(Q37822860)

23 August 2017

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title

Disruption of long-distance highly conserved noncoding elements in neurocristopathies (English)

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23 August 2017

3

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23 August 2017

2

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Stanislas Lyonnet

series ordinal

4

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Jeanne Amiel

object named as

Jeanne Amiel

series ordinal

1

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language of work or name

English

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publication date

1 December 2010

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Annals of the New York Academy of Sciences

23 August 2017

published in

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23 August 2017

volume

1214

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23 August 2017

page(s)

34-46

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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

23 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Highly conserved non-coding sequences are associated with vertebrate development

21 January 2018

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In vivo enhancer analysis of human conserved non-coding sequences

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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The relationship between non-protein-coding DNA and eukaryotic complexity.

21 January 2018

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Comparative genomics at the vertebrate extremes

21 January 2018

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21 January 2018

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Raising the estimate of functional human sequences

21 January 2018

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Ultraconserved Elements in the Human Genome

21 January 2018

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Control of developmental regulators by Polycomb in human embryonic stem cells

21 January 2018

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Interchromosomal interactions and olfactory receptor choice

21 January 2018

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Transvection effects in Drosophila

21 January 2018

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The cellular and molecular origins of beak morphology

21 January 2018

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Patterning of the hyoid cartilage depends upon signals arising from the ventral foregut endoderm

21 January 2018

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Hirschsprung disease, associated syndromes and genetics: a review

21 January 2018

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Mutations of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

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A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

21 January 2018

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Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer

21 January 2018

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

21 January 2018

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Review and update of mutations causing Waardenburg syndrome.

21 January 2018

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Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

21 January 2018

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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

L1cam acts as a modifier gene during enteric nervous system development

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence

21 January 2018

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

21 January 2018

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Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions

21 January 2018

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Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization

21 January 2018

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Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crest

21 January 2018

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Conditional inactivation of Sox9: a mouse model for campomelic dysplasia.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

SOX9 directly regulates the type-II collagen gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Long-range regulation at the SOX9 locus in development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Genomic code for Sox10 activation reveals a key regulatory enhancer for cranial neural crest.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

The same enhancer regulates the earliest Emx2 expression in caudal forebrain primordium, subsequent expression in dorsal telencephalon and later expression in the cortical ventricular zone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Deletion of ultraconserved elements yields viable mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

A radioautographic study of the migration and fate of cranial neural crest cells in the chick embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Large-Scale Appearance of Ultraconserved Elements in Tetrapod Genomes and Slowdown of the Molecular Clock

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

Pierre Robin Sequence: A series of 117 consecutive cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2010.05878.X

10.1111/J.1749-6632.2010.05878.X

21 January 2018

Identifiers

DOI

1 reference

23 August 2017

1 reference