Keyword

PMP22

Description: PMP22 is a human protein-coding gene encoding peripheral myelin protein 22, which is important in Schwann cells and peripheral nerve function.

Primary topic: Hereditary Neurological Disorders (67%)

Wikidata ID: wiki/Q18030619

OpenAlex ID: keywords/pmp22

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1991 · James R. Lupski, Roberto Montes de Oca-Luna, et al. · Cell · 1,334

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

1996 · Eva Nelis, Christine Van Broeckhoven · European Journal of Human Genetics · 431

A Transgenic Rat Model of Charcot-Marie-Tooth Disease

1996 · Michael Sereda, Ian Griffiths, et al. · Neuron · 381

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Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

2012 · Sinead M Murphy, Matilde Laura, et al. · Journal of Neurology Neurosurgery & Psychiatry · 378

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1995 · Katrin Adlkofer, Rudolf Martini, et al. · Nature Genetics · 376

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease

2004 · Edith Passage, Jean Chrétien Norreel, et al. · Nature Medicine · 350

Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)

2003 · Michael W Sereda, Gerd Meyer zu Hörste, et al. · Nature Medicine · 310

The PMP22 Gene and Its Related Diseases

2012 · Jun Li, Brett Parker, et al. · Molecular Neurobiology · 281

Emerging Role for Autophagy in the Removal of Aggresomes in Schwann Cells

2003 · Jenny Fortun, William A. Dunn, et al. · Journal of Neuroscience · 261

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Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

1997 · N Birouk · Brain · 256

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

1993 · Benjamin B. Roa, Peter J. Dyck, et al. · Nature Genetics · 256

Identification of Dynamically Regulated MicroRNA and mRNA Networks in Developing Oligodendrocytes

2008 · Pierre Lau, Jonathan D. Verrier, et al. · Journal of Neuroscience · 253

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Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

1999 · Eva Nelis, Neva Haites, et al. · Human Mutation · 230

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Impaired Differentiation of Schwann Cells in Transgenic Mice with IncreasedPMP22Gene Dosage

1996 · Josef P. Magyar, Rudolf Martini, et al. · Journal of Neuroscience · 230

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A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 · Garth A. Nicholson, Linda J. Valentijn, et al. · Nature Genetics · 228

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

2001 · N. Bondurand · Human Molecular Genetics · 216

Charcot-Marie-Tooth: From Molecules to Therapy

2019 · Jonathan Morena, Anirudh Gupta, et al. · International Journal of Molecular Sciences · 206

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2014 · Barbara W van Paassen, Anneke J van der Kooi, et al. · Orphanet Journal of Rare Diseases · 197

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Wnt/β-Catenin Signaling Is an Essential and Direct Driver of Myelin Gene Expression and Myelinogenesis

2011 · Marcel Tawk, Joelle Makoukji, et al. · Journal of Neuroscience · 194

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Isolation of Novel and Known Genes from a Human Fetal Cochlear cDNA Library Using Subtractive Hybridization and Differential Screening

1994 · Nahid G. Robertson, Umang Khetarpal, et al. · Genomics · 188

The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

2014 · Christina DiVincenzo, Christopher D. Elzinga, et al. · Molecular Genetics & Genomic Medicine · 186

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Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice

1998 · C Huxley · Human Molecular Genetics · 182

Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot‐Marie‐Tooth disease)

2006 · Philipp Berger, Axel Niemann, et al. · Glia · 181

The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes

2001 · Ken Inoue, Ken Dewar, et al. · Genome Research · 181

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P0 and PMP22 mark a multipotent neural crest-derived cell type that displays community effects in response to TGF-β family factors

1999 · Lilian Hagedorn, Ueli Suter, et al. · Development · 180

Works count: 1,136

Citation count: 28,000