SYNE1 Antibody

1. The functional integrity of lamin and nesprin-1 is thus required to modulate the FHOD1 activity and the inside-out mechanical coupling that tunes the cell internal stiffness to match that of its soft, physiological-like environment. PMID: 28455503
2. Authors screened 937 BPD samples for genetic variation in SYNE1 exons 14-33, which covers the CPG2 region, using high-resolution melt analysis. Nine patients are compound heterozygotes for variants in SYNE1/CPG2, suggesting that rare coding variants may contribute significantly towards the complex genetic architecture underlying BPD. PMID: 28178086
3. The frequency of CACNA1C rs10848683 in genetic high-risk individuals was double that in controls. For SYNE1 rs214950, higher frequencies were found in the genetic high-risk group than in controls. Polymorphisms in CACNA1C and SYNE1 could confer a greater risk of developing Schizophrenia and Bipolar Disorder in individuals who are already at high risk because of their family history. PMID: 27620326
4. three novel rare variants (R8272Q, S8381C and N8406K) in the C-terminus of the SYNE1 gene (nesprin-1) were identified in seven dilated cardiomyopathy patients by mutation screening. Expression of these mutants caused nuclear morphology defects and reduced lamin A/C and SUN2 staining at the Nuclear envelope. PMID: 28398466
5. We reported a novel mutation in exon 46 on codon 2304 (G2304R) of the SYNE1 gene in a Chinese family with Emery-Dreifuss muscular dystrophy-like features, and 100 healthy individuals did not show such mutation. PMID: 28583108
6. Nonsense mutation in the ultimate exon of full-length SYNE1 causes congenital onset of muscular weakness with distal arthrogryposis. PMID: 27782104
7. The results show that nesprin-1-alpha2 is dynamically controlled and may be involved in some process occurring during early myofibre formation, such as re-positioning of nuclei. PMID: 27350129
8. findings revise the view that SYNE1 ataxia causes mainly a relatively pure cerebellar recessive ataxia and that it is largely limited to Quebec. Instead, complex phenotypes with a wide range of extra-cerebellar neurological and nonneurological dysfunctions are frequent, including in particular motor neuron and brainstem dysfunction. PMID: 27086870
9. This study demonstrate four novel truncating mutations in SYNE1 in pedigrees from British, Sri Lankan and Turkish origin in patient with cerebellar ataxia. PMID: 27178001
10. A full length transcript homologous to rat CPG2 exists within human SYNE1. A full length transcript homologous to rat CPG2 exists within human SYNE1. PMID: 26704904
11. SNP rs79575945 in ESR1 gene is associated with cancers of endometrioid subtype and resulted in the expression of SYNE1. PMID: 26330482
12. Mechanostimulation mediates nuclear changes in oligodendrocyte progenitor cells via the SYNE1 complex. PMID: 26791211
13. our data suggest that SYNE1 and FOXE1 are promising markers for colorectal cancer detection. PMID: 25538088
14. Drosophila melanogaster larval muscles, exhibiting both elastic features contributed by the stretching capacity of MSP300 (nesprin) and rigidity provided by a perinuclear network of microtubules stabilized by Shot (spectraplakin) and EB1. PMID: 26008743
15. ur results show that SNPs rs9371601 and rs3093664 in the SYNE1 and TNF genes respectively, are associated with menstrual migraine. PMID: 25315199
16. A report of a family with a SYNE1 gene mutation that seems to cause an "Emery-Dreifuss muscular dystrophy-like" phenotype. PMID: 25091525
17. a role for Nesprin-1 in the DNA damage response pathway PMID: 24781983
18. FOXE1 and SYNE1 hypermethylation markers demonstrated significantly increased expression in neoplastic tissue. PMID: 24280874
19. These data identify p50(Nesp1) as a multi-functional P-body component and microtubule scaffold necessary for RNA granule dynamics and provides evidence for P-body and stress granule micro-heterogeneity. PMID: 24862572
20. role of CSMD1 and SYNE1 in the etiology of bipolar disorder PMID: 24387768
21. Two novel truncating mutations were found among the French-Canadian participants, and 2 other novel mutations were found in a patient from France and a patient from Brazil. PMID: 23959263
22. The findings of this study add to the evidence that association of SYNE1 mutation influences susceptibility to bipolar and unipolar mood disorders. PMID: 22565781
23. we report 4 novel homozygous SYNE1 mutations in 3 Japanese patients with cerebellar ataxia PMID: 23325900
24. These results indicate that nesprin-1 knockdown releases the nucleus from the tension of F-actin bound to the nucleus, thereby increasing allowance for deformation before stretching, and that F-actin bound to the nucleus through nesprin-1 causes sustainable force transmission to the nucleus. PMID: 22728879
25. analysis of nsprin-1 mutations in human and murine cardiomyopathy PMID: 19944109
26. Nesprin-1 depletion increased the number of focal adhesions and substrate traction while decreasing the speed of cell migration PMID: 20655839
27. a single nucleotide polymorphism downstream of ESR1, a gene called spectrin repeat containing, nuclear envelope 1, was associated with invasive ovarian cancer risk PMID: 20056644
28. Vertebrate Nesprin-1 and nesprin-2 proteins are orthologous to Drosophila melanogaster muscle protein MSP-300 PMID: 12408964
29. The role of Syne-1 in cytokinesis involves an interaction with kinesin II. PMID: 14709720
30. Enaptin is an element of the nuclear membrane and the actin cytoskeleton. PMID: 15093733
31. The Nesprin-1 is essential for the interaction with a C-terminal region in SUN1 protein. PMID: 16079285
32. These findings indicate that GSRP-56 is a small Golgi-localized splice-isoform of the spectrin-repeat-containing Syne1 gene. PMID: 16875688
33. SYNE1 is the first identified gene responsible for a recessively inherited pure cerebellar ataxia. PMID: 17159980
34. This study identified a cluster of French-Canadian families with a new recessive ataxia of relatively pure cerebellar type caused by mutations in SYNE1. PMID: 17503513
35. Loss of Drop1 expression at early stages in carcinomas of the uterus, cervix, kidney, lung, thyroid and pancreas. PMID: 18709643
36. splice site mutation of SYNE-1 gene found in the family is responsible for arthrogryposis multiplex congenita. PMID: 19542096

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HGNC: 17089

OMIM: 608441

KEGG: hsa:23345

STRING: 9606.ENSP00000356224

UniGene: Hs.12967