentrations are an independent risk factor for cardiovascular disease. Numerous studies support a reproducible genetic…”
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The impact of accessibility on the value of information and the productivity paradox by Ahituv, Niv, Greenstein, Gil

“…The value of information systems availability is analyzed in this study through theoretical models of information economics. The article employs the…”
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