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PRX encodes a protein involved in peripheral nerve myelin upkeep. De plus, nous expédions Periaxin Anticorps (40) et Periaxin Kits (8) et beaucoup plus de produits pour cette protéine.
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The study identified a variant of periaxin in a Chinese family with congenital cataract by exome sequencing.
results offer a possible mechanism to the formation of periaxin complexes, improvement of complex stability, and establishment of a link between the extracellular matrix and the cytoskeleton
we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present
Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis.
a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX mutation, was shown.
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
In this review, periaxin protein is required for the maintenance of peripheral nerve myelin; however, patients with PRX mutations have early-onset autosomal recessive demyelinating Charcot-Marie-Tooth disease or Dejerine-Sottas neuropathy.
novel mutation in vocal cord paralysis
Results indicate a prominent sensory neuropathy resulting from periaxin gene mutations and suggests a role for the carboxyl terminal domain of the periaxin protein.
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onsetCharcot-Marie-Tooth type 4F disease.
A PRX mutation in Japanese patients is presented.
Data show that the mutations in the periaxin (PRX) gene is associated with early-onset demyelinating AR-CMT and severe sensory loss.
Thirty sequence variants have been found in the analysed genes from patients with Charcot-Marie-Tooth disorders: 5 pathogenic mutations in the GDAP1 gene and 2 pathogenic mutations in the PRX gene.
Taken together, these observations reveal that AnkB is required for Prx membrane anchoring and for maintenance of lens fiber cell hexagonal geometry, membrane skeleton organization, and biomechanics.
Cajal band appositions contain a dystroglycan complex that includes periaxin and dystrophin-related protein (Drp)2.
Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers
dual mechanism for periaxin regulation and suggest that the role of Krox-20 is to amplify an earlier Krox-20-independent activation of the periaxin genein schwann cells
Preterminal branching due to segmental demyelination near the neuromuscular synapse in Periaxin KO mice may underlie some characteristics of disabilities, including coordination deficits, present in this mouse model of CMT disease.
This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy.