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Search results 8001 to 8100 out of 8780 for Shh

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Type Details Score
HT Experiment
Series Id: GSE60415
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: ArrayExpress
Publication
First Author: Evans TM
Year: 2003
Journal: Traffic
Title: Rab23, a negative regulator of hedgehog signaling, localizes to the plasma membrane and the endocytic pathway.
Volume: 4
Issue: 12
Pages: 869-84
Publication
First Author: Marcos I
Year: 2003
Journal: Int J Mol Med
Title: Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases.
Volume: 12
Issue: 6
Pages: 983-7
Protein Domain
Type: Family
Description: Rab23 is a member of the Rab family of small GTPases. In mouse, Rab23 has been shown to function as a negative regulator in the sonic hedgehog (Shh) signaling pathway. Rab23 mediates the activity of Gli2 and Gli3, transcription factors that regulate Shh signaling in the spinal cord, primarily by preventing Gli2 activation in the absence of Shh ligand []. Rab23 also regulates a step in the cytoplasmic signal transduction pathway that mediates the effect of Smoothened (one of two integral membrane proteins that are essential components of the Shh signaling pathway in vertebrates) [, ].In humans, Rab23 is expressed in the retina []. Mice contain an isoform that shares 93% sequence identity with the human Rab23 and an alternative splicing isoform that is specific to the brain. This isoform causes the murine open brain phenotype, indicating it may have a role in the development of the central nervous system [, ]. GTPase activating proteins (GAPs) interact with GTP-bound Rab and accelerate the hydrolysis of GTP to GDP. Guanine nucleotide exchange factors (GEFs) interact with GDP-bound Rabs to promote the formation of the GTP-bound state. Rabs are further regulated by guanine nucleotide dissociation inhibitors (GDIs), which facilitate Rab recycling by masking C-terminal lipid binding and promoting cytosolic localization. Most Rab GTPases contain a lipid modification site at the C terminus, with sequence motifs CC, CXC, or CCX. Lipid binding is essential for membrane attachment, a key feature of most Rab proteins [].
GXD Expression
Probe: MGI:5795620
Assay Type: RNA in situ
Annotation Date: 2016-09-26
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1640617
Pattern: Regionally restricted
Stage: TS17
Assay Id: MGI:5795655
Age: embryonic day 10.5
Image: 3A
Note: Expression was strongest in the anterior region of the limb bud and expanding distally and down the posterior regions. Expression did not completely reach the posterior limb boundary. There was no staining in the zone of polarizing activity (ZPA) compared with Shh staining. There was staining in the progress zone by comparison to Fgf10 staining.
Specimen Label: 3A
Detected: true
Specimen Num: 3
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Publication
First Author: McCarthy N
Year: 2011
Journal: Nat Rev Cancer
Title: Medulloblastoma: origins.
Volume: 11
Issue: 2
Pages: 79
HT Experiment  
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: GEO
Protein Domain
Type: Family
Description: Sufu, encoding the human ortholog of Drosophila suppressor of fused, appears to have a conserved role in the repression of Hedgehog signalling []. It is a repressor of the Gli and Ci transcription factors of the Hedgehog signalling cascade [], and functions by binding these proteins and preventing their translocation to the nucleus. Sufu has been found to be a tumour-suppressor gene that predisposes individuals to medulloblastoma by modulating the SHH signalling pathway []. Homologues of Sufu have been found in bacteria, though their function is not currently known.This entry is specific for the eukaryotic Sufu proteins and does not include any homolgous bacterial sequences.
Protein Domain
Type: Family
Description: Sufu, encoding the human ortholog of Drosophila suppressor of fused, appears to have a conserved role in the repression of Hedgehog signalling []. It is a repressor of the Gli and Ci transcription factors of the Hedgehog signalling cascade [], and functions by binding these proteins and preventing their translocation to the nucleus. Sufu has been found to be a tumour-suppressor gene that predisposes individuals to medulloblastoma by modulating the SHH signalling pathway []. Homologues of Sufu have been found in bacteria, though their function is not currently known.This entry represents the eukaryotic suppressor of fused proteins and their bacterial homologues.
Protein Domain
Type: Family
Description: Sufu, encoding the human ortholog of Drosophila suppressor of fused, appears to have a conserved role in the repression of Hedgehog signalling []. It is a repressor of the Gli and Ci transcription factors of the Hedgehog signalling cascade [], and functions by binding these proteins and preventing their translocation to the nucleus. Sufu has been found to be a tumour-suppressor gene that predisposes individuals to medulloblastoma by modulating the SHH signalling pathway []. Homologues of Sufu have been found in bacteria, though their function is not currently known.This entry represents a set of bacterial Sufu homologues which are predicted to function as transcriptional regulators.
