Recombinant Human N-chimaerin (CHN1)

1. CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. PMID: 29031989
2. CHN1 and TNFAIP3 are candidate biomarkers for esophageal squamous cell carcinomas PMID: 27072986
3. These findings reveal a role for ephrin bidirectional signaling upstream of mutant alpha2-chimaerin in Duane retraction syndrome, which may contribute to the selective vulnerability of abducens motor neurons in this disorder PMID: 28346224
4. this study shows that serum chemerin is an independent risk factor of prognosis of non-small cell lung cancer patients PMID: 28160556
5. reduced alpha1-chimaerin expression in the brain of Alzheimer's disease cases, suggesting a role in the upregulation of Rac1 activity during the disease process. PMID: 25676811
6. The patients most similar belong to families with a small or absent cranial nerve VI and septo-optic hypoplasia who carry CHN1 mutations PMID: 25331612
7. Analysis of the current pedigree expands the phenotypic spectrum of hyperactivating CHN1 mutations to include vertical strabismus and supraduction deficits in the absence of Duane retraction syndrome. PMID: 21715346
8. Members of families segregating Duane retraction syndrome (DRS) as an autosomal dominant trait should be screened for mutations in the CHN1 gene, enhancing genetic counseling and permitting earlier diagnosis. PMID: 21555619
9. We found no evidence for a causative involvement of CHN1 mutations in congenital ocular motor anomalies different from autosomal dominant Duane's retraction syndrome PMID: 20535495
10. study concludes that CHN1 mutations are not a major cause of Duane's retraction syndrome among individuals with sporadic disease PMID: 20034095
11. These two pedigrees double the published pedigrees known to map to the DURS2 locus and can thus contribute toward the search for the DURS2 gene PMID: 17197532
12. DRS (Duane retraction syndrome) linked to the DURS2 locus is associated with bilateral abnormalities of many orbital motor nerves, and structural abnormalities of all EOMs except those innervated by the inferior division of CN3. PMID: 17197533
13. Identify chimaerins as candidates for the downmodulation of Rac1 in T-lymphocytes and, in addition, uncover a novel regulatory mechanism that mediates their activation in T-cells. PMID: 18249095
14. studying families with a variant form of Duane's retraction syndrome (DURS2-DRS), causative heterozygous missense mutations in CHN1 were identified; these are gain-of-function mutations that increase alpha2-chimaerin RacGAP activity PMID: 18653847
15. analysis of an autoinhibitory mechanism that restricts C1 domain-mediated activation of the Rac-GAP alpha2-chimaerin PMID: 18826946
16. Considerable intrafamilial clinical variability was observed in this Duane syndrome pedigree that carried a alpha2-chimaerin mutation PMID: 19541263

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HGNC: 1943

OMIM: 118423

KEGG: hsa:1123

STRING: 9606.ENSP00000386741

UniGene: Hs.380138