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

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

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

http://www.wikidata.org/entity/Q24530593

about

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects A conditional knockout resource for the genome-wide study of mouse gene function SEARCHING FOR FUNCTIONAL GENETIC VARIANTS IN NON-CODING DNA Genomic views of distant-acting enhancers Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing Contributions of PTCH gene variants to isolated cleft lip and palate The regulatory content of intergenic DNA shapes genome architecture DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes Using the ENCODE Resource for Functional Annotation of Genetic Variants Functional anatomy of distant-acting mammalian enhancers Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models Long-range regulatory polymorphisms affecting a GABA receptor constitute a quantitative trait locus (QTL) for social behavior in Caenorhabditis elegans Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models Antisense down-regulation of lipocalin-interacting membrane receptor expression inhibits cellular internalization of lipocalin-1 in human NT2 cells A frameshift mutation in Disrupted in Schizophrenia 1 in an American family with schizophrenia and schizoaffective disorder Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly GATA6 is a crucial regulator of Shh in the limb bud Gata6-Dependent GLI3 Repressor Function is Essential in Anterior Limb Progenitor Cells for Proper Limb Development Mouse limb deformity mutations disrupt a global control region within the large regulatory landscape required for Gremlin expression Development of five digits is controlled by a bipartite long-range cis-regulator Systematic localization of common disease-associated variation in regulatory DNA Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation Genetic analysis of genome-wide variation in human gene expression Evidence of an evolutionarily conserved LMBR1 domain-containing protein that associates with endocytic cups and plays a role in cell migration in dictyostelium discoideum.Conserved noncoding elements follow power-law-like distributions in several genomes as a result of genome dynamics.A statistical framework to predict functional non-coding regions in the human genome through integrated analysis of annotation data.Multiple, distant Gata2 enhancers specify temporally and tissue-specific patterning in the developing urogenital system.Heterotachy in mammalian promoter evolution.Identification of plant promoter constituents by analysis of local distribution of short sequences Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.Identifying regulatory elements in eukaryotic genomes.Comparative genomics reveals a functional thyroid-specific element in the far upstream region of the PAX8 gene.Copy number variation and cytidine analogue cytotoxicity: a genome-wide association approach.Identification of two common variants contributing to serum apolipoprotein B levels in Mexicans.Genetic variation in the odorant receptors family 13 and the mhc loci influence mate selection in a multiple sclerosis dataset Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest.Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)A GREM1 gene variant associates with diabetic nephropathy.

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P2860

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

http://www.wikidata.org/entity/Q24530593

description

2002 nî lūn-bûn

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2002 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի մայիսին հրատարակված գիտական հոդված

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

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name

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

@ast

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

@en

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

@en-gb

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

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type

label

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

@ast

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

@en

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

@en-gb

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

@nl

prefLabel

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

@ast

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

@en

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

@en-gb

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

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P1433

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Proceedings of the National Academy of Sciences of the United States of America

P1476

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

@en

P2093

Ben A Oostra

http://www.w3.org/2001/XMLSchema#string

Dai Ayusawa

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Eiichi Takahashi

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Guido J Breedveld

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Herma C van der Linde

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Kazuhiko Nakabayashi

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Laura A Lettice

http://www.w3.org/2001/XMLSchema#string

Marijke J van Baren

http://www.w3.org/2001/XMLSchema#string

Marijke Joosse

http://www.w3.org/2001/XMLSchema#string

Mikio Suzuki

http://www.w3.org/2001/XMLSchema#string

P2860

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

Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1

A novel acropectoral syndrome maps to chromosome 7q36

A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice

A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36

Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function

Linkage of preaxial polydactyly type 2 to 7q36

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

Some distal limb structures develop in mice lacking Sonic hedgehog signaling

The molecular ZPA.

P304

7548-53

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scholarly article

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455408

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10.1073/PNAS.112212199

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P433

11

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P478

99

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Stephen W. Scherer

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2002-05-28T00:00:00Z

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11340828

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P698

12032320

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P932

124279

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