about
Deletion of ultraconserved elements yields viable miceMutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humansMYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and DiseaseFunction and regulation of AUTS2, a gene implicated in autism and human evolutionDecoding enhancers using massively parallel reporter assaysGenome-wide discovery of drug-dependent human liver regulatory elementsMutations in DMRT3 affect locomotion in horses and spinal circuit function in miceIdentification of novel Fgf enhancers and their role in dental evolutionBat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD LocusHuman developmental enhancers conserved between deuterostomes and protostomesA distal enhancer and an ultraconserved exon are derived from a novel retroposonGain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscleGenetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regionsA novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapyMassively parallel functional dissection of mammalian enhancers in vivo.Coding exons function as tissue-specific enhancers of nearby genesIdentification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.A compact, in vivo screen of all 6-mers reveals drivers of tissue-specific expression and guides synthetic regulatory element design.Mouse models for human deafness: current tools for new fashions.Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model.Genome-wide identification of signaling center enhancers in the developing limb.The Notch ligand Jagged1 is required for inner ear sensory development.A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in femalesIntegrating diverse datasets improves developmental enhancer predictioncis-regulatory mutations are a genetic cause of human limb malformationsSystematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.Functional characterization of liver enhancers that regulate drug-associated transporters.Medical sequencing at the extremes of human body mass.Functionally conserved enhancers with divergent sequences in distant vertebrates.Exploiting human--fish genome comparisons for deciphering gene regulation.A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.Pharmacogene regulatory elements: from discovery to applicationsA genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.Uncovering drug-responsive regulatory elements.Transcriptomic and epigenomic characterization of the developing bat wing.A new mouse mutant for the LDL receptor identified using ENU mutagenesis.Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Nadav Ahituv
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Nadav Ahituv
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Nadav Ahituv
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Nadav Ahituv
@nl
Nadav Ahituv
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type
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Nadav Ahituv
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Nadav Ahituv
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Nadav Ahituv
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Nadav Ahituv
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Nadav Ahituv
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prefLabel
Nadav Ahituv
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Nadav Ahituv
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Nadav Ahituv
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Nadav Ahituv
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Nadav Ahituv
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P106
P1153
8510545900
P21
P31
P496
0000-0002-7434-8144
P569
2000-01-01T00:00:00Z