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Search results 1 to 100 out of 145 for Rpgrip1l

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Hits by Pathway

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Hits by Strain

Type Details Score
Gene
23322 | RPGRIP1L
Type: gene
Organism: human
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Gene
100271765 | rpgrip1l
Type: gene
Organism: frog, western clawed
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Gene
307724 | Rpgrip1l
Type: gene
Organism: rat
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Gene
487278 | RPGRIP1L
Type: gene
Organism: dog, domestic
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Gene
454089 | RPGRIP1L
Type: gene
Organism: chimpanzee
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Gene
518659 | RPGRIP1L
Type: gene
Organism: cattle
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Gene
425392 | RPGRIP1L
Type: gene
Organism: chicken
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Gene
557688 | rpgrip1l
Type: gene
Organism: zebrafish
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Gene
697345 | RPGRIP1L
Type: gene
Organism: macaque, rhesus
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Protein Coding Gene
MGI:1920563 | Rpgrip1l
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Domain
IPR031136 | RPGRIP1L
Type: Family
Description: The human RPGRIP1L gene is one of the causal genes in Meckel and Joubert type B syndromes, two autosomal-recessive multisystem ciliopathies []. RPGRIP1L (also called MKS5, NPHP-8, and for the mouse gene, Ftm, Fantom) is required from developmental processes such as the establishment of left-right asymmetry and patterning of the neural tube and the limbs [], and ventricular septal development []. The protein is mainly found at the ciliary transition zone, where it forms a complex with nephrocystin-1 and nephrocystin-4 [, ]. RPGRIP1L is essential for hair follicle morphogenesis []and for planar cell polarity In the mouse cochlea and in the zebrafish floor plate [].
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Publication
25398052 | J:218613
First Author: Chen J
Year: 2015
Journal: J Invest Dermatol
Title: The ciliopathy gene Rpgrip1l is essential for hair follicle development.
Volume: 135
Issue: 3
Pages: 701-709
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Publication
22927466 | J:190739
First Author: Mahuzier A
Year: 2012
Journal: J Cell Biol
Title: Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity.
Volume: 198
Issue: 5
Pages: 927-40
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Publication
17558409 | J:123018
First Author: Delous M
Year: 2007
Journal: Nat Genet
Title: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Volume: 39
Issue: 7
Pages: 875-81
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Publication
17553904 | J:122745
First Author: Vierkotten J
Year: 2007
Journal: Development
Title: Ftm is a novel basal body protein of cilia involved in Shh signalling.
Volume: 134
Issue: 14
Pages: 2569-77
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Publication
23469020 | J:199499
First Author: Gerhardt C
Year: 2013
Journal: PLoS One
Title: The ciliary protein Ftm is required for ventricular wall and septal development.
Volume: 8
Issue: 2
Pages: e57545
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Publication
21565611 | J:173396
First Author: Sang L
Year: 2011
Journal: Cell
Title: Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Volume: 145
Issue: 4
Pages: 513-28
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Publication
30728336 | J:309339
 
First Author: Wang L
Year: 2019
Journal: JCI Insight
Title: Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development.
Volume: 4
Issue: 3
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Publication
27064284 | J:234938
First Author: Stratigopoulos G
Year: 2016
Journal: J Clin Invest
Title: Hypomorphism of Fto and Rpgrip1l causes obesity in mice.
Volume: 126
Issue: 5
Pages: 1897-910
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Publication
30689641 | J:272423
First Author: Choi YJ
Year: 2019
Journal: PLoS Genet
Title: RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis.
Volume: 15
Issue: 1
Pages: e1007914
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Publication
26150391 | J:226932
First Author: Gerhardt C
Year: 2015
Journal: J Cell Biol
Title: The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium.
Volume: 210
Issue: 1
Pages: 115-33
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Publication
29372668 | J:310230
First Author: Struchtrup A
Year: 2018
Journal: Autophagy
Title: The ciliary protein RPGRIP1L governs autophagy independently of its proteasome-regulating function at the ciliary base in mouse embryonic fibroblasts.
Volume: 14
Issue: 4
Pages: 567-583
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Protein
D6RIK9
Organism: Mus musculus/domesticus
Length: 211  
Fragment?: false
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Protein
D3Z0V3
Organism: Mus musculus/domesticus
Length: 78  
Fragment?: true
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Protein
A0A1B0GS23
Organism: Mus musculus/domesticus
Length: 77  
Fragment?: true
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Publication
16339905 | -
First Author: Roepman R
Year: 2005
Journal: Proc Natl Acad Sci U S A
Title: Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
Volume: 102
Issue: 51
Pages: 18520-5
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Protein
A0A1B0GQY2
Organism: Mus musculus/domesticus
Length: 253  
Fragment?: true
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Protein
Q8CG73
Organism: Mus musculus/domesticus
Length: 1264  
Fragment?: false
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Publication
29466054 | J:267915
First Author: Carli JFM
Year: 2018
Journal: FASEB J
Title: The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function.
Volume: 32
Issue: 7
Pages: 3946-3956
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Publication
24807221 | J:215262
First Author: Stratigopoulos G
Year: 2014
Journal: Cell Metab
Title: Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
Volume: 19
Issue: 5
Pages: 767-79
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Publication
36438572 | J:332050
 
