Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences (Q38185270)

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scientific article published on 05 February 2014

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English	Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences	scientific article published on 05 February 2014

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scholarly article

1 reference

Europe PubMed Central

30 August 2017

Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences (English)

1 reference

Europe PubMed Central

30 August 2017

genetic disease

1 reference

based on heuristic

inferred from title

Dirk A Kleinjan

2

object named as

Dirk A Kleinjan

1 reference

Europe PubMed Central

30 August 2017

author name string

Shipra Bhatia

1

1 reference

Europe PubMed Central

30 August 2017

publication date

5 February 2014

1 reference

Europe PubMed Central

30 August 2017

1 reference

Europe PubMed Central

30 August 2017

133

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Europe PubMed Central

30 August 2017

815-845

1 reference

Europe PubMed Central

30 August 2017

7

1 reference

Europe PubMed Central

30 August 2017

https://scigraph.springernature.com/pub.10.1007/s00439-014-1424-6

0 references

Deletion of ultraconserved elements yields viable mice

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8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC.

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Otic mesenchyme expression of Cre recombinase directed by the inner ear enhancer of the Brn4/Pou3f4 gene.

1 reference

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21 January 2018

Epigenomic enhancer profiling defines a signature of colon cancer

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11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report.

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21 January 2018

Chromosomal dynamics at the Shh locus: limb bud-specific differential regulation of competence and active transcription.

1 reference

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21 January 2018

A switch between topological domains underlies HoxD genes collinearity in mouse limbs

1 reference

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21 January 2018

Genome-wide quantitative enhancer activity maps identified by STARR-seq

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21 January 2018

Transcriptional enhancers: Intelligent enhanceosomes or flexible billboards?

1 reference

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21 January 2018

Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern.

1 reference

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21 January 2018

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

1 reference

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21 January 2018

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

1 reference

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21 January 2018

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia

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21 January 2018

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

1 reference

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21 January 2018

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

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21 January 2018

An integrated encyclopedia of DNA elements in the human genome

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21 January 2018

Coding exons function as tissue-specific enhancers of nearby genes

1 reference

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21 January 2018

The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH

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Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

1 reference

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21 January 2018

Enhancers as information integration hubs in development: lessons from genomics.

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21 January 2018

A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy

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21 January 2018

Many human accelerated regions are developmental enhancers

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Multiplex genome engineering using CRISPR/Cas systems

1 reference

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21 January 2018

Mapping complex disease traits with global gene expression

1 reference

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21 January 2018

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

1 reference

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21 January 2018

Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A SOX9 duplication and familial 46,XX developmental testicular disorder

1 reference

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21 January 2018

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Emerging properties of animal gene regulatory networks

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Properties of developmental gene regulatory networks

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Topology of mammalian developmental enhancers and their regulatory landscapes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A decade of 3C technologies: insights into nuclear organization

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21 January 2018

Exploring the three-dimensional organization of genomes: interpreting chromatin interaction data

1 reference

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21 January 2018

Controlling long-range genomic interactions at a native locus by targeted tethering of a looping factor

1 reference

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21 January 2018

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

1 reference

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21 January 2018

Modifier effects between regulatory and protein-coding variation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Common regulatory variation impacts gene expression in a cell type-dependent manner

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Topological domains in mammalian genomes identified by analysis of chromatin interactions

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Breakpoints around the HOXD cluster result in various limb malformations.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Is junk DNA bunk? A critique of ENCODE

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Complex interactions between cis-regulatory modules in native conformation are critical for Drosophila snail expression

1 reference

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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

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21 January 2018

Small is beautiful: comparative genomics with the pufferfish (Fugu rubripes).

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21 January 2018

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Identification of a variant associated with adult-type hypolactasia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans

1 reference

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21 January 2018

Mapping and analysis of chromatin state dynamics in nine human cell types

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

1 reference

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21 January 2018

Identification of SATB2 as the cleft palate gene on 2q32-q33.

1 reference

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21 January 2018

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Phenotypic robustness conferred by apparently redundant transcriptional enhancers

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The impact of gene expression variation on the robustness and evolvability of a developmental gene regulatory network.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The role of the polycomb complex in silencing alpha-globin gene expression in nonerythroid cells

1 reference

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21 January 2018

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

FAIRE (Formaldehyde-Assisted Isolation of Regulatory Elements) isolates active regulatory elements from human chromatin

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Human genome sequencing in health and disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Transgenic analysis of Hoxd gene regulation during digit development.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

On the immortality of television sets: "function" in the human genome according to the evolution-free gospel of ENCODE

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https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Position-independent, high-level expression of the human beta-globin gene in transgenic mice

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genome-wide prediction of mammalian enhancers based on analysis of transcription-factor binding affinity

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Three breakpoints of variant t(2;8) translocations in Burkitt's lymphoma cells fall within a region 140 kilobases distal from c-myc

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The molecular basis of α-thalassemia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Integrative annotation of chromatin elements from ENCODE data

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Shadow enhancers as a source of evolutionary novelty

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Autosomal XX sex reversal caused by duplication of SOX9.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

High-resolution analysis of cis-acting regulatory networks at the α-globin locus

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Using zebrafish transgenesis to test human genomic sequences for specific enhancer activity

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

H3.3/H2A.Z double variant-containing nucleosomes mark 'nucleosome-free regions' of active promoters and other regulatory regions

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

RNA-programmed genome editing in human cells

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The UCSC Genome Browser database: 2014 update

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Evolution at two levels in humans and chimpanzees

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Long-range downstream enhancers are essential for Pax6 expression

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A transposon-based chromosomal engineering method to survey a large cis-regulatory landscape in mice.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Intragenic enhancers act as alternative promoters