HT Experiment
Series Id: GSE60932
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
HT Experiment  
Experiment Type: transcription profiling by array
Study Type: Baseline
Source: GEO
Strain
Attribute String: spontaneous mutation, mutant strain, congenic
Publication
First Author: Yuasa S
Year: 1993
Journal: Anat Embryol (Berl)
Title: Obstructed migration of Purkinje cells in the developing cerebellum of the reeler mutant mouse.
Volume: 188
Issue: 4
Pages: 317-29
Publication
First Author: Takaoka Y
Year: 2005
Journal: Brain Res Dev Brain Res
Title: Expression of reelin in the dorsal cochlear nucleus of the mouse.
Volume: 159
Issue: 2
Pages: 127-34
Strain
Attribute String: F1 hybrid, mutant stock
Allele  
Name: sonic hedgehog; short digits
Allele Type: Radiation induced
Strain
Attribute String: mutant strain, radiation induced mutation, congenic
Publication
First Author: Chautan M
Year: 1999
Journal: Curr Biol
Title: Interdigital cell death can occur through a necrotic and caspase-independent pathway.
Volume: 9
Issue: 17
Pages: 967-70
Allele
Name: regulatory region 29; preaxial polydactyly
Allele Type: Chemically induced (ENU)
Attribute String: Modified regulatory region
Strain
Attribute String: congenic, mutant strain, transgenic
Strain
Attribute String: mutant strain, congenic, transgenic
Strain
Attribute String: mutant strain, transgenic, congenic
Allele
Name: gene trap ROSA 26, Philippe Soriano; targeted mutation 1, Roger H Reeves
Allele Type: Targeted
Attribute String: Inducible, Inserted expressed sequence, Reporter
Strain
Attribute String: congenic, mutant strain, targeted mutation
Allele
Name: regulatory region 29; endonuclease-mediated mutation 6, Axel Visel
Allele Type: Endonuclease-mediated
Attribute String: Modified regulatory region, Null/knockout
Allele
Name: regulatory region 29; endonuclease-mediated mutation 7, Axel Visel
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence, Modified regulatory region
Allele
Name: regulatory region 29; endonuclease-mediated mutation 2, Guillaume Andrey
Allele Type: Endonuclease-mediated
Attribute String: Modified regulatory region
Genotype
Symbol: Fkbp8/Fkbp8 Shh/Shh
Background: involves: C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh<+>
Background: involves: 101 * C3H * C57BL * SEC
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh<+>
Background: B10Rl.Cg-Shh
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh
Background: involves: 101 * C3H * C57BL * SEC
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh
Background: B10Rl.Cg-Shh
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Tg(Shh)#Dje/?
Background: involves: CD-1
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Tg(Shh)#Dje/?
Background: involves: Swiss Webster
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Gli3/Gli3<+> Shh/Shh
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Tctn1/Tctn1 Shh/Shh
Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Six3/Six3<+> Shh/Shh<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh Tg(Prrx1-Sox9,-lacZ)1Haak/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ift122/Ift122 Shh/Shh
Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh
Background: Not Specified
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh Tmem107/Tmem107
Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Tg(Shh-cre/ERT2)#aYjg/Tg(Shh-cre/ERT2)#aYjg
Background: involves: FVB/N
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh<+> Vps25/Vps25
Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Rr45/Rr45<+> Shh/Shh<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/JNCrlj
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Rr115/Rr115<+> Shh/Shh<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Gas1/Gas1 Shh/Shh<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Gas1/Gas1 Shh/Shh
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Dbf/Dbf<+> Shh/Shh
Background: involves: 101/H * 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Rab23/Rab23 Shh/Shh
Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh
Background: involves: 101 * C3H
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Sox9/Sox9 Shh/Shh<+>
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh Tctn1/Tctn1<+>
Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Gli3/Gli3 Shh/Shh<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Gli3/Gli3 Shh/Shh
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Irx3/Irx3 Irx5/Irx5 Shh/Shh<+>
Background: involves: 129S1/Sv * 129X1/SvJ * CD-1
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Dlx2/Dlx2<+> Shh/Shh
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh Six1/Six1<+>
Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: En1/En1<+> Shh/Shh
Background: either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * Swiss Webster)
Zygosity: cx
Has Mutant Allele: true
Publication
First Author: Rubin JB
Year: 2002
Journal: Cancer Cell
Title: Medulloblastoma: a problem of developmental biology.
Volume: 2
Issue: 1
Pages: 7-8
Publication
First Author: Taylor MD
Year: 2002
Journal: Nat Genet
Title: Mutations in SUFU predispose to medulloblastoma.
