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Search results 1 to 100 out of 276 for Evc

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0.046s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Protein
Organism: Mus musculus/domesticus
Length: 167  
Fragment?: true
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Domain
Type: Family
Description: EvC complex member EVC is a protein mutated in the human chondroectodermal dysplasia Ellis-van Creveld syndrome. EVC acts as a positive mediator of Hedgehog signaling. It is indispensable for normal endochondral growth and skeletal development []. Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC, also known as chondroectodermal dysplasia) and acrofacial dysostosis Weyers type (WAD, also known as Curry-Hall syndrome) in human []. EVC is an autosomal recessive disorder characterised by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. WAD is an autosomal dominant disorder characterised by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome [, ].
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Ruiz-Perez VL
Year: 2007
Journal: Development
Title: Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.
Volume: 134
Issue: 16
Pages: 2903-12
Publication
First Author: Ruiz-Perez VL
Year: 2000
Journal: Nat Genet
Title: Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Volume: 24
Issue: 3
Pages: 283-6
Protein
Organism: Mus musculus/domesticus
Length: 627  
Fragment?: false
Publication  
First Author: Blair HJ
Year: 2011
Journal: BMC Biol
Title: Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
Volume: 9
Pages: 14
Publication
First Author: Umm-E-Kalsoom
Year: 2010
Journal: Pediatr Int
Title: A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
Volume: 52
Issue: 2
Pages: 240-6
Publication  
First Author: Ulucan H
Year: 2008
Journal: BMC Med Genet
Title: Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
Volume: 9
Pages: 92
Publication
First Author: Nakatomi M
Year: 2013
Journal: J Dent Res
Title: Evc regulates a symmetrical response to Shh signaling in molar development.
Volume: 92
Issue: 3
Pages: 222-8
Protein
Organism: Mus musculus/domesticus
Length: 1005  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 144  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 629  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 857  
Fragment?: false
Publication
First Author: Pacheco M
Year: 2012
Journal: Bone
Title: Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.
Volume: 50
Issue: 1
Pages: 28-41
Gene
Type: gene
Organism: human
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression      
Probe: MGI:5502597
Assay Type: RT-PCR
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610516
Stage: TS16
Assay Id: MGI:5502653
Age: embryonic day 10.0
Specimen Label: 10 dpc Heart
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:5502597
Assay Type: RT-PCR
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610519
Stage: TS19
Assay Id: MGI:5502653
Age: embryonic day 11.5
Specimen Label: 11.5 dpc Heart
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:5502597
Assay Type: RT-PCR
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610521
Stage: TS21
Assay Id: MGI:5502653
Age: embryonic day 13.5
Specimen Label: 13.5 dpc Heart
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:5502597
Assay Type: RT-PCR
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610523
Stage: TS23
Assay Id: MGI:5502653
Age: embryonic day 15.5
Specimen Label: 15.5 dpc Heart
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:6781696
Assay Type: RT-PCR
Annotation Date: 2021-10-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3673015
Stage: TS15
Assay Id: MGI:6781743
Age: embryonic day 9.5
Specimen Label: pSHF
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:6781696
Assay Type: RT-PCR
Annotation Date: 2021-10-25
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:6781743
Age: embryonic day 9.5
Specimen Label: embryo
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:6781696
Assay Type: RT-PCR
Annotation Date: 2024-04-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:7618290
Age: embryonic day 12.0
Specimen Label: E12
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:6781696
Assay Type: RT-PCR
Annotation Date: 2024-04-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603920
Stage: TS20
Assay Id: MGI:7618290
Age: embryonic day 12.0
Specimen Label: E12 -/-
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:6781696
Assay Type: RT-PCR
Annotation Date: 2024-04-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7618296
Age: embryonic day 9.5
Specimen Label: E12 -/-
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752923
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5502649
Age: embryonic day 15.5
Specimen Label: 3K
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1654223
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:5502612
Age: embryonic day 15.5
Note: Expression is in the cartilage primordium of the nasal bone.
Specimen Label: 2A
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1654223
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:5502649
Age: embryonic day 15.5
Note: Expression is in the cartilage primordium of the nasal bone.
Specimen Label: 3M
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3274023
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5502612
Age: embryonic day 15.5
Specimen Label: 2B
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3274023
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5502649
Age: embryonic day 15.5
Specimen Label: 3L
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1787223
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:5502612
Age: embryonic day 15.5
Note: Expression is in the cusions of the forming pulmonary valve.
Specimen Label: 2O,P,Q
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610517
Pattern: Regionally restricted
Stage: TS17
Assay Id: MGI:5502650
Age: embryonic day 10.5
Note: Expression is in the dorsal mesenchymal protrusion.
Specimen Label: 6G
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1860123
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:5502612
Age: embryonic day 15.5
Note: Expression is in the muscular walls of the aortic trunk.
