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Gene Information
Gene symbol: CMTX2
Gene name:
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | ADCY10 | 1 hits |
| 2 | AVP | 1 hits |
| 3 | CMT1A | 1 hits |
| 4 | FIG4 | 1 hits |
| 5 | FXN | 1 hits |
| 6 | KIF1B | 1 hits |
| 7 | MPZ | 1 hits |
| 8 | PMP22 | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 11045666 | Chromosomal imbalance of the peripheral myelin protein-22 gene (PMP22) is known to be the most frequent genetic abnormality in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsy (HNPP). |
| 2 | 15896962 | The patients comprised 5 with Charcot-Marie-Tooth disease type 1A (CMT1A), 8 with CMT type 2 (CMT2) and 14 with Diabetes polyneuropathy (Diabetics). |
| 3 | 17670950 | Finally, we calculated the DeltaDeltaGLep for 277 known transmembrane missense mutations associated with Charcot-Marie-Tooth disease, diabetes insipidus, retinitis pigmentosa, cystic fibrosis, and severe myoclonic epilepsy of infancy and showed that the majority of these mutations also are likely to destabilize transmembrane domain membrane insertion, but that only a minority of the mutations would be predicted to be as destabilizing as the A322D mutation. |
| 4 | 19192070 | Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a duplication of PMP22 on chromosome 17 and is the most commonly inherited demyelinating neuropathy. |
| 5 | 21913423 | Charcot Marie Tooth disease (CMT) divided into demyelinating (CMT1) and axonal (CMT2) subtypes is characterized by a slowly progressive wasting of distal muscles. |
| 6 | 22446165 | Recent work reveals that hyperglycemia in diabetes triggers nutrient excess in neurons that, in turn, mediates a phenotypic change in mitochondrial biology through alteration of the AMP-activated protein kinase (AMPK)/peroxisome proliferator-activated receptor γ coactivator-1α (PGC-1α) signaling axis. |
| 7 | 22446165 | The bioenergetic phenotype of mitochondria in diabetic neurons is aberrant due to deleterious alterations in expression and activity of respiratory chain components as a direct consequence of abnormal AMPK/PGC-1α signaling. |
| 8 | 22446165 | The role of mitochondrial dysfunction in the etiology of diabetic neuropathy is compared with other types of neuropathy with a distal dying-back pathology such as Friedreich ataxia, Charcot-Marie-Tooth disease type 2 and human immunodeficiency virus-associated distal-symmetric neuropathy. |
| 9 | 23086422 | The phosphoinositide phosphatases regulate PI3K/Akt signalling, insulin signalling, endocytosis, vesicle trafficking, cell migration, proliferation and apoptosis. |
| 10 | 23086422 | Genetic mutations in the 5-phosphatase INPP5E are causative of the ciliopathy syndromes Joubert and MORM, and mutations in the 5-phosphatase OCRL result in Lowe's syndrome and Dent 2 disease. |
| 11 | 23086422 | Additionally, polymorphisms in the 5-phosphatase SHIP2 confer diabetes susceptibility in specific populations, whereas reduced protein expression of SHIP1 is reported in several human leukaemias. |
| 12 | 23086422 | Mutations in one SAC phosphatase, SAC3/FIG4, results in the degenerative neuropathy, Charcot-Marie-Tooth disease. |