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This locus encodes a LEM domain-containing protein. Additionally we are shipping LEM Domain Containing 3 Antibodies (19) and LEM Domain Containing 3 Proteins (3) and many more products for this protein.
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Genome-wide analysis combined with linkage results revealed LEMD3 and WIF1 (show WIF1 ELISA Kits) as the candidates for porcine ear size.
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 (show ARNTL ELISA Kits) promoter and enhances its transcription.
a nuclear envelope-localized mechanism of inactivating TGF-beta (show TGFB1 ELISA Kits) signaling in which MAN1 competes with transcription factors for binding to Smad2 (show SMAD2 ELISA Kits) and Smad3 (show SMAD3 ELISA Kits) and facilitates their dephosphorylation by PPM1A (show PPM1A ELISA Kits).
The absence of direct binding of BAF (show BANF1 ELISA Kits) 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 (show ELN ELISA Kits) 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.
Binds to Smad2 (show SMAD2 ELISA Kits) and Smad3 (show SMAD3 ELISA Kits) and antagonizes signaling by transforming growth factor-beta
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 (show TGFB1 ELISA Kits) is upregulated and Smad2 (show SMAD2 ELISA Kits)/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 (show TGFB1 ELISA Kits) signaling and vasculogenesis in the embryonic yolk sac (show ADCY10 ELISA Kits).
Man1 regulates left-right asymmetry by controlling Nodal signaling in a node-independent manner
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 3
, inner nuclear membrane protein Man1
, Smad1 antagonistic effector
, LEM domain-containing protein 3
, integral inner nuclear membrane protein
, integral inner nuclear membrane protein MAN1