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Search results 301 to 400 out of 450 for Hexb

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Type Details Score
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6693092
Age: postnatal adult
Image: MRC Harwell_1521328
Specimen Label: MRC Harwell_1521328
Detected: true
Specimen Num: 1
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6693092
Age: postnatal adult
Image: MRC Harwell_1521329
Specimen Label: MRC Harwell_1521329
Detected: true
Specimen Num: 2
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1689428
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6693092
Age: postnatal adult
Image: MRC Harwell_1521331
Specimen Label: MRC Harwell_1521331
Detected: true
Specimen Num: 4
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1796228
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6693092
Age: postnatal adult
Image: MRC Harwell_1521334
Specimen Label: MRC Harwell_1521334
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:4424641
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1768022
Stage: TS22
Assay Id: MGI:5422240
Age: embryonic day 14.5
Note: Expression was not detected in the skull (base and vault).
Specimen Label: EN1496; Specimen N652
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:4424641
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:2672022
Stage: TS22
Assay Id: MGI:5422240
Age: embryonic day 14.5
Note: Expression was not detected in whisker follicle.
Specimen Label: EN1496; Specimen N652
Detected: false
Specimen Num: 1
Publication
First Author: Cachón-González MB
Year: 2014
Journal: Hum Mol Genet
Title: Reversibility of neuropathology in Tay-Sachs-related diseases.
Volume: 23
Issue: 3
Pages: 730-48
Publication  
First Author: Loth MK
Year: 2016
Journal: Neurobiol Dis
Title: TSPO in a murine model of Sandhoff disease: presymptomatic marker of neurodegeneration and disease pathophysiology.
Volume: 85
Pages: 174-186
Publication
First Author: Masuda T
Year: 2022
Journal: Nature
Title: Specification of CNS macrophage subsets occurs postnatally in defined niches.
Volume: 604
Issue: 7907
Pages: 740-748
Publication
First Author: Fukuishi N
Year: 2014
Journal: J Immunol
Title: Does β-hexosaminidase function only as a degranulation indicator in mast cells? The primary role of β-hexosaminidase in mast cell granules.
Volume: 193
Issue: 4
Pages: 1886-94
Publication  
First Author: Kanzaki S
Year: 2010
Journal: PLoS One
Title: Thymic alterations in GM2 gangliosidoses model mice.
Volume: 5
Issue: 8
Publication
First Author: Martino S
Year: 2009
Journal: J Neurochem
Title: Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology.
Volume: 109
Issue: 1
Pages: 135-47
Publication
First Author: Suzuki K
Year: 2016
Journal: Exp Neurol
Title: Accumulated α-synuclein affects the progression of GM2 gangliosidoses.
Volume: 284
Issue: Pt A
Pages: 38-49
Publication
First Author: Suzuki K
Year: 1997
Journal: J Neuropathol Exp Neurol
Title: Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology.
Volume: 56
Issue: 6
Pages: 693-703
Publication
First Author: Lee JP
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Chemical mutagenesis of a GPCR ligand: Detoxifying "inflammo-attraction" to direct therapeutic stem cell migration.
Volume: 117
Issue: 49
Pages: 31177-31188
Publication
First Author: Hepbildikler ST
Year: 2002
Journal: J Biol Chem
Title: Physiological substrates for human lysosomal beta -hexosaminidase S.
Volume: 277
Issue: 4
Pages: 2562-72
Publication
First Author: Akgoc Z
Year: 2015
Journal: J Lipid Res
Title: Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses.
Volume: 56
Issue: 5
Pages: 1006-13
Publication
First Author: Denny CA
Year: 2007
Journal: J Neurochem
Title: Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice.
Volume: 101
Issue: 5
Pages: 1294-302
Publication
First Author: Pelled D
Year: 2003
Journal: J Biol Chem
Title: Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin.
Volume: 278
Issue: 32
Pages: 29496-501
Publication  
First Author: Richardson K
Year: 2016
Journal: Behav Brain Res
Title: Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease.