Volume: 31
Issue: 3
Pages: 306-10
HT Experiment  
Experiment Type: RNA-Seq
Study Type: Baseline
Source: GEO
Protein
Organism: Mus musculus/domesticus
Length: 297  
Fragment?: false
Protein Domain
Type: Homologous_superfamily
Description: Sufu, encoding the human ortholog of Drosophila suppressor of fused, appears to have a conserved role in the repression of Hedgehog signalling []. It is a repressor of the Gli and Ci transcription factors of the Hedgehog signalling cascade [], and functions by binding these proteins and preventing their translocation to the nucleus. Sufu has been found to be a tumour-suppressor gene that predisposes individuals to medulloblastoma by modulating the SHH signalling pathway []. Homologues of Sufu have been found in bacteria, though their function is not currently known.Sufu contains at least two distinct domains: a highly conserved carboxy-terminal region required for binding to the amino-terminal ends of the Gli proteins and a unique amino-terminal domain that binds the carboxy-terminal tail of Gli1 []. This entry represents the N-terminal domain of Sufu. Its structure has an unusual fold composed of bifurcated β-sheet with left-handed β-α-β unit.
HT Experiment  
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: GEO
HT Experiment  
Experiment Type: transcription profiling by array
Study Type: Baseline
Source: GEO
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
HT Experiment  
Experiment Type: RNA-Seq
Study Type: Baseline
Source: GEO
HT Experiment
Series Id: GSE14470
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: ArrayExpress
Strain
Attribute String: congenic, mutant strain, spontaneous mutation
Allele  
Name: sasquatch
Allele Type: Transgenic
Strain
Attribute String: chemically induced mutation, coisogenic, mutant strain
Strain
Attribute String: F1 hybrid, chemically induced mutation
Genotype
Symbol: Hm/Hm<+> Del(5D5Mit73-D5Mit351)5Jcs/?
Background: involves: 129S4/SvJae * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh Tg(SFTPC-rtTA)5Jaw/? Tg(tetO-Shh)1Jaw/?
Background: involves: FVB/N
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh
Background: involves: 101 * 129S1/Sv * 129X1/SvJ * C3H * C57BL/10Rl
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh<+> Tg(Shh)#Dje/?
Background: involves: 129S1/Sv * 129X1/SvJ * Swiss Webster
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Hm/Hm<+> Rr29/Rr29<+>
Background: C3Fe.Cg-Hm +/+ Rr29
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Gli2/Gli2 Shh/Shh
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Gli2/Gli2 Shh/Shh
Background: either: (involves: 129) or (involves: 129 * Black Swiss)
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Gli2/Gli2<+> Shh/Shh
Background: either: (involves: 129) or (involves: 129 * Black Swiss)
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Rr29/Rr29<+>
Background: (C57BL/6J-Rr29 x CAST/Ei)F1
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Rr29/Rr29<+>
Background: C57BL/6J-Rr29
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Rr29/Rr29
Background: C57BL/6J-Rr29
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh Nkx2-5/Nkx2-5<+>
Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ
Zygosity: cn
Has Mutant Allele: true
Genotype
Symbol: Rr29/Rr29<+> Shh/Shh<+>
Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Shh/Shh
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: ht
Has Mutant Allele: true
Genotype
Symbol: Gli1/Gli1<+> Shh/Shh
Background: involves: 129 * Black Swiss * Swiss Webster
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ptch1/Ptch1<+> Shh/Shh
Background: involves: 129S1/Sv * 129X1/SvJ
Zygosity: cx
Has Mutant Allele: true
Publication
First Author: De Mori R
Year: 2017
Journal: Am J Hum Genet
Title: Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Volume: 101
Issue: 4
Pages: 552-563
Publication
First Author: Itasaki N
Year: 1996
Journal: Neuron
Title: Reprogramming Hox expression in the vertebrate hindbrain: influence of paraxial mesoderm and rhombomere transposition.
Volume: 16
Issue: 3
Pages: 487-500
Genotype
Symbol: Tg(UAS-Shh)1Rth/? Tg(Wnt1-GAL4)1Rth/?
Background: involves: C57BL/6J * CBA/J
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ccd/Ccd<+> Shh/Shh<+>
Background: involves: 101 * C3H * C57BL * C57BL/10Rl * SEC
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ndst1/Ndst1<+> Shh/Shh<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ndst1/Ndst1 Shh/Shh<+>
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Ptch1/Ptch1<+> Tg(Shh)#Dje/?
Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster
Zygosity: cx
Has Mutant Allele: true