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Search results 1 to 100 out of 414 for Pmp22

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Type Details Score
Gene
5376 | PMP22
Type: gene
Organism: human
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Gene
744977 | PMP22
Type: gene
Organism: chimpanzee
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Gene
417327 | PMP22
Type: gene
Organism: chicken
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Gene
693527 | PMP22
Type: gene
Organism: macaque, rhesus
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Gene
594946 | pmp22
Type: gene
Organism: frog, western clawed
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Gene
534497 | PMP22
Type: gene
Organism: cattle
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Gene
24660 | Pmp22
Type: gene
Organism: rat
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Gene
479509 | PMP22
Type: gene
Organism: dog, domestic
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Protein Domain
IPR003936 | PMP22
Type: Family
Description: The epithelial membrane proteins (EMP-1, -2 and -3), peripheral myelin protein 22 (PMP22), and lens fibre membrane intrinsic protein (LMIP) comprise a protein family on the basis of sequence and structural similarities []. Each family member is a small hydrophobic membrane glycoprotein, ~160-170 amino acids in length, and shares a common predicted transmembrane (TM) topology of 4 TM domains, with intracellular N- and C-termini [].PMP22, also termed growth-arrest specific protein (GAS3), is a structural component of compact myelin in the peripheral nervous system. Aberrant expression of the PMP22 gene, and mutations in the protein, are associated with a variety of hereditary peripheral motor and sensory neuropathies []. An intra-chromosomal duplication containing the PMP22 gene is found in the majority of patients suffering from the autosomal dominant demyelinating neuropathy Charcot-Marie-Tooth disease 1A (CMT1A) []. In addition, rare point mutations in PMP22 have been found in non-duplication CMT1A patients and in the severe congenital peripheral neuropathy Dejerine-Sottas syndrome [].PMP22 is also implicated in the control of cell proliferation. Its expression levels are up-regulated in cells undergoing growth arrest [], and it has been shown that modulating PMP22 levels in cultured Schwann cells exerts a profound effect on the length of the G1 phase of the cell cycle []. It has also been demonstrated that over-expression of PMP22 in NIH 3T3 fibroblast cells induces apoptosis [].
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Protein Coding Gene
MGI:97631 | Pmp22
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
8275092 | J:42839
First Author: Roa BB
Year: 1993
Journal: Nat Genet
Title: Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Volume: 5
Issue: 3
Pages: 269-73
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Publication
8884260 | J:35525
First Author: Lobsiger CS
Year: 1996
Journal: Genomics
Title: Identification and characterization of a cDNA and the structural gene encoding the mouse epithelial membrane protein-1.
Volume: 36
Issue: 3
Pages: 379-87
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Publication
7499407 | J:29910
First Author: Taylor V
Year: 1995
Journal: J Biol Chem
Title: Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family.
Volume: 270
Issue: 48
Pages: 28824-33
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Publication
7720703 | -
First Author: Zoidl G
Year: 1995
Journal: EMBO J
Title: Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth.
Volume: 14
Issue: 6
Pages: 1122-8
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Publication
7680499 | -
First Author: Suter U
Year: 1993
Journal: Trends Neurosci
Title: Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system.
Volume: 16
Issue: 2
Pages: 50-6
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Publication
7649472 | -
First Author: Fabbretti E
Year: 1995
Journal: Genes Dev
Title: Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.
Volume: 9
Issue: 15
Pages: 1846-56
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Publication
7605070 | -
 
First Author: Suter U
Year: 1995
Journal: Annu Rev Neurosci
Title: Biology and genetics of hereditary motor and sensory neuropathies.
Volume: 18
Pages: 45-75
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Protein
P16646
Organism: Mus musculus/domesticus
Length: 161  
Fragment?: false
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Protein
Q5SXS3
Organism: Mus musculus/domesticus
Length: 160  
Fragment?: false
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Publication
20071523 | J:157710
First Author: Bai Y
Year: 2010
Journal: J Neurosci
Title: Conduction block in PMP22 deficiency.
Volume: 30
Issue: 2
Pages: 600-8
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Publication
8757248 | J:34938
First Author: Magyar JP
Year: 1996
Journal: J Neurosci
Title: Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage.
Volume: 16
Issue: 17
Pages: 5351-60
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Publication
21670407 | J:175716
First Author: Saporta MA
Year: 2011
Journal: Arch Neurol
Title: Neuropathy in a human without the PMP22 gene.
Volume: 68
Issue: 6
Pages: 814-21
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Publication
21411665 | J:274686
First Author: Jones EA
Year: 2011
Journal: J Neurosci
Title: Regulation of the PMP22 gene through an intronic enhancer.
Volume: 31
Issue: 11
Pages: 4242-50
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Publication
10915775 | J:63755
First Author: Isaacs AM
Year: 2000
Journal: Hum Mol Genet
Title: Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy.
Volume: 9
Issue: 12
Pages: 1865-71
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Publication
31713617 | J:285399
First Author: Lee JS
Year: 2020
Journal: Nucleic Acids Res
Title: Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice.
Volume: 48
Issue: 1
Pages: 130-140
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Publication
31061090 | J:277183
First Author: Zhou Y
Year: 2019
Journal: J Neurosci
Title: PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux.
Volume: 39
Issue: 27
Pages: 5404-5418
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Publication
28108290 | J:259163
 
