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抗Human SYNE1 抗体:
抗Mouse (Murine) SYNE1 抗体:
抗Rat (Rattus) SYNE1 抗体:
Mouse (Murine) Monoclonal SYNE1 Primary Antibody for ICC, IF - ABIN108653
Korkhov, Zuber: Direct observation of molecular arrays in the organized smooth endoplasmic reticulum. in BMC cell biology 2009
Show all 3 Pubmed References
Human Polyclonal SYNE1 Primary Antibody for ICC, IF - ABIN4357268
Göb, Schmitt, Benavente, Alsheimer: Mammalian sperm head formation involves different polarization of two novel LINC complexes. in PLoS ONE 2010
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.
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.
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.
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.
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.
Nonsense mutation in the ultimate exon of full-length SYNE1 causes congenital onset of muscular weakness with distal arthrogryposis.
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.
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.
This study demonstrate four novel truncating mutations in SYNE1 in pedigrees from British, Sri Lankan and Turkish origin in patient with cerebellar ataxia.
A full length transcript homologous to rat CPG2 exists within human SYNE1. A full length transcript homologous to rat CPG2 exists within human SYNE1.
SNP rs79575945 in ESR1 gene is associated with cancers of endometrioid subtype and resulted in the expression of SYNE1.
Mechanostimulation mediates nuclear changes in oligodendrocyte progenitor cells via the SYNE1 complex.
our data suggest that SYNE1 and FOXE1 are promising markers for colorectal cancer detection.
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.
ur results show that SNPs rs9371601 and rs3093664 in the SYNE1 and TNF genes respectively, are associated with menstrual migraine.
The significance of these shorter isoforms of nesprin, were evaluated.
A report of a family with a SYNE1 gene mutation that seems to cause an "Emery-Dreifuss muscular dystrophy-like" phenotype.
nesprin-1 and nesprin-2 both regulate nuclear and cytoplasmic architecture.
a role for Nesprin-1 in the DNA damage response pathway
FOXE1 and SYNE1 hypermethylation markers demonstrated significantly increased expression in neoplastic tissue.
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described.
, myocyte nuclear envelope protein 1
, nesprin 1
, nuclear envelope spectrin repeat-1
, synaptic nuclear envelope protein 1
, synaptic nuclei expressed gene 1
, nuclear envelope spectrin repeat protein 1
, synaptic nuclear envelope 1
, spectrin repeat containing, nuclear envelope 1
, chromosome 6 open reading frame 98