LEM Domain Containing 3 (LEMD3) ELISA Kits

Human LEM Domain Containing 3 (LEMD3) interaction partners

1. Here we describe the unusual case of a 60-year-old woman with isolated nevus elasticus and a mutation in the LEMD3 (LEM Domain Containing 3) gene.

2. analysis of the structural basis for R-SMAD recognition by MAN1 using SMAD2-MAN1 and SMAD1-MAN1 complex structures

3. LEMD3 is cleaved by PPM1a into fragments that enter the cytosol to bind SMAD2 and SMAD3, thereby antagonizing signaling initiated by stiffness-triggered activity of TGFbeta.

4. 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.

5. LAMD3 Y871X mutation is associated with osteopoikilosis.

6. Letter/Case-Report: novel frameshift mutation in RNA recognition motif of LEMD3 in patient with Buschke-Ollendorff syndrome.

7. A novel mutation in LEMD3 splice site results in Buschke-Ollendorff syndrome.

8. Data indicate that the inner nuclear membrane protein MAN1 directly binds the transcription activator BMAL1 promoter and enhances its transcription.

9. 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.

10. The absence of direct binding of BAF to MAN1-C eliminates disruption of this interaction as the cause of the premature aging phenotype.

11. 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.

12. Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.

13. 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.

14. Absence of LEMD3 mutation in the exons and splice sites of a family with BOS suggests that there is genetic heterogeneity for this disorder.

15. The C-terminal domain of human MAN1 binds to Smad2 and Smad3 and antagonizes signaling by transforming growth factor-beta

16. Overexpression results in inhibition of R-Smad phosphorylation, heterodimerization with Smad4, and nuclear translocation

17. Data describe the direct binding of the nuclear membrane protein MAN1 to emerin in vitro.

18. germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

19. MAN1 binds simultaneously to R-Smads and their targeted DNA sequences

20. novel mutation associated with familial cutaneous collagenomas

Mouse (Murine) LEM Domain Containing 3 (LEMD3) interaction partners

1. 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.

2. the heterozygous Lemd3 gene-trapped mouse is not a good model to study osteopoikilosis and the Buschke-Ollendorff syndrome.

3. 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.

4. The nuclear envelope protein MAN1 regulates TGFbeta signaling and vasculogenesis in the embryonic yolk sac.

5. Man1 regulates left-right asymmetry by controlling Nodal signaling in a node-independent manner

Pig (Porcine) LEM Domain Containing 3 (LEMD3) interaction partners

1. Genome-wide analysis combined with linkage results revealed LEMD3 and WIF1 as the candidates for porcine ear size.

Xenopus laevis LEM Domain Containing 3 (LEMD3) interaction partners

1. 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