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Search results 1 to 100 out of 116 for Rtel1

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Hits by Pathway

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Hits by Strain

Type Details Score
Gene
51750 | RTEL1
Type: gene
Organism: human
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Gene
100487920 | rtel1
Type: gene
Organism: frog, western clawed
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Gene
119865735 | RTEL1
Type: gene
Organism: dog, domestic
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Gene
362288 | Rtel1
Type: gene
Organism: rat
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Gene
746784 | RTEL1
Type: gene
Organism: chimpanzee
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Gene
505721 | RTEL1
Type: gene
Organism: cattle
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Gene
419262 | RTEL1
Type: gene
Organism: chicken
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Gene
503732 | rtel1
Type: gene
Organism: zebrafish
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Gene
719519 | RTEL1
Type: gene
Organism: macaque, rhesus
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Protein Domain
IPR030845 | RTEL1
Type: Family
Description: Regulator of telomere elongation helicase 1 (RTEL1) is a animal functional analogue of yeast Srs2, which is a DNA helicase and DNA-dependent ATPase involved in DNA repair and checkpoint recovery []. RTEL1 is an essential DNA helicase that disassembles a variety of DNA secondary structures to facilitate DNA replication, repair, and recombination processes, and to maintain telomere integrity [, , ]. It is recruited by Trf2 to telomeres in S phase to promote T-Loop unwinding []. It is also required for the export and the correct cytoplasmic trafficking of the small nuclear (sn) RNA pre-U2, a component of themajor spliceosome complex []. Constitutional mutations in the RTEL1 gene cause Hoyeraal-Hreidarsson syndrome (HHS), a severe form of Dyskeratosis congenita characterised by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction [, ].
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Protein Coding Gene
MGI:2139369 | Rtel1
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
25620558 | J:219962
First Author: Sarek G
Year: 2015
Journal: Mol Cell
Title: TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
Volume: 57
Issue: 4
Pages: 622-35
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Publication
33357438 | J:323531
First Author: Kotsantis P
Year: 2020
Journal: Cell Rep
Title: RTEL1 Regulates G4/R-Loops to Avert Replication-Transcription Collisions.
Volume: 33
Issue: 12
Pages: 108546
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Publication
18957201 | -
First Author: Barber LJ
Year: 2008
Journal: Cell
Title: RTEL1 maintains genomic stability by suppressing homologous recombination.
Volume: 135
Issue: 2
Pages: 261-71
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Publication
23453664 | -
First Author: Walne AJ
Year: 2013
Journal: Am J Hum Genet
Title: Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Volume: 92
Issue: 3
Pages: 448-53
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Publication
32460026 | J:292193
First Author: Bellelli R
Year: 2020
Journal: Cell Rep
Title: Synthetic Lethality between DNA Polymerase Epsilon and RTEL1 in Metazoan DNA Replication.
Volume: 31
Issue: 8
Pages: 107675
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Publication
22593209 | J:197762
First Author: Uringa EJ
Year: 2012
Journal: Mol Biol Cell
Title: RTEL1 contributes to DNA replication and repair and telomere maintenance.
Volume: 23
Issue: 14
Pages: 2782-92
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Publication
22579284 | J:222674
First Author: Vannier JB
Year: 2012
Journal: Cell
Title: RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity.
Volume: 149
Issue: 4
Pages: 795-806
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Publication
24115439 | J:202812
First Author: Vannier JB
Year: 2013
Journal: Science
Title: RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication.
Volume: 342
Issue: 6155
Pages: 239-42
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Publication
23959892 | J:200969
First Author: Deng Z
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Volume: 110
Issue: 36
Pages: E3408-16
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Publication
22238064 | J:196545
First Author: Wu X
Year: 2012
Journal: Transgenic Res
Title: Generation of a mouse model for studying the role of upregulated RTEL1 activity in tumorigenesis.
Volume: 21
Issue: 5
Pages: 1109-15
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Publication
- | J:344245
     