First Author: Lee JS
Year: 2017
Journal: Neurobiol Dis
Title: Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo.
Volume: 100
Pages: 99-107
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Publication
12359155 | J:79382
First Author: Isaacs AM
Year: 2002
Journal: Mol Cell Neurosci
Title: Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy.
Volume: 21
Issue: 1
Pages: 114-25
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Publication
10580849 | J:58582
 
First Author: Robertson AM
Year: 1999
Journal: J Anat
Title: Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice.
Volume: 195 ( Pt 3)
Pages: 331-9
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Publication
15755691 | J:98118
First Author: Giambonini-Brugnoli G
Year: 2005
Journal: Neurobiol Dis
Title: Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation.
Volume: 18
Issue: 3
Pages: 656-68
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Publication
10087306 | J:54054
First Author: van de Wetering RA
Year: 1999
Journal: Mamm Genome
Title: Regulation and expression of the murine PMP22 gene.
Volume: 10
Issue: 4
Pages: 419-22
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Publication
12090404 | J:76795
First Author: Robertson AM
Year: 2002
Journal: J Anat
Title: Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.
Volume: 200
Issue: 4
Pages: 377-90
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Publication
25429154 | J:218183
First Author: Lee S
Year: 2014
Journal: J Neurosci
Title: PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts.
Volume: 34
Issue: 48
Pages: 16140-52
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Publication
10559784 | J:59665
First Author: Carenini S
Year: 1999
Journal: Glia
Title: Localization and functional roles of PMP22 in peripheral nerves of P0-deficient mice.
Volume: 28
Issue: 3
Pages: 256-64
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Publication
8552310 | J:30111
First Author: Garbay B
Year: 1995
Journal: Neurosci Lett
Title: Expression of the exon 1A-containing PMP22 transcript is altered in the trembler mouse.
Volume: 198
Issue: 3
Pages: 157-60
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Publication
11114256 | J:118023
First Author: Colby J
Year: 2000
Journal: Neurobiol Dis
Title: PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells.
Volume: 7
Issue: 6 Pt B
Pages: 561-73
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Publication
32356557 | J:295323
First Author: Pantera H
Year: 2020
Journal: Hum Mol Genet
Title: Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
Volume: 29
Issue: 10
Pages: 1689-1699
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Publication
33921657 | J:337698
 
First Author: Damián JP
Year: 2021
Journal: Biomolecules
Title: Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests.
Volume: 11
Issue: 4
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Publication
10363833 | J:51487
First Author: Sakai Y
Year: 1999
Journal: Neuroscience
Title: Identification of break points in mutated PMP22 gene in a new Trembler (Tr-Ncnp) mouse.
Volume: 88
Issue: 3
Pages: 989-91
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Publication
9416828 | J:45367
First Author: Toyka KV
Year: 1997
Journal: J Neurol Neurosurg Psychiatry
Title: Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene.
Volume: 63
Issue: 6
Pages: 812-3
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Gene
64065 | PERP
Type: gene
Organism: human
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Publication
- | J:201866
     
First Author: Dionne L
Year: 2013
Journal: MGI Direct Data Submission
Title: Trembler 2 Jackson, a spontaneous point mutation in Pmp22
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Publication
31032403 | J:285533
First Author: Hall A
Year: 2019
Journal: Sci Adv
Title: RUNX represses Pmp22 to drive neurofibromagenesis.
Volume: 5
Issue: 4
Pages: eaau8389
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Publication
11331611 | J:69545
First Author: Perea J
Year: 2001
Journal: Hum Mol Genet
Title: Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.
Volume: 10
Issue: 10
Pages: 1007-18
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Publication
10586249 | J:59848
 
First Author: Suter U
Year: 1999
Journal: Ann N Y Acad Sci
Title: Transgenic mouse models of CMT1A and HNPP.
Volume: 883
Pages: 247-53
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Publication
10586240 | J:59852
 
