Use your antibodies-online credentials, if available.
Il n’y a pas de produits dans votre liste de comparaison.
Votre panier est vide.
This locus encodes a LEM domain-containing protein. De plus, nous expédions LEM Domain Containing 3 Anticorps (22) et LEM Domain Containing 3 Kits (4) et beaucoup plus de produits pour cette protéine.
Showing 3 out of 3 products:
studies demonstrated that lower levels of MAN1 in differentiating MSC are associated with higher osteogenesis and lower adipogenesis. High levels of MAN1 only affected adipogenesis.
LAMD3 Y871X mutation is associated with osteopoikilosis.
Letter/Case-Report: novel frameshift mutation in RNA recognition motif of LEMD3 in patient with Buschke-Ollendorff syndrome.
A novel mutation in LEMD3 splice site results in Buschke-Ollendorff syndrome.
Data indicate that the inner nuclear membrane protein MAN1 directly binds the transcription activator BMAL1 promoter and enhances its transcription.
a nuclear envelope-localized mechanism of inactivating TGF-beta signaling in which MAN1 competes with transcription factors for binding to Smad2 and Smad3 and facilitates their dephosphorylation by PPM1A.
The absence of direct binding of BAF to MAN1-C eliminates disruption of this interaction as the cause of the premature aging phenotype.
Genetic analyses of three generations of a family with Buschke-Ollendorff syndrome having a variable phenotype showed a novel c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induced a change in the 735 arginine codon to a stop codon.
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.
We found a novel c.2203C > T (p.R735X) mutation in exon 9 of LEMD3, resulting in a premature stop codon at amino acid position 735.
Absence of LEMD3 mutation in the exons and splice sites of a family with BOS suggests that there is genetic heterogeneity for this disorder.
The C-terminal domain of human MAN1 binds to Smad2 and Smad3 and antagonizes signaling by transforming growth factor-beta
Overexpression results in inhibition of R-Smad phosphorylation, heterodimerization with Smad4, and nuclear translocation
Data describe the direct binding of the nuclear membrane protein MAN1 to emerin in vitro.
germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis
MAN1 binds simultaneously to R-Smads and their targeted DNA sequences
novel mutation associated with familial cutaneous collagenomas
novel heterozygous splice-site mutation in a Japanese kindred with Buschke-Ollendorff syndrome
The LEMD3 mutation reported was clearly the cause of osteopoikilosis in the two families but its relationship to melorheostosis in one of the family members is still unclear.
Identified two mutations in the two cases of Buschke-Ollendorff syndrome. The mutation (c.2564G>A) is novel. The present study supports the general conclusion that LEMD3 mutations do not contribute to isolated sporadic melorheostosis.
the heterozygous Lemd3 gene-trapped mouse is not a good model to study osteopoikilosis and the Buschke-Ollendorff syndrome.
In Man1-deficient embryos, the expression of Tgfb1 is upregulated and Smad2/3 signaling is abnormally activated, resulting in increased extracellular matrix deposition, a hallmark of the resolution phase of angiogenesis.
The nuclear envelope protein MAN1 regulates TGFbeta signaling and vasculogenesis in the embryonic yolk sac.
Man1 regulates left-right asymmetry by controlling Nodal signaling in a node-independent manner
Genome-wide analysis combined with linkage results revealed LEMD3 and WIF1 as the candidates for porcine ear size.
LEM proteins, involved in signalling essential for organ development during early embryogenesis and suggests that loss of MAN1 may cause muscle and retina specific diseases
This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
LEM domain-containing protein 3
, inner nuclear membrane protein Man1
, integral inner nuclear membrane protein
, integral inner nuclear membrane protein MAN1
, LEM domain containing 3
, Smad1 antagonistic effector
, LEM domain containing 3 S homeolog
, nuclear membrane protein XMAN1