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Complex effects of nucleotide variants in a mammalian cis-regulatory element.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Enhancer-adoption as a mechanism of human developmental disease.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Comprehensive mapping of long-range interactions reveals folding principles of the human genome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Transcriptional amplification in tumor cells with elevated c-Myc.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genomic identification of regulatory elements by evolutionary sequence comparison and functional analysis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Single base pair change in the long-range Sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactyly.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Identification of spontaneous mutations within the long-range limb-specific Sonic hedgehog enhancer (ZRS) that alter Sonic hedgehog expression in the chicken limb mutants oligozeugodactyly and silkie breed

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

CRISPR RNA-guided activation of endogenous human genes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Robust, synergistic regulation of human gene expression using TALE activators

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Cas9 as a versatile tool for engineering biology

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https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

RNA-guided human genome engineering via Cas9

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Finding the missing heritability of complex diseases

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

An integrated holo-enhancer unit defines tissue and gene specificity of the Fgf8 regulatory landscape.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genome-wide CTCF distribution in vertebrates defines equivalent sites that aid the identification of disease-associated genes.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Systematic localization of common disease-associated variation in regulatory DNA

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genetic heterogeneity in human disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Human-specific loss of regulatory DNA and the evolution of human-specific traits

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Long non-coding RNAs: insights into functions

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Landscapes and archipelagos: spatial organization of gene regulation in vertebrates

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Chromatin organization and global regulation of Hox gene clusters

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A regulatory archipelago controls Hox genes transcription in digits

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

UniPROBE: an online database of protein binding microarray data on protein-DNA interactions

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Comparative genomic analysis as a tool for biological discovery

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Megabase deletions of gene deserts result in viable mice

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Spatial partitioning of the regulatory landscape of the X-inactivation centre

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Massively parallel functional dissection of mammalian enhancers in vivo

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

RNA-guided gene activation by CRISPR-Cas9-based transcription factors

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Synergistic and tunable human gene activation by combinations of synthetic transcription factors

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Shadow enhancers foster robustness of Drosophila gastrulation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Multiple enhancers ensure precision of gap gene-expression patterns in the Drosophila embryo

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

CTCF: master weaver of the genome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Chromatin insulators: linking genome organization to cellular function

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Architectural protein subclasses shape 3D organization of genomes during lineage commitment

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

What fraction of the human genome is functional?

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Alleles of a polymorphic ETV6 binding site in DCDC2 confer risk of reading and language impairment

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Accelerated evolution of conserved noncoding sequences in humans

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Human-specific gain of function in a developmental enhancer

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Understanding the role of SOX9 in acquired diseases: lessons from development

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A unique chromatin signature uncovers early developmental enhancers in humans

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A cluster of three long-range enhancers directs regional Shh expression in the epithelial linings.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The long-range interaction landscape of gene promoters

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Understanding the contribution of synonymous mutations to human disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A map of the cis-regulatory sequences in the mouse genome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Extensive evolutionary changes in regulatory element activity during human origins are associated with altered gene expression and positive selection

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Pharmacogene regulatory elements: from discovery to applications

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Epigenetic temporal control of mouse Hox genes in vivo.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Long-range enhancers on 8q24 regulate c-Myc

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Global control regions and regulatory landscapes in vertebrate development and evolution

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Transcription factors: from enhancer binding to developmental control

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Large scale transgenic and cluster deletion analysis of the HoxD complex separate an ancestral regulatory module from evolutionary innovations

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A global control region defines a chromosomal regulatory landscape containing the HoxD cluster

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genetics of human iris colour and patterns

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Mice lacking a Myc enhancer that includes human SNP rs6983267 are resistant to intestinal tumors.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Enhancers in embryonic stem cells are enriched for transposable elements and genetic variations associated with cancers

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

SOX9 elevation in the prostate promotes proliferation and cooperates with PTEN loss to drive tumor formation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Convergent adaptation of human lactase persistence in Africa and Europe

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The "beta-like-globin" gene domain in human erythroid cells

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Defining an epigenetic code

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Functional analysis of chicken Sox2 enhancers highlights an array of diverse regulatory elements that are conserved in mammals.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genomics tools for unraveling chromosome architecture

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Polycomb eviction as a new distant enhancer function.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Automated reporter quantification in vivo: high-throughput screening method for reporter-based assays in zebrafish

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

SOX9 is expressed in human fetal prostate epithelium and enhances prostate cancer invasion

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Cohesin mediates transcriptional insulation by CCCTC-binding factor

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Genotype-phenotype associations and human eye color

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Elongator is a histone H3 and H4 acetyltransferase important for normal histone acetylation levels in vivo

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Epigenetic silencing of the p16(INK4a) tumor suppressor is associated with loss of CTCF binding and a chromatin boundary

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Conserved elements within open reading frames of mammalian Hox genes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The evolutionary significance of cis-regulatory mutations

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer risk-associated single-nucleotide polymorphism in colorectal cancer cells

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Combinatorial binding predicts spatio-temporal cis-regulatory activity

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Mouse limb deformity mutations disrupt a global control region within the large regulatory landscape required for Gremlin expression

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1424-6

21 January 2018

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cis-regulatory elements: molecular mechanisms and evolutionary processes underlying divergence

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-scale mapping of DNase I hypersensitivity

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-range DNA looping by the Xenopus HMG-box transcription factor, xUBF

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variant (6;15) translocations in murine plasmacytomas involve a chromosome 15 locus at least 72 kb from the c-myc oncogene

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the first exon are associated with altered transcription of c-myc in Burkitt lymphoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24496500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-014-1424-6

1 reference

Europe PubMed Central

30 August 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

30 August 2017

ResearchGate publication ID

0 references

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