First Author: Snipes GJ
Year: 1999
Journal: Ann N Y Acad Sci
Title: The anatomy and cell biology of peripheral myelin protein-22.
Volume: 883
Pages: 143-51
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Publication
7745607 | J:22869
First Author: Suter U
Year: 1995
Journal: J Neurosci Res
Title: Peripheral myelin protein 22: facts and hypotheses.
Volume: 40
Issue: 2
Pages: 145-51
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Publication
25150498 | J:227754
First Author: Fledrich R
Year: 2014
Journal: Nat Med
Title: Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A.
Volume: 20
Issue: 9
Pages: 1055-61
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Publication
9204931 | J:49822
First Author: Bolin LM
Year: 1997
Journal: J Neurosci
Title: HNMP-1: a novel hematopoietic and neural membrane protein differentially regulated in neural development and injury.
Volume: 17
Issue: 14
Pages: 5493-502
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Publication
17174099 | J:119095
First Author: Fortun J
Year: 2007
Journal: Neurobiol Dis
Title: The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones.
Volume: 25
Issue: 2
Pages: 252-65
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Publication
7581450 | J:29517
First Author: Adlkofer K
Year: 1995
Journal: Nat Genet
Title: Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
Volume: 11
Issue: 3
Pages: 274-80
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Publication
9204477 | J:43341
First Author: Naef R
Year: 1997
Journal: Mol Cell Neurosci
Title: Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies.
Volume: 9
Issue: 1
Pages: 13-25
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Publication
31213528 | J:281070
First Author: Vanoye CG
Year: 2019
Journal: J Biol Chem
Title: Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.
Volume: 294
Issue: 32
Pages: 12054-12065
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Publication
25014022 | J:215632
 
First Author: Nicks J
Year: 2014
Journal: Neurobiol Dis
Title: Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice.
Volume: 70
Pages: 224-36
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Publication
9151736 | J:40430
First Author: Notterpek L
Year: 1997
Journal: J Neurosci
Title: Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy.
Volume: 17
Issue: 11
Pages: 4190-200
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Publication
15748170 | J:97015
First Author: Fortun J
Year: 2005
Journal: J Neurochem
Title: Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model.
Volume: 92
Issue: 6
Pages: 1531-41
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Publication
17701891 | J:134811
First Author: Khajavi M
Year: 2007
Journal: Am J Hum Genet
Title: Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
Volume: 81
Issue: 3
Pages: 438-53
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Publication
9147228 | J:39953
 
First Author: Robertson AM
Year: 1997
Journal: J Anat
Title: Abnormal Schwann cell/axon interactions in the Trembler-J mouse.
Volume: 190 ( Pt 3)
Pages: 423-32
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Publication
10430839 | J:102221
 
First Author: Sancho S
Year: 1999
Journal: Brain
Title: Distal axonopathy in peripheral nerves of PMP22-mutant mice.
Volume: 122 ( Pt 8)
Pages: 1563-77
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Publication
19493167 | J:152820
First Author: Nattkämper H
Year: 2009
Journal: J Neurochem
Title: Varying survival of motoneurons and activation of distinct molecular mechanism in response to altered peripheral myelin protein 22 gene dosage.
Volume: 110
Issue: 3
Pages: 935-46
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Publication
9335255 | J:43246
First Author: Adlkofer K
Year: 1997
Journal: J Neurosci Res
Title: Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele.
Volume: 49
Issue: 6
Pages: 671-80
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Publication
11673320 | J:102207
First Author: Sancho S
Year: 2001
Journal: Brain
Title: Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A.
Volume: 124
Issue: Pt 11
Pages: 2177-87
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Publication
9169527 | J:40946
First Author: Adlkofer K
Year: 1997
Journal: J Neurosci
Title: Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.
Volume: 17
Issue: 12
Pages: 4662-71
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Publication
10959245 | J:50833
First Author: Rautenstrauss B
Year: 1998
Journal: J Peripher Nerv Syst
Title: Expression pattern of the peripheral myelin protein 22kDa (PMP22) in neural and non-neural tissue types of adult wildtype and Trembler mice--a comparative study.
Volume: 3
Issue: 2
Pages: 117-24
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Publication
11814678 | J:74470
First Author: Robertson A
Year: 2002
Journal: Gene
Title: Effects of mouse strain, position of integration and tetracycline analogue on the tetracycline conditional system in transgenic mice.
Volume: 282
Issue: 1-2
Pages: 65-74
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Publication
11752407 | J:73701
First Author: Tobler AR
Year: 2002
Journal: Proc Natl Acad Sci U S A
Title: Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22.
Volume: 99
Issue: 1
Pages: 483-8
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Publication
7515304 | J:18212
First Author: Suter U
Year: 1994
Journal: Hum Mutat
Title: Genetic basis of inherited peripheral neuropathies.
Volume: 3
Issue: 2
Pages: 95-102
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Publication
9425015 | J:45615
First Author: D'Urso D
Year: 1998
Journal: J Neurosci
Title: Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.
Volume: 18
Issue: 2
Pages: 731-40
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Publication
10066256 | J:53804
First Author: Tobler AR
Year: 1999
Journal: J Neurosci
Title: Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction.
Volume: 19
Issue: 6
Pages: 2027-36
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Publication
10521561 | J:57625
First Author: Wulf P
Year: 1999
Journal: Brain Res Dev Brain Res
Title: Embryonic expression of epithelial membrane protein 1 in early neurons.
Volume: 116
Issue: 2
Pages: 169-80
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Publication
12056842 | J:77667
First Author: Maier M
Year: 2002
Journal: Mol Cell Neurosci
Title: Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves.
Volume: 20
Issue: 1
Pages: 93-109
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Publication
8847735 | J:30616
First Author: Baechner D
Year: 1995
Journal: J Neurosci Res
Title: Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development.
Volume: 42
Issue: 6
Pages: 733-41
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Publication
10586256 | J:59844
 
