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Search results 1 to 100 out of 303 for Gne

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0.074s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: zebrafish
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Yonekawa T
Year: 2014
Journal: Brain
Title: Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
Volume: 137
Issue: Pt 10
Pages: 2670-9
Publication
First Author: Sela I
Year: 2013
Journal: Neuromolecular Med
Title: Variable phenotypes of knockin mice carrying the M712T Gne mutation.
Volume: 15
Issue: 1
Pages: 180-91
Publication
First Author: Malicdan MC
Year: 2007
Journal: Hum Mol Genet
Title: A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Volume: 16
Issue: 22
Pages: 2669-82
Publication
First Author: Cho A
Year: 2017
Journal: Hum Mol Genet
Title: Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.
Volume: 26
Issue: 16
Pages: 3081-3093
Publication  
First Author: Ilouz N
Year: 2022
Journal: Front Genome Ed
Title: In vivo and in vitro genome editing to explore GNE functions.
Volume: 4
Pages: 930110
Publication
First Author: Malicdan MC
Year: 2007
Journal: Hum Mol Genet
Title: A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Volume: 16
Issue: 2
Pages: 115-28
Publication
First Author: Milman Krentsis I
Year: 2011
Journal: PLoS One
Title: GNE is involved in the early development of skeletal and cardiac muscle.
Volume: 6
Issue: 6
Pages: e21389
Publication
First Author: Kakani S
Year: 2012
Journal: Am J Pathol
Title: The Gne M712T mouse as a model for human glomerulopathy.
Volume: 180
Issue: 4
Pages: 1431-40
Publication
First Author: Niethamer TK
Year: 2012
Journal: Mol Genet Metab
Title: Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
Volume: 107
Issue: 4
Pages: 748-55
Publication
First Author: Ito M
Year: 2012
Journal: PLoS One
Title: Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice.
Volume: 7
Issue: 1
Pages: e29873
Publication
First Author: Chan YM
Year: 2017
Journal: PLoS One
Title: Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.
Volume: 12
Issue: 3
Pages: e0173261
Publication
First Author: Huang L
Year: 2024
Journal: Blood Adv
Title: Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.
Volume: 8
Issue: 4
Pages: 991-1001
DO Term
Publication
First Author: Malicdan MC
Year: 2008
Journal: Physiol Genomics
Title: Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.
Volume: 35
Issue: 1
Pages: 106-15
Publication
First Author: Schwarzkopf M
Year: 2002
Journal: Proc Natl Acad Sci U S A
Title: Sialylation is essential for early development in mice.
Volume: 99
Issue: 8
Pages: 5267-70
Publication
First Author: Yardeni T
Year: 2013
Journal: Glycoconj J
Title: Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.
Volume: 30
Issue: 6
Pages: 609-18
Publication
First Author: Paccalet T
Year: 2010
Journal: PLoS One
Title: Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.
Volume: 5
Issue: 4
Pages: e10055
Publication
First Author: Hanisch F
Year: 2013
Journal: PLoS One
Title: Sialylation and muscle performance: sialic acid is a marker of muscle ageing.
Volume: 8
Issue: 12
Pages: e80520
Publication
First Author: Benyamini H
Year: 2020
Journal: J Neuromuscul Dis
Title: Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype.
Volume: 7
Issue: 2
Pages: 119-136
Publication
First Author: Delaunay A
Year: 2008
Journal: PLoS One
Title: The ER-bound RING finger protein 5 (RNF5/RMA1) causes degenerative myopathy in transgenic mice and is deregulated in inclusion body myositis.
Volume: 3
Issue: 2
Pages: e1609
Publication
First Author: Kreuzmann D
Year: 2017
Journal: Chembiochem
Title: Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria.
Volume: 18
Issue: 13
Pages: 1188-1193
Publication  
First Author: Peng J
Year: 2023
Journal: Mol Metab
Title: Hepatic sialic acid synthesis modulates glucose homeostasis in both liver and skeletal muscle.
Volume: 78
Pages: 101812
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
Publication
First Author: Horstkorte R
Year: 1999
Journal: Eur J Biochem
Title: Tissue expression and amino acid sequence of murine UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase.
Volume: 260
Issue: 3
Pages: 923-7
Publication
First Author: Horstkorte R
Year: 2000
Journal: FEBS Lett
Title: Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase.