Volume: 297
Pages: 213-23
Publication
First Author: Ohshima T
Year: 1997
Journal: Proc Natl Acad Sci U S A
Title: alpha-Galactosidase A deficient mice: a model of Fabry disease.
Volume: 94
Issue: 6
Pages: 2540-4
Publication
First Author: Gwynn B
Year: 1998
Journal: Mol Cell Biol
Title: Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse.
Volume: 18
Issue: 11
Pages: 6474-81
Publication
First Author: Huang JQ
Year: 1997
Journal: Hum Mol Genet
Title: Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
Volume: 6
Issue: 11
Pages: 1879-85
Publication  
First Author: Kot S
Year: 2021
Journal: Int J Mol Sci
Title: Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models.
Volume: 22
Issue: 13
Publication
First Author: Hooper AWM
Year: 2017
Journal: Hum Mol Genet
Title: Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice.
Volume: 26
Issue: 4
Pages: 661-673
Publication
First Author: Yuziuk JA
Year: 1998
Journal: J Biol Chem
Title: Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2.
Volume: 273
Issue: 1
Pages: 66-72
Publication
First Author: Kresse H
Year: 1981
Journal: J Biol Chem
Title: Liberation of N-acetylglucosamine-6-sulfate by human beta-N-acetylhexosaminidase A.
Volume: 256
Issue: 24
Pages: 12926-32
Publication
First Author: Killary AM
Year: 1986
Journal: Somat Cell Mol Genet
Title: Assignment of genes encoding dihydrofolate reductase and hexosaminidase B to Mus musculus chromosome 13.
Volume: 12
Issue: 6
Pages: 641-8
Publication
First Author: Della Fazia MA
Year: 1994
Journal: Biochem Biophys Res Commun
Title: Different expression of beta-N-acetylhexosaminidase in mouse tissues.
Volume: 199
Issue: 3
Pages: 1341-6
Publication
First Author: Johnson MD
Year: 1997
Journal: Mol Hum Reprod
Title: Genetic expression of hexokinase and glucose phosphate isomerase in late-stage mouse preimplantation embryos: transcription activities in glucose/phosphate-containing HTF and glucose/phosphate-free P1 media.
Volume: 3
Issue: 4
Pages: 351-7
Publication
First Author: Killary AM
Year: 1986
Journal: Am J Hum Genet
Title: Assignment of the genes encoding dihydrofolate reductase and hexosaminidase B to mouse Chromosome 13
Volume: 39
Issue: Suppl
Pages: A159 (Abstr.)
Publication
First Author: Cachón-González MB
Year: 2021
Journal: Hum Mol Genet
Title: Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease.
Volume: 30
Issue: 22
Pages: 2082-2099
Publication
First Author: Wu YP
Year: 2004
Journal: Proc Natl Acad Sci U S A
Title: Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice.
Volume: 101
Issue: 22
Pages: 8425-30
Publication
First Author: Liu Y
Year: 1999
Journal: J Clin Invest
Title: A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder.
Volume: 103
Issue: 4
Pages: 497-505
Publication
First Author: Kirkegaard T
Year: 2016
Journal: Sci Transl Med
Title: Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.
Volume: 8
Issue: 355
Pages: 355ra118
Publication
First Author: Abo-Ouf H
Year: 2013
Journal: Hum Mol Genet
Title: Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice.
Volume: 22
Issue: 19
Pages: 3960-75
Publication
First Author: Brandenstein L
Year: 2016
Journal: Hum Mol Genet
Title: Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7.
Volume: 25
Issue: 4
Pages: 777-91
Publication
First Author: Gushulak L
Year: 2012
Journal: J Biol Chem
Title: Hyaluronidase 1 and β-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation.
Volume: 287
Issue: 20
Pages: 16689-97
Publication  
First Author: Rehm A
Year: 2022
Journal: JCI Insight
Title: EBAG9 controls CD8+ T cell memory formation responding to tumor challenge in mice.
Volume: 7
Issue: 11
Publication
First Author: Gilbert F
Year: 1975
Journal: Proc Natl Acad Sci U S A
Title: Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.
Volume: 72
Issue: 1
Pages: 263-7
Publication
First Author: Kolter T
Year: 1998
Journal: J Inherit Metab Dis
Title: Glycosphingolipid degradation and animal models of GM2-gangliosidoses.
Volume: 21
Issue: 5
Pages: 548-63
Publication
First Author: Xue J
Year: 1996
Journal: Mamm Genome
Title: Structure and localization of the thrombin receptor gene on mouse chromosome 13.
Volume: 7
Issue: 8
Pages: 625-6
Publication
First Author: Veal EA
Year: 1995
Journal: Biochem Soc Trans
Title: Expression of c-fos and c-myc in satellite cell cultures from dystrophic mdx and control mouse muscle.
Volume: 23
Issue: 3
Pages: 456S
Publication
First Author: Gibb S
Year: 1981
Journal: Genet Res
Title: Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse.
Volume: 37
Issue: 1
Pages: 95-103
Publication
First Author: Cho SM
Year: 2019
Journal: J Neurochem
Title: Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders.
Volume: 148
Issue: 5
Pages: 625-638
Publication
First Author: Vitner EB
Year: 2010
Journal: Hum Mol Genet
Title: Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.
Volume: 19
Issue: 18
Pages: 3583-90
Publication
First Author: Plati T
Year: 2009
Journal: Eur J Immunol
Title: Development and maturation of invariant NKT cells in the presence of lysosomal engulfment.
Volume: 39
Issue: 10
Pages: 2748-54
Publication
First Author: Cawley NX
Year: 2020
Journal: PLoS One
Title: Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.
Volume: 15
Issue: 1
Pages: e0227829
Publication
First Author: Boland B
Year: 2010
Journal: J Biol Chem
Title: Macroautophagy is not directly involved in the metabolism of amyloid precursor protein.
Volume: 285
Issue: 48
Pages: 37415-26
Publication
First Author: Wu YP
Year: 2008
Journal: Hum Mol Genet
Title: Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease.
Volume: 17
Issue: 15
Pages: 2257-64
Publication
First Author: Zhou D
Year: 2004
Journal: Science
Title: Lysosomal glycosphingolipid recognition by NKT cells.
Volume: 306
Issue: 5702
Pages: 1786-9
Publication
First Author: Vitner EB
Year: 2014
Journal: Nat Med
Title: RIPK3 as a potential therapeutic target for Gaucher's disease.
Volume: 20
Issue: 2
Pages: 204-8
Publication
First Author: Liao MJ
Year: 1998
Journal: Mol Cell Biol
Title: No requirement for V(D)J recombination in p53-deficient thymic lymphoma.
Volume: 18
Issue: 6
Pages: 3495-501
Publication
First Author: De Santo C
Year: 2008
Journal: J Clin Invest
Title: Invariant NKT cells reduce the immunosuppressive activity of influenza A virus-induced myeloid-derived suppressor cells in mice and humans.
Volume: 118
Issue: 12
Pages: 4036-48
Publication
First Author: Gadola SD
Year: 2006
Journal: J Exp Med
Title: Impaired selection of invariant natural killer T cells in diverse mouse models of glycosphingolipid lysosomal storage diseases.
Volume: 203
Issue: 10
Pages: 2293-303
Publication
First Author: Mallevaey T
Year: 2006
Journal: J Immunol
Title: Activation of invariant NKT cells by the helminth parasite schistosoma mansoni.
Volume: 176
Issue: 4
Pages: 2476-85
Publication
First Author: Andrechek ER
Year: 2008
Journal: Development
Title: Patterns of cell signaling pathway activation that characterize mammary development.
Volume: 135
Issue: 14
Pages: 2403-13
Publication
First Author: Klein ZA
Year: 2017
Journal: Neuron
Title: Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice.
Volume: 95
Issue: 2
Pages: 281-296.e6
Publication
First Author: Justice MJ
Year: 1990
Journal: Genomics
Title: A molecular genetic linkage map of mouse chromosome 13 anchored by the beige (bg) and satin (sa) loci.
Volume: 6
Issue: 2
Pages: 341-51
Publication
First Author: Beckers MC
Year: 1997
Journal: Genomics
Title: High-resolution linkage map of mouse chromosome 13 in the vicinity of the host resistance locus Lgn1.