First Author: Zielasek J
Year: 1999
Journal: Ann N Y Acad Sci
Title: Nerve conduction abnormalities and neuromyotonia in genetically engineered mouse models of human hereditary neuropathies.
Volume: 883
Pages: 310-20
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Publication
35327648 | J:334671
 
First Author: Di Tomaso MV
Year: 2022
Journal: Biomolecules
Title: Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice.
Volume: 12
Issue: 3
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Publication
20731761 | J:166463
First Author: Khazaei MR
Year: 2010
Journal: J Neurochem
Title: Bex1 is involved in the regeneration of axons after injury.
Volume: 115
Issue: 4
Pages: 910-20
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Publication
14627652 | J:97418
First Author: Fortun J
Year: 2003
Journal: J Neurosci
Title: Emerging role for autophagy in the removal of aggresomes in Schwann cells.
Volume: 23
Issue: 33
Pages: 10672-80
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Publication
29315582 | J:261524
First Author: Poitelon Y
Year: 2018
Journal: J Neurochem
Title: A dual role for Integrin α6β4 in modulating hereditary neuropathy with liability to pressure palsies.
Volume: 145
Issue: 3
Pages: 245-257
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Publication
9418989 | J:44968
 
First Author: Martini R
Year: 1997
Journal: J Anat
Title: Animal models for inherited peripheral neuropathies.
Volume: 191 ( Pt 3)
Pages: 321-36
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Publication
15312649 | J:96530
First Author: Atanasoski S
Year: 2004
Journal: Neuron
Title: The protooncogene Ski controls Schwann cell proliferation and myelination.
Volume: 43
Issue: 4
Pages: 499-511
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Publication
16436605 | J:104989
First Author: Amici SA
Year: 2006
Journal: J Neurosci
Title: Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina.
Volume: 26
Issue: 4
Pages: 1179-89
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Publication
27288457 | J:237140
First Author: Lopez-Anido C
Year: 2016
Journal: Hum Mol Genet
Title: Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.
Volume: 25
Issue: 14
Pages: 3055-3069
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Publication
30931926 | J:273263
First Author: Fledrich R
Year: 2019
Journal: Nat Commun
Title: NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies.
Volume: 10
Issue: 1
Pages: 1467
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Publication
27583434 | J:235660
First Author: Hu B
Year: 2016
Journal: PLoS Genet
Title: Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP.
Volume: 12
Issue: 9
Pages: e1006290
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Protein Coding Gene
MGP_CAROLIEiJ_G0016504 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0018468 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0018437 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0018406 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0018408 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0018221 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_97631 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0018860 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0017777 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0018195 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0018304 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0018294 | -
Type: protein_coding_gene
Organism: mouse, laboratory
•
•
•
•
•
Protein Coding Gene
MGP_LPJ_G0018376 | -
Type: protein_coding_gene
Organism: mouse, laboratory
•
•
•
•
•
Protein Coding Gene
MGP_NODShiLtJ_G0018318 | -
Type: protein_coding_gene
Organism: mouse, laboratory
•
•
•
•
•
Protein Coding Gene
MGP_NZOHlLtJ_G0018901 | -
Type: protein_coding_gene
Organism: mouse, laboratory
•
•
•
•
•
Protein Coding Gene
MGP_PWKPhJ_G0017551 | -
Type: protein_coding_gene
Organism: mouse, laboratory
•
•
•
•
•
Protein Coding Gene
MGP_WSBEiJ_G0017830 | -
Type: protein_coding_gene
Organism: mouse, laboratory
•
•
•
•
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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