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A progeroid syndrome in mice is caused by defects in A-type lamins
TLDR
A mouse model for progeria is presented that may elucidate mechanisms of ageing and development in certain tissue types, especially those developing from the mesenchymal cell lineage. Expand
Dysfunctional connections between the nucleus and the actin and microtubule networks in laminopathic models.
TLDR
Results indicate a new function for emerin in cell polarization and suggest that laminopathies are not directly associated with cells' inability to polarize, but rather with cytoplasmic softening and weakened adhesion mediated by the disruption of the LINC complex across the nuclear envelope. Expand
Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.
TLDR
The derivation of mice lacking emerin is described in an attempt to derive a mouse model for EDMD1, suggesting that the dominant LMNA mutations seen in many clinically disparate laminopathies may similarly alter Rb function, with regard to either the timing of exit from the cell cycle or terminal differentiation programs. Expand
Functional coupling between the extracellular matrix and nuclear lamina by Wnt signaling in progeria.
TLDR
A functional link between the nuclear envelope/lamina and the cell surface/ECM is established and may provide insights into the role of Wnt signaling and the ECM in aging. Expand
Disruption of the mouse necdin gene results in early post-natal lethality
TLDR
Mice carrying a paternally inherited Ndn deletion allele demonstrated early post-natal lethality and this is the first example of a single gene being responsible for phenotypes associated with PWS. Expand
The lipid phosphatase LPP3 regulates extra-embryonic vasculogenesis and axis patterning
TLDR
It is shown that mouse embryos deficient for LPP3 fail to form a chorio-allantoic placenta and yolk sac vasculature and mutant forms of L PP3, specifically lacking phosphatase activity, were able to inhibit β-catenin-mediated TCF transcription and also suppress axis duplication, although not as effectively as intact LPP2. Expand
Zac1 (Lot1), a Potential Tumor Suppressor Gene, and the Gene for ɛ-Sarcoglycan Are Maternally Imprinted Genes: Identification by a Subtractive Screen of Novel Uniparental Fibroblast Lines
TLDR
It is shown that the ɛ-sarcoglycan gene (Sgce) and Zac1 (Lot1) are both paternally expressed imprinted genes, and Sgce is a candidate gene for embryonic lethality associated with uniparental maternal inheritance of this region. Expand
Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.
TLDR
It is hypothesized that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS. Expand
Paternal and maternal genomes confer opposite effects on proliferation, cell-cycle length, senescence, and tumor formation
TLDR
The results reveal a route by which malignant choriocarcinoma may arise from molar pregnancies and suggest that the derivation of stem cells from parthenogenetic embryos, for the purposes of therapeutic cloning, may be ineffective. Expand
Functions of the nuclear envelope and lamina in development and disease.
TLDR
The NE/lamina is envisaged functioning as a key cellular 'hub' in integrating critical functions that include chromatin organization, transcriptional regulation, mechanical integrity of the cell and signalling pathways, as well as acting as akey component in the organization and function of the cytoskeleton. Expand
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