The PMP22 gene and its related diseases. - Wikidata - wikimedia - TriplyDB

The PMP22 gene and its related diseases.

The PMP22 gene and its related diseases.

http://www.wikidata.org/entity/Q34316615

about

Small nerve fiber involvement in CMT1A.Molecular regulators of nerve conduction - Lessons from inherited neuropathies and rodent genetic models Predictors of Neurocognitive Syndromes in Combat Veterans.Poly(ADP-ribosylation) is present in murine sciatic nerve fibers and is altered in a Charcot-Marie-Tooth-1E neurodegenerative model.The homology model of PMP22 suggests mutations resulting in peripheral neuropathy disrupt transmembrane helix packing.Abnormal junctions and permeability of myelin in PMP22-deficient nerves.Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts.Inducible HSP70 is critical in preventing the aggregation and enhancing the processing of PMP22.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Topologically Diverse Human Membrane Proteins Partition to Liquid-Disordered Domains in Phase-Separated Lipid Vesicles.Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures Long-term analyses of innervation and neuromuscular integrity in the Trembler-J mouse model of Charcot-Marie-Tooth disease Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.The myelin membrane-associated enzyme 2',3'-cyclic nucleotide 3'-phosphodiesterase: on a highway to structure and function Genetic factors for nerve susceptibility to injuries - lessons from PMP22 deficiency The safety dance: biophysics of membrane protein folding and misfolding in a cellular context Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.Charcot-Marie-Tooth 1A: A narrative review with clinical and anatomical perspectives.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.Unravelling crucial biomechanical resilience of myelinated peripheral nerve fibres provided by the Schwann cell basal lamina and PMP22.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.Reversible folding of human peripheral myelin protein 22, a tetraspan membrane protein.Peripheral myelin protein 22 alters membrane architecture.Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22.A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil AhR-deficiency as a cause of demyelinating disease and inflammation.Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies.miR-200bc/429 Inhibits Osteosarcoma Cell Proliferation and Invasion by Targeting PMP22.The diadenosine homodinucleotide P18 improves in vitro myelination in experimental Charcot-Marie-Tooth type 1A.An observational study of asymmetry in CMT1A.Transcriptomic analyses of genes and tissues in inherited sensory neuropathies.Rer1 and calnexin regulate endoplasmic reticulum retention of a peripheral myelin protein 22 mutant that causes type 1A Charcot-Marie-Tooth disease.Is carpal tunnel decompression warranted for HNPP?Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy.Conformational changes associated with L16P and T118M mutations in the membrane-embedded PMP22 protein, consequential in CMT-1A.

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P2860

The PMP22 gene and its related diseases.

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2012 nî lūn-bûn

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2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

The PMP22 gene and its related diseases.

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The PMP22 gene and its related diseases.

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The PMP22 gene and its related diseases.

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type

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The PMP22 gene and its related diseases.

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The PMP22 gene and its related diseases.

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The PMP22 gene and its related diseases.

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The PMP22 gene and its related diseases.

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The PMP22 gene and its related diseases.

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The PMP22 gene and its related diseases.

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Molecular Neurobiology

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The PMP22 gene and its related diseases.

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P2093

Brett Parker

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Chandramohan Natarajan

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Colin Martyn

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Jiasong Guo

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Jun Li

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P2860

Rapid Conduction and the Evolution of Giant Axons and Myelinated Fibers

Rafts in adult peripheral nerve myelin contain major structural myelin proteins and myelin and lymphocyte protein (MAL) and CD59 as specific markers

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

The zinc containing pro-apoptotic protein siva interacts with the peroxisomal membrane protein pmp22

PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family

Gpr126 is essential for peripheral nerve development and myelination in mammals

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

Analyses of the differentiation potential of satellite cells from myoD-/-, mdx, and PMP22 C22 mice.

Charcot-Marie-Tooth Neuropathy Type 1

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s12035-012-8370-x

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2

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47

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2012-12-07T00:00:00Z

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23224996

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