First Author: Reissig LF
Year: 2022
Journal: Front Cell Dev Biol
Title: Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants.
Volume: 10
Pages: 1006620
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Publication
29487109 | J:260445
 
First Author: Wang C
Year: 2018
Journal: Development
Title: Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse.
Volume: 145
Issue: 6
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Publication
26071364 | J:225435
First Author: Laclef C
Year: 2015
Journal: Hum Mol Genet
Title: The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.
Volume: 24
Issue: 17
Pages: 4997-5014
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Protein Coding Gene
MGP_CAROLIEiJ_G0031368 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0033931 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0033914 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0033840 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0033906 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0033616 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_1920563 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0034427 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0032948 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0033592 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0033746 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0033693 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0033838 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0033735 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0034445 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0032650 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0033060 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0022967 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0032487 | -
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression
GXD Expression
   
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Female
Emaps: EMAPS:1796220
Stage: TS20
Assay Id: MGI:4938189
Age: embryonic day 12.0
Image: 1
Specimen Label: E12.0
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
   
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Male
Emaps: EMAPS:1797220
Stage: TS20
Assay Id: MGI:4938189
Age: embryonic day 12.0
Image: 1
Specimen Label: E12.0
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
   
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Female
Emaps: EMAPS:1796221
Stage: TS21
Assay Id: MGI:4938189
Age: embryonic day 13.5
Image: 1
Specimen Label: E13.5
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
   
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Male
Emaps: EMAPS:1797221
Stage: TS21
Assay Id: MGI:4938189
Age: embryonic day 13.5
Image: 1
Specimen Label: E13.5
Detected: true
Specimen Num: 4
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GXD Expression
GXD Expression
   
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Female
Emaps: EMAPS:1796223
Stage: TS23
Assay Id: MGI:4938189
Age: embryonic day 15.5
Image: 1
Specimen Label: E15.5
Detected: true
Specimen Num: 5
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GXD Expression
GXD Expression
   
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-25
Strength: Present
Sex: Male
Emaps: EMAPS:1797223
Stage: TS23
Assay Id: MGI:4938189
Age: embryonic day 15.5
Image: 1
Specimen Label: E15.5
Detected: true
Specimen Num: 6
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GXD Expression
GXD Expression
   
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-28
Strength: Present
Sex: Female
Emaps: EMAPS:1796221
Stage: TS21
Assay Id: MGI:4938997
Age: embryonic day 13.5
Image: 6
Specimen Label: Ftm
Detected: true
Specimen Num: 7
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GXD Expression
GXD Expression
   