Specimen Label: 2O,P,Q
Detected: true
Specimen Num: 6
GXD Expression  
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1701121
Pattern: Regionally restricted
Stage: TS21
Assay Id: MGI:5502650
Age: embryonic day 13.5
Note: Expression is at the tip.
Specimen Label: S1A
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1701120
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5502650
Age: embryonic day 12.5
Note: Expression is at the tip of the atrial septum.
Specimen Label: 6B
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1767821
Pattern: Regionally restricted
Stage: TS21
Assay Id: MGI:5502650
Age: embryonic day 13.5
Note: Expression is in chondrocytes.
Specimen Label: 6C
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1872123
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5502612
Age: embryonic day 15.5
Specimen Label: 2B
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1768223
Pattern: Not Specified
Stage: TS23
Assay Id: MGI:5502612
Age: embryonic day 15.5
Specimen Label: 2B
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1634621
Pattern: Regionally restricted
Stage: TS21
Assay Id: MGI:5502612
Age: embryonic day 13.5
Note: Expression is in the connective tissue.
Specimen Label: 2H
Detected: true
Specimen Num: 5
GXD Expression  
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1701321
Pattern: Regionally restricted
Stage: TS21
Assay Id: MGI:5502612
Age: embryonic day 13.5
Note: Expression is at the tip.
Specimen Label: 2F
Detected: true
Specimen Num: 3
GXD Expression  
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1701317
Pattern: Regionally restricted
Stage: TS17
Assay Id: MGI:5502650
Age: embryonic day 10.5
Note: Expression is at the tip of the primary septum.
Specimen Label: 4B
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1701319
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5502650
Age: embryonic day 11.5
Note: Expression is at the tip of the primary septum.
Specimen Label: 4D
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1701321
Pattern: Regionally restricted
Stage: TS21
Assay Id: MGI:5502650
Age: embryonic day 13.5
Note: Expression is at the tip of the primary septum.
Specimen Label: 4G
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1701523
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:5502612
Age: embryonic day 15.5
Note: Expression is in the muscular walls.
Specimen Label: 2O,P,Q
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5502602
Assay Type: RNA in situ
Annotation Date: 2013-08-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1761821
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:5502612
Age: embryonic day 13.5
Specimen Label: 2G
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1761820
Pattern: Not Specified
Stage: TS20
Assay Id: MGI:5502650
Age: embryonic day 12.5
Specimen Label: 4F
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1761821
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:5502650
Age: embryonic day 13.5
Specimen Label: 4G
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1761821
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:5502650
Age: embryonic day 13.5
Specimen Label: S1C
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1761821
Pattern: Not Specified
Stage: TS21
Assay Id: MGI:5502650
Age: embryonic day 13.5
Specimen Label: 6C inset
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:5502597
Assay Type: RT-PCR
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610520
Stage: TS20
Assay Id: MGI:5502653
Age: embryonic day 12.5
Specimen Label: 12.5 dpc Heart
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:6781696
Assay Type: RT-PCR
Annotation Date: 2024-04-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603915
Stage: TS15
Assay Id: MGI:7618296
Age: embryonic day 9.5
Specimen Label: E12
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5502609
Assay Type: Immunohistochemistry
Annotation Date: 2013-08-27
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1701320
Pattern: Regionally restricted
Stage: TS20
Assay Id: MGI:5502650
Age: embryonic day 12.5
Note: Expression is at the tip and edge of the primary septum.
Specimen Label: 4F
Detected: true
Specimen Num: 3
Publication
First Author: Caparrós-Martín JA
Year: 2013
Journal: Hum Mol Genet
Title: The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
Volume: 22
Issue: 1
Pages: 124-39
Publication
First Author: Pusapati GV
Year: 2014
Journal: Dev Cell
Title: EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.
Volume: 28
Issue: 5
Pages: 483-96
Publication
First Author: Sund KL
Year: 2009
Journal: Hum Mol Genet
Title: Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
Volume: 18
Issue: 10
Pages: 1813-24
Publication
First Author: Wang Y
Year: 2024
Journal: Sci Signal
Title: TMEM216 promotes primary ciliogenesis and Hedgehog signaling through the SUFU-GLI2/GLI3 axis.
Volume: 17
Issue: 820
Pages: eabo0465
Publication
First Author: Hurle B
Year: 2001
Journal: Genomics
Title: Physical mapping of the mouse tilted locus identifies an association between human deafness loci DFNA6/14 and vestibular system development.
Volume: 77
Issue: 3
Pages: 189-99
Publication
First Author: Burnicka-Turek O
Year: 2016
Journal: Hum Mol Genet
Title: Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
Volume: 25
Issue: 14
Pages: 3011-3028
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication      
First Author: Velocigene
Year: 2008
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals)
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer