NEB Antibody, FITC conjugated

1. NEB gene should be included in genetic panels for fetal akinesia/arthrogryposis multiplex congenital cases. PMID: 27933661
2. We examined a Chinese strabismus pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB) gene. c.A914G mutation was found in nebulin (NEB) gene. PMID: 28391287
3. Shorter than normal thin filament length contributes to the impaired force generation in patients with thin filament myopathy, but only in those who harbor specific mutations in NEB or ACTA1. PMID: 27074222
4. New NEB mutations were found in 8 of 10 patients with nemaline myopathy. PMID: 27105866
5. recurrent NEB TRI copy number variation was found in 13% of the families with nemaline myopathy and in 10% of the controls. PMID: 26197980
6. Prominent foot-drop was associated with NEB gene mutations in three patients with core-rod myopathy. PMID: 26403434
7. Identified two novel, compound-heterozygous variants in the nebulin gene after a 30 year clinical history, which cause a classical childhood type of nemaline myopathy. PMID: 25740301
8. Since the patients are characterized by generalized muscle weakness together with neurodevelopmental phenotypes, it is suggested that NEB mutations could manifest more diverse phenotypes than those previously described. PMID: 25296583
9. indicates that nebulin tolerates substantial changes in its amino acid sequence, providing an explanation as to why variants in such a large gene result in relatively rare disorders PMID: 25205138
10. Mutations in NEB gene is associated with stress fracture. PMID: 25023003
11. This study demonistrated that Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity. PMID: 24725366
12. We identify the SH3 domains of nebulin and nebulette as novel ligands of proline-rich regions of Xin and XIRP2 PMID: 23985323
13. Data suggest that for some filament-forming desmin mutants, the molecular etiology of desminopathy results from subtle deficiencies in their association with nebulin, a major actin-binding filament protein of striated muscle. PMID: 23615443
14. A nebulin-based nemaline myopathy model is characterized in transgenic mice following deletion of exon 55 in nebulin. PMID: 23715096
15. Multiple isoforms of nebulin expressed in skeletal muscle and brain may have a role as actin filament stabilizer or length regulator in neurons of the human brain PMID: 22941678
16. Ultrasonographic findings suggestive of a myopathy and a carrier state for the NEB exon 55 deletion in one of the parents should trigger a thorough investigation for nemaline. PMID: 22367672
17. distal nemaline myopathy caused by four different compound heterozygous nebulin mutations PMID: 21724397
18. The mechanics as well as the X-ray diffraction patterns of human membrane-permeabilized single muscle fibers expressing nebulin mutations are reported. PMID: 21350120
19. Data revealed markedly reduced nebulin protein levels in muscle from nemaline myopathy patients, whereas levels of other thin filament-based proteins were not significantly altered. PMID: 19944167
20. Nebulin regulates thin filament architecture by a mechanism that includes stabilizing the filaments and preventing actin depolymerization. PMID: 20498015
21. SH3 domain of nebulin binds selectively to type II peptides: theoretical prediction and experimental validation PMID: 11851340
22. Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy. PMID: 11994971
23. nebulin colocalizes with desmin in a Z-line-associated, striated pattern, thereby forming a lateral linkage system which contributes to maintain adjacent Z-lines in register as shown by immunofluorescence studies PMID: 12064939
24. Mutations caused absence of the C-terminal part of nebulin resulting in severe congenital form of nemaline myopathy. PMID: 12207937
25. Nebulin is targeted and oriented through titin and myopalladin signaling during sarcomere assembly PMID: 12482578
26. 45 novel mutations within the nubulin gene are associated with nemaline myopathy. PMID: 16917880
27. These data suggest that N-terminal superrepeat nebulin modules are incapable of supporting interactions with the cardiac myofilaments; whereas the C-terminal nebulin modules can. PMID: 17275809
28. These data suggest a model in which archvillin attaches directly to the Z-line of skeletal muscle through an interaction with the nebulin C-terminus. PMID: 18639526
29. In all but two of eight homozygous patients with nebulin mutations, the clinical picture was more severe than in typical nemaline myopathy. PMID: 19232495
30. Nebulin is thought to serve as both a length-regulating protein ruler and calcium/calmodulin-mediated regulatory protein on the thin filaments of the skeletal muscle sarcomere. PMID: 11425319

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HGNC: 7720

OMIM: 161650

KEGG: hsa:4703

UniGene: Hs.588655