Linking human diseases to animal models using ontology-based phenotype annotation (Q21145806)

16 August 2022

5

Monte Westerfield

Monte

Westerfield

1 reference

19956802

16 August 2022

Christopher J. Mungall

series ordinal

3

object named as

Christopher J Mungall

author given names

Christopher J

author last names

Mungall

1 reference

16 August 2022

2

Melissa A Haendel

Melissa A

Haendel

1 reference

16 August 2022

Nicole L Washington

1

Nicole L

Washington

1 reference

16 August 2022

6

Suzanna E Lewis

Suzanna E

Lewis

1 reference

19956802

Creative Commons CC0 License

16 August 2022

publication date

November 2009

0 references

language of work or name

0 references

0 references

7

0 references

issue

11

0 references

page(s)

e1000247

0 references

copyright license

start time

24 November 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

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Boc is a receptor for sonic hedgehog in the guidance of commissural axons

19 March 2017

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Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis

19 March 2017

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Beta1-integrins are critical for cerebellar granule cell precursor proliferation

19 March 2017

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Mutations affecting segment number and polarity in Drosophila

19 March 2017

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Sonic hedgehog ligand partners with caveolin-1 for intracellular transport

19 March 2017

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The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice

19 March 2017

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Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway

19 March 2017

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Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

19 March 2017

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19 March 2017

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Practical application of ontologies to annotate and analyse large scale raw mouse phenotype data

7 April 2017

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The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

12 September 2017

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The Comparative Toxicogenomics Database facilitates identification and understanding of chemical-gene-disease associations: arsenic as a case study.

12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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From genotype to phenotype: linking bioinformatics and medical informatics ontologies

12 September 2017

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12 September 2017

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12 September 2017

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12 September 2017

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Expression profiling identifies novel Hh/Gli-regulated genes in developing zebrafish embryos

12 September 2017

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12 September 2017

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Nodal signaling is required for closure of the anterior neural tube in zebrafish

12 September 2017

1 reference

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The Zebrafish Information Network: the zebrafish model organism database provides expanded support for genotypes and phenotypes

12 September 2017

1 reference

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12 September 2017

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Connecting evolutionary morphology to genomics using ontologies: a case study from Cypriniformes including zebrafish

12 September 2017

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12 September 2017

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12 September 2017

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Phenotype ontologies: the bridge between genomics and evolution

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

A new method to measure the semantic similarity of GO terms

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

The foundational model of anatomy: a template for the symbolic representation of multi-scale physiological functions

12 September 2017

1 reference

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Morphogen signaling at the vertebrate growth cone: a few cases or a general strategy?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Robo2 is required for establishment of a precise glomerular map in the zebrafish olfactory system

12 September 2017

1 reference

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Anatomics: the intersection of anatomy and bioinformatics

12 September 2017

1 reference

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Subfunction partitioning, the teleost radiation and the annotation of the human genome.

12 September 2017

1 reference

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12 September 2017

Ontologies for behavior

1 reference

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Wnt signalling: a moving picture emerges from van gogh

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Regulation of dharma/bozozok by the Wnt pathway

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

From genotype to phenotype: buffering mechanisms and the storage of genetic information

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Comparative synteny cloning of zebrafish you-too: mutations in the Hedgehog target gli2 affect ventral forebrain patterning

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Biochemical evidence that patched is the Hedgehog receptor

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Genetic analysis of zebrafish gli1 and gli2 reveals divergent requirements for gli genes in vertebrate development

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

The u-boot mutation identifies a Hedgehog-regulated myogenic switch for fiber-type diversification in the zebrafish embryo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Paralogous Hox genes: function and regulation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Zebrafish colgate/hdac1 functions in the non-canonical Wnt pathway during axial extension and in Wnt-independent branchiomotor neuron migration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Dickkopf-1 regulates gastrulation movements by coordinated modulation of Wnt/beta catenin and Wnt/PCP activities, through interaction with the Dally-like homolog Knypek

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Direct action of the nodal-related signal cyclops in induction of sonic hedgehog in the ventral midline of the CNS.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

Characterisation of a second patched gene in the zebrafish Danio rerio and the differential response of patched genes to Hedgehog signalling

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

bozozok directly represses bmp2b transcription and mediates the earliest dorsoventral asymmetry of bmp2b expression in zebrafish

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Elements of morphology: introduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Inactivation of dispatched 1 by the chameleon mutation disrupts Hedgehog signalling in the zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Hhip regulates zebrafish muscle development by both sequestering Hedgehog and modulating localization of Smoothened

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Scube2 mediates Hedgehog signalling in the zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Axon sorting in the optic tract requires HSPG synthesis by ext2 (dackel) and extl3 (boxer).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Abrogation of heparan sulfate synthesis in Drosophila disrupts the Wingless, Hedgehog and Decapentaplegic signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

HSPG synthesis by zebrafish Ext2 and Extl3 is required for Fgf10 signalling during limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Histone deacetylase 1 is essential for oligodendrocyte specification in the zebrafish CNS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Wnt signals are targets and mediators of Gli function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Combined activity of the two Gli2 genes of zebrafish play a major role in Hedgehog signaling during zebrafish neurodevelopment

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Inhibition of BMP signaling during zebrafish fin regeneration disrupts fin growth and scleroblasts differentiation and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Tbx24, encoding a T-box protein, is mutated in the zebrafish somite-segmentation mutant fused somites

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Mutation of zebrafish caf-1b results in S phase arrest, defective differentiation, and p53-mediated apoptosis during organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Analysis of zebrafish sidetracked mutants reveals a novel role for Plexin A3 in intraspinal motor axon guidance

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1000247

Wnt5 is required for tail formation in the zebrafish embryo.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774506

The nieuwkoid/dharma homeobox gene is essential for bmp2b repression in the zebrafish pregastrula

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/19956802

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Depletion of beta-COP reveals a role for COP-I in compartmentalization of secretory compartments and in biosynthetic transport of caveolin-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/19956802

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PBIO.1000247

1 reference

release_afqpxkwuwnbrze4bawkwwln2ea

Fatcat ID

0 references

1 reference

1 reference

19956802

1 reference