Lista de obras - Nadav Ahituv - Dominio Público Uruguay

A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens

scientific article published on 03 January 2019

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

artículo científico publicado en 2015

A PYY Q62P variant linked to human obesity

artículo científico publicado en 2005

A compact, in vivo screen of all 6-mers reveals drivers of tissue-specific expression and guides synthetic regulatory element design.

artículo científico publicado en 2013

A distal enhancer and an ultraconserved exon are derived from a novel retroposon

artículo científico publicado en 2006

A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia

artículo científico publicado en 2015

A new mouse mutant for the LDL receptor identified using ENU mutagenesis

artículo científico publicado en 2008

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

artículo científico publicado en 2012

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form

artículo científico publicado en 2014

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

artículo científico publicado en 2016

A systematic evaluation of the design and context dependencies of massively parallel reporter assays

artículo científico publicado en 2020

Alternative approach to a heavy weight problem

artículo científico publicado en 2007

An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice

artículo científico publicado en 2004

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study

scientific article published on 17 December 2008

Asymmetron: a toolkit for the identification of strand asymmetry patterns in biological sequences

artículo científico publicado en 2020

Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

artículo científico publicado en 2020

Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus

artículo científico publicado en 2016

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.

artículo científico publicado en 2018

Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations

artículo científico publicado en 2013

Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations

Classification of topological domains based on gene expression and regulation

artículo científico publicado en 2013

Co-option of the lineage-specific LAVA retrotransposon in the gibbon genome

artículo científico publicado en 2020

Coding exons function as tissue-specific enhancers of nearby genes

artículo científico publicado en 2012

Comparative Genomic Characterization of the Multimammate Mouse Mastomys coucha

scientific article published on 01 December 2019

Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene

artículo científico publicado en 2005

Decoding enhancers using massively parallel reporter assays

artículo científico publicado en 2015

Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia

artículo científico publicado en 2021

Deletion of ultraconserved elements yields viable mice

artículo científico publicado en 2007

Dysregulation of STAT3 signaling is associated with endplate-oriented herniations of the intervertebral disc in Adgrg6 mutant mice

scientific article published on 25 October 2019

Enhancer interaction networks as a means for singular olfactory receptor expression

artículo científico publicado en 2014

Exploiting human--fish genome comparisons for deciphering gene regulation

artículo científico publicado en 2004

Function and regulation of AUTS2, a gene implicated in autism and human evolution

artículo científico publicado en 2013

Functional analysis of limb enhancers in the developing fin.

artículo científico publicado en 2013

Functional characterization of SIM1-associated enhancers

artículo científico publicado en 2013

Functional characterization of liver enhancers that regulate drug-associated transporters.

artículo científico publicado en 2011

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

artículo científico publicado en 2012

Functionally conserved enhancers with divergent sequences in distant vertebrates

artículo científico publicado en 2015

Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle

artículo científico publicado en 2007

Gene Regulatory Elements

article

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions

artículo científico publicado en 2014

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

artículo científico publicado en 2018

Genome-wide discovery of drug-dependent human liver regulatory elements

artículo científico publicado en 2014

Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.

artículo científico publicado en 2014

Genome-wide identification of signaling center enhancers in the developing limb

artículo científico publicado en 2014

Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation

scientific article published on 08 April 2019

Genomic structure of the human unconventional myosin VI gene

artículo científico publicado en 2000

Homeostasis of the intervertebral disc requires regulation of STAT3 signaling by the adhesion G-protein coupled receptor ADGRG6

Human developmental enhancers conserved between deuterostomes and protostomes

artículo científico publicado en 2012

Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution

artículo científico publicado en 2021

Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction

scientific article published on 17 October 2019

Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1

artículo científico publicado en 2009

Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2).

artículo científico publicado en 2008

Identification of novel Fgf enhancers and their role in dental evolution

artículo científico publicado en 2016

In vivo characterization of human APOA5 haplotypes

artículo científico publicado en 2007

Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy

artículo científico publicado en 2009

Integrating diverse datasets improves developmental enhancer prediction

artículo científico publicado en 2014

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

artículo científico publicado en 2019

Location, location, cis-mutation

article published in 2011

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

artículo científico publicado en 2001

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

artículo científico publicado en 2001

Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny

artículo científico publicado en 2005

Massively parallel characterization of regulatory dynamics during neural induction

Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model

artículo científico publicado en 2013

Massively parallel functional dissection of mammalian enhancers in vivo

artículo científico publicado en 2012

Medical sequencing at the extremes of human body mass

artículo científico publicado en 2007

Meta-analysis of massive parallel reporter assay enables functional regulatory elements prediction

Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types

artículo científico publicado en 2019

Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease

artículo científico publicado en 2015

Modulating gene regulation to treat genetic disorders

scientific article published on 05 October 2020

Mouse models for human deafness: current tools for new fashions

artículo científico publicado en 2002

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

artículo científico publicado en 1998

Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice

scientific journal article

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

artículo científico publicado en 2018

Pharmacogene regulatory elements: from discovery to applications

artículo científico publicado en 2012

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

scientific article published on 08 August 2019

Sequence signatures extracted from proximal promoters can be used to predict distal enhancers

artículo científico publicado en 2013

Single-cell epigenomics reveals mechanisms of human cortical development

artículo científico publicado en 2021

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot

Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation

artículo científico publicado en 2014

The Notch ligand Jagged1 is required for inner ear sensory development.

artículo científico publicado en 2001

The cis-regulatory effects of modern human-specific variants

artículo científico publicado en 2021

The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration

artículo científico publicado en 2015

The hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers

artículo científico publicado en 2013

The role of AUTS2 in neurodevelopment and human evolution

artículo científico publicado en 2013

Three-dimensional genome rewiring in loci with human accelerated regions ⬇️

artículo científico publicado en 2023

Transcriptomic and epigenomic characterization of the developing bat wing

artículo científico publicado en 2016

Uncovering drug-responsive regulatory elements

artículo científico publicado en 2015

Use antibiotics in cell culture with caution: genome-wide identification of antibiotic-induced changes in gene expression and regulation.

artículo científico publicado en 2017

cis-regulatory mutations are a genetic cause of human limb malformations

artículo científico publicado en 2011

crisprQTL mapping as a genome-wide association framework for cellular genetic screens

lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

artículo científico publicado en 2020

Lista de obras de Nadav Ahituv

A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females

A PYY Q62P variant linked to human obesity

A compact, in vivo screen of all 6-mers reveals drivers of tissue-specific expression and guides synthetic regulatory element design.

A distal enhancer and an ultraconserved exon are derived from a novel retroposon

A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia

A new mouse mutant for the LDL receptor identified using ENU mutagenesis

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

A systematic evaluation of the design and context dependencies of massively parallel reporter assays

Alternative approach to a heavy weight problem

An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study

Asymmetron: a toolkit for the identification of strand asymmetry patterns in biological sequences

Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements

Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.

Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations

Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations

Classification of topological domains based on gene expression and regulation

Co-option of the lineage-specific LAVA retrotransposon in the gibbon genome

Coding exons function as tissue-specific enhancers of nearby genes

Comparative Genomic Characterization of the Multimammate Mouse Mastomys coucha

Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene

Decoding enhancers using massively parallel reporter assays

Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia

Deletion of ultraconserved elements yields viable mice

Dysregulation of STAT3 signaling is associated with endplate-oriented herniations of the intervertebral disc in Adgrg6 mutant mice

Enhancer interaction networks as a means for singular olfactory receptor expression

Exploiting human--fish genome comparisons for deciphering gene regulation

Function and regulation of AUTS2, a gene implicated in autism and human evolution

Functional analysis of limb enhancers in the developing fin.

Functional characterization of SIM1-associated enhancers

Functional characterization of liver enhancers that regulate drug-associated transporters.

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Functionally conserved enhancers with divergent sequences in distant vertebrates

Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle

Gene Regulatory Elements

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

Genome-wide discovery of drug-dependent human liver regulatory elements

Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.

Genome-wide identification of signaling center enhancers in the developing limb

Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation

Genomic structure of the human unconventional myosin VI gene

Homeostasis of the intervertebral disc requires regulation of STAT3 signaling by the adhesion G-protein coupled receptor ADGRG6

Human developmental enhancers conserved between deuterostomes and protostomes

Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution

Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction

Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1

Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2).

Identification of novel Fgf enhancers and their role in dental evolution

In vivo characterization of human APOA5 haplotypes

Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy

Integrating diverse datasets improves developmental enhancer prediction

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

Location, location, cis-mutation

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny

Massively parallel characterization of regulatory dynamics during neural induction

Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model

Massively parallel functional dissection of mammalian enhancers in vivo

Medical sequencing at the extremes of human body mass

Meta-analysis of massive parallel reporter assay enables functional regulatory elements prediction

Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types

Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease

Modulating gene regulation to treat genetic disorders

Mouse models for human deafness: current tools for new fashions

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Pharmacogene regulatory elements: from discovery to applications

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

Sequence signatures extracted from proximal promoters can be used to predict distal enhancers

Single-cell epigenomics reveals mechanisms of human cortical development

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot