Phospho-LMNA (S22) Antibody

1. Lamin A-C interaction with Nestin and its role in the tumor senescence.Nestin stabilizes lamin A-C to protect tumor cells from senescence. PMID: 30190500
2. Among the 120 dilated cardiomyopathy patients 13 (10.8%) had LMNA variants. A novel recurrent LMNA E115M variant was the most frequent in familial DCM. PMID: 29386531
3. lamin A/C interacts with Notch signaling, thereby influencing cellular differentiation, and point mutation in LMNA could halt this interaction PMID: 29040816
4. Mutations in LMNA cause autosomal dominant severe heart disease, accounting for 10% of Dilated Cardiomyopathy . PMID: 29175975
5. ZMPSTE24-dependent cleavage of prelamin A and the eight known disease-associated ZMPSTE24 missense mutations, were examined. PMID: 29794150
6. The LMNA-NTRK1 fusion was likely the molecular driver of tumorigenesis and metastasis in this patient, and the observed effectiveness of crizotinib treatment provides clinical validation of this molecular target. PMID: 30134855
7. Three heterozygous missense mutations were identified in unrelated patients - p. W520R (c.1558T > C), p.T528R (small es, Cyrillic.1583capital ES, Cyrillic > G) and p.R190P (c.569G > C). We consider these variants as pathogenic, leading to isolated DCM with conduction defects or syndromic DCM forms with limb-girdle muscular dystrophy and Emery- Dreifuss muscular dystrophy. PMID: 29770364
8. 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
9. The role of 1B and 2B domains in modulating elastic properties of lamin A. PMID: 27301336
10. progerin is upregulated in human dilated cardiomyopathy hearts and strongly correlates with left ventricular remodeling PMID: 29702688
11. Data indicate that patients with truncation mutations in LMNA (lamin A/C) had an earlier occurrence of cardiac conduction disturbance and low left ventricular ejection fraction, than those with missense mutations. PMID: 29237675
12. A novel truncating LMNA mutation associated with Cardiac conduction disorders and dilated cardiomyopathy was discovered in this family characterized by gender differences in clinical severity in LMNA carriers PMID: 29628476
13. We find no evidence for an elevated mutation rate in progerin-expressing cells. We conclude that the cellular defect in HGPS cells does not lie in the repair of DNA damage per se. PMID: 28477268
14. pathogenic gene mutations in LMNA and MYBPC3 alter RNA splicing and may have a role in heart disease PMID: 28679633
15. Patients with the heterozygous LMNA p.T10I mutation have distinct clinical features and significantly worse metabolic complications compared with other patients with atypical progeroid syndrome as well as patients with Hutchinson-Gilford progeria syndrome. PMID: 29267953
16. Results suggest that lamin A/C might constitute a type of epithelial marker that better signifies EMT and MET in prostate cancer tissue, since a decrease in lamin A/C expression in Gleason score (GS) 4 is likely associated with the EMT process, while the re-expression of lamin A/C in GS 5 is likely linked with MET. PMID: 29665450
17. Using cardiomyocytes derived from human induced pluripotent stem cells carrying different LMNA mutations as model for dilated cardiomyopathy, demonstrate that PTC124 induces translational read-through over the premature stop codon and restores production of the full-length protein. PMID: 28754655
18. This study represents a comprehensive report on relative frequency of CMD in the UK population, indicating MDC1A as the most common CMD subtype (37.35%). PMID: 28688748
19. in differentiating myoblasts, nuclear HSPB2 compartments sequester lamin A. PMID: 28854361
20. A mutation in the gene encoding Lamin A/C (LMNAp.R331Q ) led to reduced maximal force development through secondary disease remodelling in patients suffering from dilated cardiomyopathy. PMID: 28436080
21. In embryonic cells upregulation of lamin A disturbs lamin C, which may influence gene expression. PMID: 27534416
22. our data demonstrate the occurrence of lamin A/NF-Y interaction and suggest a possible role of this protein complex in regulation of NF-Y function in cell proliferation. PMID: 27793050
23. Findings provide evidence that lamin A mutants (called progerin) activates the DNA damage response pathway and that dysregulation of this pathway may be responsible for the development of cardiovascular pathology in patients with Hutchinson-Gilford progeria syndrome. PMID: 28423660
24. Type-2 familial partial lipodystrophy (FPLD2) is a rare autosomal dominant lipodystrophic disorder due to mutations in LMNA. PMID: 28408391
25. The metabolic features of women with the Dunnigan variety of familial partial lipodystrophy, caused by several missense mutations of LMNA, are reported. PMID: 28443701
26. UVA-induced progerinlamin A complex formation was largely responsible for suppressing 53BP1-mediated NHEJ DSB repair activity. The present study is the first to demonstrate that UVA-induced progerin upregulation adversely affects 53BP1-mediated NHEJ DSB repair in human keratinocytes via progerinlamin A complex formation. PMID: 28498430
27. Suggest NF-YAs and lamin A expression levels as novel potential biomarkers useful to identify G1 endometrial carcinoma patients with risk of recurrence. PMID: 27974701
28. Finally, we demonstrate Lamins as the major factors in reliable miR-218 and miR-129 functions for breast cancer progression. Our findings uncover a new miRNA-mediated regulatory network for different Lamins and provide a potential therapeutic target for breast cancer. PMID: 29378184
29. Data indicates that D243Gfs*4 LMNA as a mutation causing a severe form of cardiomyopathy with conduction defects, and suggest CX43 downregulation as a possible molecular mechanism leading to the conduction defects observed in mutation carriers. PMID: 29197877
30. two novel RNA isoforms of LMNA produced through alternative splicing PMID: 28857661
31. Lamin A/C is an autoantigen in Han Chinese patients with confirmed Sjogren's syndrome. Lamin A/C shares similar epitopes with U1RNP. PMID: 27835913
32. it was demonstrated that suspension state promoted the reattachment of breast tumor cells by up-regulating lamin A/C via cytoskeleton disruption. These findings highlight the important role of suspension state for tumor cells in tumor metastasis. PMID: 28919351
33. In this report we show that increased self-association propensity of mutant LA modulates the LA-LB1 interaction and precludes the formation of an otherwise uniform laminar network. Our results might highlight the role of homotypic and heterotypic interactions of LA in the pathogenesis of DCM and hence laminopathies in the broader sense. PMID: 28844980
34. Familial partial lipodystrophy type 2 (FPLD2) is caused by an autosomal dominant mutation in the LMNA gene. FPLD2-adipocytes appear to accumulate markers of autophagy and catabolize triglycerides at higher levels than control adipocytes. PMID: 29108996
35. we demonstrate that BAF is necessary to modulate prelamin A effects on chromatin structure PMID: 26701887
36. Dysmorphic nuclei in patients with an LMNA mutation correlate with the age of heart disease presentation. PMID: 29149195
37. These results suggest that the nuclear lamins and progerin have marginal roles in the activation of the antioxidant Nrf2 response to arsenic and cadmium. PMID: 28229933
38. developed a proteomic analysis of plasma samples from a family showing history of dilated cardiomyopathy caused by a LMNA mutation, which may lead to premature death or cardiac transplant PMID: 27457270
39. Exome sequencing of the proband revealed an extremely rare missense heterozygous variant c.1711_1712CG>TC; p.(Arg571Ser) in LMNA which was confirmed by Sanger sequencing in both the patients. Interestingly, the mutation had no effect on mRNA splicing or relative expression of lamin A or C mRNA and protein in the lymphoblasts PMID: 28686329
40. Case Report: pathogenic LMNA mutation gives unifying diagnosis explaining arrhythmogenic right ventricular cardiomyopathy and Charcot-Marie-Tooth type 2B1 phenotypes. PMID: 27405450
41. Standard Sanger sequencing of LMNA exon 11 DNA from blood-derived WBCs and cultured skin fibroblasts sequenced at passages 1, 3 and 8 detected differing progerin-producing mutations in the same nucleotide of the exon 11 intronic splice donor site (see online supplementary figure. PMID: 27920058
42. the CNOT1-LMNA-Hedgehog signaling pathway axis exerts an oncogenic role in osteosarcoma progression, which could be a potential target for gene therapy. PMID: 28188704
43. Pathogenic variants in the LMNA gene responsible for nearly 10%-15%% of Familial Dilated Cardiomyopathy cases. PMID: 27736720
44. low lamin A but not lamin C expression in pleural metastatic cells could represent a major actor in the development of metastasis, associated with epithelial to mesenchymal transition and could account for a pejorative factor correlated with a poor Performance status. PMID: 28806747
45. These results propose a mechanism for progerin-induced genome instability and accelerated replicative senescence in Hutchinson-Gilford progeria syndrome. PMID: 28515154
46. LmnA binds AIMP3 via its extreme C-terminus. Together these findings provide a structural insight for understanding the interaction between AIMP3 and LmnA in AIMP3 degradation. PMID: 28797100
47. The R482W mutation results in a loss of function of differentiation-dependent lamin A binding to the MIR335 locus and epigenetic regulation of adipogenesis. PMID: 28751304
48. Pathogenic variants of the LMNA gene were determined in nine families with familial partial lipodystrophy PMID: 28641778
49. The interaction of progerin with lamin A/C contributes to the development of the senescence phenotype of Hutchinson-Gilford progeria syndrome and aged cells. PMID: 27617860
50. we expressed a LEMD2 transgene alone or in combination with lamin C in these cells and observed no restoration of peripheral heterochromatin in either case. We conclude that in contrary to the B-tether, the A-tether has a more intricate composition and consists of multiple components that presumably vary, at differing degrees of redundancy, between cell types and differentiation stages PMID: 28056360

顯示更多

收起更多

HGNC: 6636

OMIM: 115200

KEGG: hsa:4000

STRING: 9606.ENSP00000357283

UniGene: Hs.594444