http://www.embomolmed.org embo EarlyView RSS Feed http://www.embomolmed.org/details/journalArticle/1458259/A_polymorphism_in_a_let7_microRNA_binding_site_of_KRAS_in_women_with_endometrios.html Abstract Endometriosis is found in 5–15% of women of reproductive age and is more frequent in relatives of women with the disease. Activation of KRAS results in de novo endometriosis in mice, however, activating KRAS mutations have not been identified in women. We screened 150 women with endometriosis for a polymorphism in a let‐7 microRNA (miRNA) binding site in the 3'‐UTR of KRAS and detected a KRAS variant allele in 31% of women with endometriosis as... 2012-02-03T00:00:00Z http://www.embomolmed.org/details/journalArticle/1457151/Masthead.html 2012-02-01T00:00:00Z http://www.embomolmed.org/details/journalArticle/1457137/HedgehogEGFR_cooperation_response_genes_determine_the_oncogenic_phenotype_of_bas.html Abstract Inhibition of Hedgehog (HH)/GLI signalling in cancer is a promising therapeutic approach. Interactions between HH/GLI and other oncogenic pathways affect the strength and tumourigenicity of HH/GLI. Cooperation of HH/GLI with epidermal growth factor receptor (EGFR) signalling promotes transformation and cancer cell proliferation in vitro. However, the in vivo relevance of HH‐EGFR signal integration and the critical downstream mediators... 2012-02-01T00:00:00Z http://www.embomolmed.org/details/journalArticle/1453685/Dantrolene_rescues_arrhythmogenic_RYR2_defect_in_a_patientspecific_stem_cell_mod.html Abstract Coordinated release of calcium (Ca2+) from the sarcoplasmic reticulum (SR) through cardiac ryanodine receptor (RYR2) channels is essential for cardiomyocyte function. In catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited disease characterized by stress‐induced ventricular arrhythmias in young patients with structurally normal hearts, autosomal dominant mutations in RYR2 or recessive mutations in calsequestrin... 2012-01-25T00:00:00Z http://www.embomolmed.org/details/journalArticle/1457147/Rewarding_excellence_in_biomedical_research.html 2012-01-25T00:00:00Z http://www.embomolmed.org/details/journalArticle/1457149/Gut_reactions_immune_pathways_in_the_intestine_in_health_and_disease.html 2012-01-25T00:00:00Z http://www.embomolmed.org/details/journalArticle/1457153/Proteomics_for_biomedicine_a_halfcompleted_journey.html 2012-01-25T00:00:00Z http://www.embomolmed.org/details/journalArticle/1452019/_but_not_secretase_proteolysis_of_APP_causes_synaptic_and_memory_deficits_in_a_m.html Abstract A mutation in the BRI2/ITM2b gene causes loss of BRI2 protein leading to familial Danish dementia (FDD). BRI2 deficiency of FDD provokes an increase in amyloid‐β precursor protein (APP) processing since BRI2 is an inhibitor of APP proteolysis, and APP mediates the synaptic/memory deficits in FDD. APP processing is linked to Alzheimer disease (AD) pathogenesis, which is consistent with a common mechanism involving toxic APP... 2012-01-23T00:00:00Z http://www.embomolmed.org/details/journalArticle/1457145/Rab25_increases_cellular_ATP_and_glycogen_stores_protecting_cancer_cells_from_bi.html Abstract Cancer cells are metabolically stressed during tumour progression due to limited tumour vascularity and resultant nutrient, growth factor and oxygen deficiency that can induce cell death and inhibit tumour growth. We demonstrate that Rab25, a small GTPase involved in endosomal recycling, that is genomically amplified in multiple tumour lineages, is a key regulator of cellular bioenergetics and autophagy. RAB25 enhanced... 2012-01-18T00:00:00Z http://www.embomolmed.org/details/journalArticle/1441575/Mutant_p63_causes_defective_expansion_of_ectodermal_progenitor_cells_and_impaire.html Abstract Ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome, which is characterized by cleft palate and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor p63. Here, we report the generation of a knock‐in mouse model for AEC syndrome (p63+/L514F) that recapitulates the human disorder. The AEC mutation exerts a selective dominant‐negative function on... 2012-01-13T00:00:00Z http://www.embomolmed.org/details/journalArticle/1441577/Tumour_growth_inhibition_and_antimetastatic_activity_of_a_mutated_furinresistant.html Abstract Secreted Semaphorin 3E (Sema3E) promotes cancer cell invasiveness and metastatic spreading. The pro‐metastatic activity of Sema3E is due to its proteolytic fragment p61, capable of transactivating the oncogenic tyrosine kinase ErbB2 that associates with the Sema3E receptor PlexinD1 in cancer cells. Here, we show that a mutated, uncleavable variant of Sema3E (Uncl‐Sema3E) binds to PlexinD1 like p61‐Sema3E, but does not... 2012-01-13T00:00:00Z http://www.embomolmed.org/details/journalArticle/1457141/Nmyc_downstream_regulated_gene_1_modulates_Wntcatenin_signalling_and_pleiotropic.html Abstract Wnt signalling has pivotal roles in tumour progression and metastasis; however, the exact molecular mechanism of Wnt signalling in the metastatic process is as yet poorly defined. Here we demonstrate that the tumour metastasis suppressor gene, NDRG1, interacts with the Wnt receptor, LRP6, followed by blocking of the Wnt signalling, and therefore, orchestrates a cellular network that impairs the metastatic progression of... 2012-01-13T00:00:00Z http://www.embomolmed.org/details/journalArticle/1457143/Enterocyte_STAT5_promotes_mucosal_wound_healing_via_suppression_of_myosin_light_.html Abstract Epithelial myosin light chain kinase (MLCK)‐dependent barrier dysfunction contributes to the pathogenesis of inflammatory bowel diseases (IBD). We reported that epithelial GM‐CSF–STAT5 signalling is essential for intestinal homeostatic response to gut injury. However, mechanism, redundancy by STAT5 or cell types involved remained foggy. We here generated intestinal epithelial cell (IEC)‐specific STAT5 knockout mice, these... 2012-01-09T00:00:00Z http://www.embomolmed.org/details/journalArticle/1435377/Masthead.html 2012-01-02T00:00:00Z http://www.embomolmed.org/details/journalArticle/1435379/Through_a_glass_darkly.html 2011-12-19T00:00:00Z