Probe: MGI:4938184
Assay Type: RT-PCR
Annotation Date: 2011-02-28
Strength: Present
Sex: Male
Emaps: EMAPS:1797221
Stage: TS21
Assay Id: MGI:4939004
Age: embryonic day 13.5
Image: 6
Specimen Label: Ftm
Detected: true
Specimen Num: 7
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GXD Expression
GXD Expression
Probe: MGI:5473408
Assay Type: Immunohistochemistry
Annotation Date: 2013-04-09
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1906126
Pattern: Regionally restricted
Stage: TS26
Assay Id: MGI:5473410
Age: embryonic day 18.5
Image: 1a
Note: Expression is present at the kinocilium transition zone, between the basal body and the axoneme.
Specimen Label: 1a
Detected: true
Specimen Num: 1
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Publication
22832925 | J:188633
First Author: Ghosh AK
Year: 2012
Journal: Am J Physiol Renal Physiol
Title: 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide.
Volume: 303
Issue: 8
Pages: F1225-9
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Publication
11956760 | J:76079
First Author: Peters T
Year: 2002
Journal: Mamm Genome
Title: The mouse Fused toes (Ft) mutation is the result of a 1.6-Mb deletion including the entire Iroquois B gene cluster.
Volume: 13
Issue: 4
Pages: 186-8
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Publication
18297065 | J:135664
First Author: Han YG
Year: 2008
Journal: Nat Neurosci
Title: Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells.
Volume: 11
Issue: 3
Pages: 277-84
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Publication
18256137 | J:133509
First Author: Stratigopoulos G
Year: 2008
Journal: Am J Physiol Regul Integr Comp Physiol
Title: Regulation of Fto/Ftm gene expression in mice and humans.
Volume: 294
Issue: 4
Pages: R1185-96
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Publication
21293032 | J:173702
First Author: Kim B
Year: 2011
Journal: Biol Reprod
Title: The fused toes locus is essential for somatic-germ cell interactions that foster germ cell maturation in developing gonads in mice.
Volume: 84
Issue: 5
Pages: 1024-32
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Publication
30133325 | J:280465
First Author: Lewis WR
Year: 2019
Journal: FASEB J
Title: Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone.
Volume: 33
Issue: 1
Pages: 1440-1455
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Publication
21490064 | J:171429
First Author: Besse L
Year: 2011
Journal: Development
Title: Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing.
Volume: 138
Issue: 10
Pages: 2079-88
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Publication
21539829 | J:173635
First Author: Lieven O
Year: 2011
Journal: Dev Biol
Title: The Dkk1 dose is critical for eye development.
Volume: 355
Issue: 1
Pages: 124-37
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Publication
20969841 | J:168037
First Author: Kim B
Year: 2011
Journal: Dev Biol
Title: Primordial germ cell proliferation is impaired in Fused Toes mutant embryos.
Volume: 349
Issue: 2
Pages: 417-26
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Publication
30692221 | J:273860
First Author: Andreu-Cervera A
Year: 2019
Journal: J Neurosci
Title: The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling.
Volume: 39
Issue: 13
Pages: 2398-2415
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Publication
24721909 | J:209956
 
First Author: Liakath-Ali K
Year: 2014
Journal: Nat Commun
Title: Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.
Volume: 5
Pages: 3540
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Publication
32907846 | J:297063
 
First Author: Najarro EH
Year: 2020
Journal: Development
Title: Dual regulation of planar polarization by secreted Wnts and Vangl2 in the developing mouse cochlea.
Volume: 147
Issue: 19
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Publication
38822427 | J:350444
First Author: Martinez-Mayer J
Year: 2024
Journal: Genome Med
Title: Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
Volume: 16
Issue: 1
Pages: 75
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Publication
- | J:239583
     
First Author: Mouse Genome Informatics and the Consortium: Deciphering the Mechanisms of Developmental Disorders (DMDD)
Year: 2017
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from Deciphering the Mechanisms of Developmental Disorders (DMDD)
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Publication
29539633 | J:261316
First Author: Perez-Garcia V
Year: 2018
Journal: Nature
Title: Placentation defects are highly prevalent in embryonic lethal mouse mutants.
Volume: 555
Issue: 7697
Pages: 463-468
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Publication
- | J:175295
     
First Author: Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP)
Year: 2011
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal
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Publication
30973865 | J:274872
First Author: Ingham NJ
Year: 2019
Journal: PLoS Biol
Title: Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
Volume: 17
Issue: 4
Pages: e3000194
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Publication
- | J:155845
     
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
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Publication
- | J:211773
     
First Author: Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC)
Year: 2014
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database
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Publication
- | J:155856
       
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
11217851 | J:65060
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
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Publication
38355793 | J:345621
First Author: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
14610273 | J:86696
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
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Publication
- | J:293217
       
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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Publication
21677750 | J:173534
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
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Publication
- | J:141210
     
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
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
12466851 | J:80000
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
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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