First Author: Kaestner K
Year: 2024
Journal: Direct Data Submission
Title: Separation of telomere protection from length regulation by different point mutations at methionine 492 of RTEL1 in a mouse model of Separation of telomere protection from length regulation by different point mutations at methionine 492 of Hoyeraal-Hreidarsson syndrome.
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Publication
24009516 | -
First Author: Ballew BJ
Year: 2013
Journal: PLoS Genet
Title: A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Volume: 9
Issue: 8
Pages: e1003695
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Publication
25628358 | -
First Author: Schertzer M
Year: 2015
Journal: Nucleic Acids Res
Title: Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.
Volume: 43
Issue: 3
Pages: 1834-47
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Publication
24582487 | -
First Author: Vannier JB
Year: 2014
Journal: Trends Cell Biol
Title: RTEL1: functions of a disease-associated helicase.
Volume: 24
Issue: 7
Pages: 416-25
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Protein
Q0VGM9
Organism: Mus musculus/domesticus
Length: 1203  
Fragment?: false
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Publication
30196476 | J:267997
First Author: Seshadri N
Year: 2018
Journal: Transgenic Res
Title: Generation of an Rtel1-CreERT2 knock-in mouse model for lineage tracing RTEL1+ stem cells during development.
Volume: 27
Issue: 6
Pages: 571-578
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Publication
29351848 | J:257566
First Author: León-Ortiz AM
Year: 2018
Journal: Mol Cell
Title: A Distinct Class of Genome Rearrangements Driven by Heterologous Recombination.
Volume: 69
Issue: 2
Pages: 292-305.e6
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Publication
37872177 | J:344243
First Author: Smoom R
Year: 2023
Journal: Nat Commun
Title: Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1.
Volume: 14
Issue: 1
Pages: 6708
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Protein Coding Gene
MGP_CAROLIEiJ_G0024804 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0027019 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0026985 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0026956 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0026994 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0026735 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2139369 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0027440 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0026194 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0026712 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0026850 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0026816 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0026951 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0026835 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0027499 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0025930 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0026266 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0026252 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0025730 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
18064678 | J:130490
First Author: Wu X
Year: 2007
Journal: Genesis
Title: Establishment of conditional knockout alleles for the gene encoding the regulator of telomere length (RTEL).
Volume: 45
Issue: 12
Pages: 788-92
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GXD Expression
GXD Expression
   
Probe: MGI:7442641
Assay Type: RNA in situ
Annotation Date: 2023-03-09
Strength: Present
Sex: Male
Emaps: EMAPS:3526628
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:7442643
Age: postnatal adult
Specimen Label: 2a
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
 
Probe: MGI:3803757
Assay Type: In situ reporter (knock in)
Annotation Date: 2023-03-09
Strength: Present
Sex: Male
Emaps: EMAPS:3147628
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:7442440
Age: postnatal adult
Note: Expression is seen in spermatogonial cells located along the base membrane of the seminiferous tubule.
Specimen Label: 1c
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
 
Probe: MGI:3803757
Assay Type: In situ reporter (knock in)
Annotation Date: 2023-03-09
Strength: Present
Sex: Male
Emaps: EMAPS:1797528
Pattern: Regionally restricted
Stage: TS28
Assay Id: MGI:7442440
Age: postnatal adult
Note: Expression is seen in spermatogonial cells located along the base membrane of the seminiferous tubule.
Specimen Label: 1c
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
 
Probe: MGI:5765991
Assay Type: RNA in situ
Annotation Date: 2016-05-02
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1604615
Pattern: Not Specified
Stage: TS15
Assay Id: MGI:5765993
Age: embryonic day 9.5
Image: 2K right
Specimen Label: 2K right
Detected: true
Specimen Num: 1
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Publication
29290468 | J:259106
First Author: Margalef P
Year: 2018
Journal: Cell
Title: Stabilization of Reversed Replication Forks by Telomerase Drives Telomere Catastrophe.
Volume: 172
Issue: 3
Pages: 439-453.e14
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Publication
15210109 | J:91351
First Author: Ding H
Year: 2004
Journal: Cell
Title: Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein.
Volume: 117
Issue: 7
Pages: 873-86
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Publication
20858271 | J:165972
 
First Author: Wu X
Year: 2010
Journal: BMC Dev Biol
Title: EMG1 is essential for mouse pre-implantation embryo development.
Volume: 10
Pages: 99
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Publication
- | J:342612
       
First Author: UniProt curators
Year: 2014
Title: Electronic Gene Ontology annotations created by transferring manual GO annotations between related proteins based on shared sequence features
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Publication
- | J:77000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: MGC Data curation in Mouse Genome Informatics
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Publication
- | J:342608
       
First Author: GO Central curators, GOA curators, Rhea curators
Year: 2020
Title: Automatic Gene Ontology annotation based on Rhea mapping
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Publication
- | J:72245
       
First Author: GOA curators, MGI curators
Year: 2001
Title: Gene Ontology annotation based on Enzyme Commission mapping
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Publication
- | J:84900
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Journal: Database Download
Title: Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database
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Publication
12520002 | J:91812
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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Publication
- | J:57656
     
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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Publication
- | J:157065
     
First Author: Helmholtz Zentrum Muenchen GmbH
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu)
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Publication
- | J:85000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
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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
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
- | 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:60000
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
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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
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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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: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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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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DO Term
DOID:0070022 | autosomal recessive dyskeratosis congenita 5
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DO Term
DOID:0070020 | autosomal dominant dyskeratosis congenita 4
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Allele
Rtel1<tm4.1(cre/ERT2)Hdin> | MGI:7442434
Name: regulator of telomere elongation helicase 1; targeted mutation 4.1, Hao Ding
Allele Type: Targeted
Attribute String: Inducible, Null/knockout, Recombinase
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Allele
Rtel1<em2Khk> | MGI:7574448
Name: regulator of telomere elongation helicase 1; endonuclease-mediated mutation 2, Klaus H Kaestner
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
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Genotype
Genotype
Symbol: Rtel1/Rtel1<+>
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: ht
Has Mutant Allele: true
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Publication
10931920 | -
First Author: L Holloway S
Year: 2000
Journal: Nucleic Acids Res
Title: CHL1 is a nuclear protein with an essential ATP binding site that exhibits a size-dependent effect on chromosome segregation.
Volume: 28
Issue: 16
Pages: 3056-64
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Publication
15226378 | -
First Author: Petronczki M
Year: 2004
Journal: J Cell Sci
Title: Sister-chromatid cohesion mediated by the alternative RF-CCtf18/Dcc1/Ctf8, the helicase Chl1 and the polymerase-alpha-associated protein Ctf4 is essential for chromatid disjunction during meiosis II.
Volume: 117
Issue: Pt 16
Pages: 3547-59
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Protein Domain
IPR013020 | Rad3/Chl1-like
Type: Family
Description: This entry includes a group of ATP-dependent helicases, including Rad3/XPD (ERCC2), Chl1/DDX11, DDX12, RTEL1 and BRIP1. Rad3/XPD is a subunit of RNA polII initiation factor TFIIH and of Nucleotide Excision Repair Factor 3 (NEF3) [, ]. DDX11/Chl1 is required for sister-chromatid cohesion [, , ]. Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS). It is a syndrome characterised by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation [].
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Genotype
Genotype
Symbol: Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Rtel1/Rtel1<+>
Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ
Zygosity: cn
Has Mutant Allele: true
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Publication
8631896 | -
First Author: Sung P
Year: 1996
Journal: J Biol Chem
Title: Reconstitution of TFIIH and requirement of its DNA helicase subunits, Rad3 and Rad25, in the incision step of nucleotide excision repair.
Volume: 271
Issue: 18
Pages: 10821-6
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Publication
7961739 | -
First Author: Svejstrup JQ
Year: 1994
Journal: J Biol Chem
Title: RNA polymerase transcription factor IIH holoenzyme from yeast.
Volume: 269
Issue: 45
Pages: 28044-8
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