| The study identified a variant of periaxin in a Chinese family with congenital cataract by exome sequencing. | Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.
Yuan L, Yi J, Lin Q, Xu H, Deng X, Xiong W, Xiao J, Jiang C, Yuan X, Chen Y, Deng H. | 03/18/2017 |
| 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 | Intermolecular disulfide bond in the dimerization of S-periaxin mediated by Cys88 and Cys139.
Yang Y, Ren Y, Shi Y., Free PMC Article | 12/17/2016 |
| 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 | The use of whole-exome sequencing to disentangle complex phenotypes.
Williams HJ, Hurst JR, Ocaka L, James C, Pao C, Chanudet E, Lescai F, Stanescu HC, Kleta R, GOSgene, Rosser E, Bacchelli C, Beales P., Free PMC Article | 10/8/2016 |
| Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. | [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].
Renouil M, Stojkovic T, Jacquemont ML, Lauret K, Boué P, Fourmaintraux A, Randrianaivo H, Tallot M, Mignard D, Roelens P, Tabailloux D, Bernard R, Cartault F, Chane-Thien E, Dubourg O, Ferrer X, Sole G, Fournier E, Latour P, Lacour A, Mignard C. | 06/7/2014 |
| a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX mutation, was shown. | Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
Tokunaga S, Hashiguchi A, Yoshimura A, Maeda K, Suzuki T, Haruki H, Nakamura T, Okamoto Y, Takashima H. | 04/13/2013 |
| Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. | Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
Nouioua S, Hamadouche T, Funalot B, Bernard R, Bellatache N, Bouderba R, Grid D, Assami S, Benhassine T, Levy N, Vallat JM, Tazir M. | 01/21/2012 |
| 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. | Four novel cases of periaxin-related neuropathy and review of the literature.
Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, Piccolo G, Fabrizi GM, Cavallaro T, Taroni F, Pareyson D. | 01/1/2011 |
| novel mutation in vocal cord paralysis | Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis.
Benson B, Sulica L, Guss J, Blitzer A. | 02/22/2010 |
| 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. | [Charcot-Marie-Tooth disorders with autosomal recessive inheritance. Search for the molecular diagnostics model].
Kabzińska D, Franaszczyk M, Kochański A. | 01/21/2010 |
| Data show that the mutations in the periaxin (PRX) gene is associated with early-onset demyelinating AR-CMT and severe sensory loss. | Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Auer-Grumbach M, Fischer C, Papić L, John E, Plecko B, Bittner RE, Bernert G, Pieber TR, Miltenberger G, Schwarz R, Windpassinger C, Grill F, Timmerman V, Speicher MR, Janecke AR., Free PMC Article | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. | 03/13/2008 |
| Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease | Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
Kijima K, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S, Tanaka T, Hayasaka K. | 01/21/2010 |
| 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. | Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.
Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I. | 01/21/2010 |
| 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 mutations cause a broad spectrum of demyelinating neuropathies.
Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. | 01/21/2010 |
| A PRX mutation in Japanese patients is presented. | Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.
Otagiri T, Sugai K, Kijima K, Arai H, Sawaishi Y, Shimohata M, Hayasaka K. | 01/21/2010 |