Volume: 470
Issue: 3
Pages: 315-8
Publication
First Author: Galeano B
Year: 2007
Journal: J Clin Invest
Title: Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
Volume: 117
Issue: 6
Pages: 1585-94
GXD Expression      
Probe: MGI:5050695
Assay Type: Western blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:5050724
Age: postnatal
Specimen Label: None
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:5050727
Age: postnatal adult
Specimen Label: He
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:5050727
Age: postnatal adult
Specimen Label: Br
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:5050727
Age: postnatal adult
Specimen Label: Sp
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:5050727
Age: postnatal adult
Specimen Label: Lu
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:5050727
Age: postnatal adult
Specimen Label: Li
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:5050727
Age: postnatal adult
Specimen Label: Mu
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:5050727
Age: postnatal adult
Specimen Label: Ki
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:5050727
Age: postnatal adult
Specimen Label: Te
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603910
Stage: TS10
Assay Id: MGI:5050728
Age: embryonic day 7.0
Specimen Label: E7
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603918
Stage: TS18
Assay Id: MGI:5050728
Age: embryonic day 11.0
Specimen Label: E11
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603923
Stage: TS23
Assay Id: MGI:5050728
Age: embryonic day 15.0
Specimen Label: E15
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603925
Stage: TS25
Assay Id: MGI:5050728
Age: embryonic day 17.0
Specimen Label: E17
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:5050726
Assay Type: Northern blot
Annotation Date: 2011-07-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:5050728
Age: postnatal adult
Specimen Label: Ad
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603910
Stage: TS10
Assay Id: MGI:7424841
Age: embryonic day 7.0
Specimen Label: 7-day embryo
Detected: true
Specimen Num: 9
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603925
Stage: TS25
Assay Id: MGI:7424841
Age: embryonic day 17.0
Specimen Label: 17-day embryo
Detected: true
Specimen Num: 10
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:7424841
Age: postnatal adult
Specimen Label: Testis
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:7424841
Age: postnatal adult
Specimen Label: Skeletal muscle
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:7424841
Age: postnatal adult
Specimen Label: Lung
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:7424841
Age: postnatal adult
Specimen Label: Spleen
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:7424841
Age: postnatal adult
Specimen Label: Heart
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:7424841
Age: postnatal adult
Specimen Label: Kidney
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:7424841
Age: postnatal adult
Specimen Label: Brain
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:7424836
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7424841
Age: postnatal adult
Specimen Label: Liver
Detected: true
Specimen Num: 8
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:7424842
Age: postnatal adult
Specimen Label: Testis
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:7424842
Age: postnatal adult
Specimen Label: Skeletal muscle
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:7424842
Age: postnatal adult
Specimen Label: Lung
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:7424842
Age: postnatal adult
Specimen Label: Spleen
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:7424842
Age: postnatal adult
Specimen Label: Heart
Detected: true
Specimen Num: 5
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:7424842
Age: postnatal adult
Specimen Label: Kidney
Detected: true
Specimen Num: 6
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:7424842
Age: postnatal adult
Specimen Label: Brain
Detected: true
Specimen Num: 7
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7424842
Age: postnatal adult
Specimen Label: Liver
Detected: false
Specimen Num: 8
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603910
Stage: TS10
Assay Id: MGI:7424842
Age: embryonic day 7.0
Specimen Label: 7-day embryo
Detected: true
Specimen Num: 9
GXD Expression      
Probe: MGI:7424837
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603925
Stage: TS25
Assay Id: MGI:7424842
Age: embryonic day 17.0
Specimen Label: 17-day embryo
Detected: true
Specimen Num: 10
GXD Expression      
Probe: MGI:7424838
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737325
Stage: TS25
Assay Id: MGI:7424843
Age: embryonic day 17.0
Specimen Label: E17 +/+
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7424838
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737325
Stage: TS25
Assay Id: MGI:7424843
Age: embryonic day 17.0
Specimen Label: E17 -/-
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7424838
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737327
Stage: TS27
Assay Id: MGI:7424843
Age: postnatal day 2
Specimen Label: P2 +/+
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7424838
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737327
Stage: TS27
Assay Id: MGI:7424843
Age: postnatal day 2
Specimen Label: P2 -/-
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:7424839
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737325
Stage: TS25
Assay Id: MGI:7424851
Age: embryonic day 17.0
Specimen Label: E17 +/+
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7424839
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737325
Stage: TS25
Assay Id: MGI:7424851
Age: embryonic day 17.0
Specimen Label: E17 -/-
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7424839
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737327
Stage: TS27
Assay Id: MGI:7424851
Age: postnatal day 2
Specimen Label: P2 +/+
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7424839
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737327
Stage: TS27
Assay Id: MGI:7424851
Age: postnatal day 2
Specimen Label: P2 -/-
Detected: true
Specimen Num: 4
GXD Expression      
Probe: MGI:7424838
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598825
Stage: TS25
Assay Id: MGI:7424852
Age: embryonic day 17.0
Specimen Label: E17 +/+
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:7424838
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598825
Stage: TS25
Assay Id: MGI:7424852
Age: embryonic day 17.0
Specimen Label: E17 -/-
Detected: true
Specimen Num: 2
GXD Expression      
Probe: MGI:7424838
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598827
Stage: TS27
Assay Id: MGI:7424852
Age: postnatal day 2
Specimen Label: P2 +/+
Detected: true
Specimen Num: 3
GXD Expression      
Probe: MGI:7424838
Assay Type: RT-PCR
Annotation Date: 2023-01-10
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598827
Stage: TS27
Assay Id: MGI:7424852
Age: postnatal day 2
Specimen Label: P2 -/-
Detected: true
Specimen Num: 4