Volume: 39
Issue: 3
Pages: 254-63
Publication
First Author: Sandhoff R
Year: 2002
Journal: J Biol Chem
Title: Kidney sulfatides in mouse models of inherited glycosphingolipid disorders: determination by nano-electrospray ionization tandem mass spectrometry.
Volume: 277
Issue: 23
Pages: 20386-98
Publication
First Author: Boonen M
Year: 2009
Journal: Mol Biol Cell
Title: Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.
Volume: 20
Issue: 20
Pages: 4381-9
Publication
First Author: Lankar D
Year: 2002
Journal: J Exp Med
Title: Dynamics of major histocompatibility complex class II compartments during B cell receptor-mediated cell activation.
Volume: 195
Issue: 4
Pages: 461-72
Publication
First Author: Wada R
Year: 2000
Journal: Proc Natl Acad Sci U S A
Title: Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation.
Volume: 97
Issue: 20
Pages: 10954-9
Publication
First Author: Danyukova T
Year: 2018
Journal: Hum Mol Genet
Title: Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.
Volume: 27
Issue: 10
Pages: 1711-1722
Publication
First Author: Seymour AB
Year: 1996
Journal: Genome Res
Title: An integrated genetic map of the pearl locus of mouse chromosome 13.
Volume: 6
Issue: 6
Pages: 538-44
Publication
First Author: Lock LF
Year: 1992
Journal: Genomics
Title: A single cyclin A gene and multiple cyclin B1-related sequences are dispersed in the mouse genome.
Volume: 13
Issue: 2
Pages: 415-24
Publication
First Author: Ngamukote S
Year: 2007
Journal: J Neurochem
Title: Developmental changes of glycosphingolipids and expression of glycogenes in mouse brains.
Volume: 103
Issue: 6
Pages: 2327-41
Publication
First Author: Rosin JM
Year: 2021
Journal: Dev Cell
Title: A subpopulation of embryonic microglia respond to maternal stress and influence nearby neural progenitors.
Volume: 56
Issue: 9
Pages: 1326-1345.e6
Publication  
First Author: Potter PK
Year: 2016
Journal: Nat Commun
Title: Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.
Volume: 7
Pages: 12444
Publication
First Author: Guo Y
Year: 2009
Journal: PLoS One
Title: Relationships between hematopoiesis and hepatogenesis in the midtrimester fetal liver characterized by dynamic transcriptomic and proteomic profiles.
Volume: 4
Issue: 10
Pages: e7641
Publication  
First Author: Hughes DS
Year: 2009
Journal: BMC Dev Biol
Title: Extensive molecular differences between anterior- and posterior-half-sclerotomes underlie somite polarity and spinal nerve segmentation.
Volume: 9
Pages: 30
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: Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom
Year: 2023
Title: Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication        
First Author: GOA curators, MGI curators
Year: 2001
Title: Gene Ontology annotation based on Enzyme Commission mapping
Publication
First Author: Hansen J
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.
Volume: 100
Issue: 17
Pages: 9918-22
Publication
First Author: Koscielny G
Year: 2014
Journal: Nucleic Acids Res
Title: The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.
Volume: 42
Issue: Database issue
Pages: D802-9
Publication
First Author: Visel A
Year: 2004
Journal: Nucleic Acids Res
Title: GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
Volume: 32
Issue: Database issue
Pages: D552-6
Publication  
First Author: Bedogni F
Year: 2021
Journal: Front Mol Neurosci
Title: Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.
Volume: 14
Pages: 686034
Publication      
First Author: International Knockout Mouse Consortium
Year: 2014
Journal: Database Download
Title: MGI download of modified allele data from IKMC and creation of new knockout alleles
Publication      
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
Publication      
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
Publication
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
Publication      
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)
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
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: Adams DJ
Year: 2024
Journal: Nature
Title: Genetic determinants of micronucleus formation in vivo.
Volume: 627
Issue: 8002
Pages: 130-136
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: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
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: 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
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: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication
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
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
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).
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees