Generation of induced pluripotent stem cell line (TMOi001-A-11) carrying a homozygous deletion in the synemin gene using CRISPR/Cas9.

A number of genetic variants in the SYNM gene encoding for the intermediate filament synemin have been reported in patients with cardiomyopathies, skeletal myopathies, cancer and certain neurodegenerative disorders. To better understand its role, we generated a human induced pluripotent stem cell line with a homozygous deletion in the SYNM gene by CRISPR/Cas9 genome editing. The synemin-knockout human induced pluripotent stem cells exhibit typical morphology of pluripotent cells, expression of pluripotency markers, normal karyotype and differentiation capacity in the three germ layers.

Interrelation between α-Cardiac Actin Treadmilling and Myocardin-Related Transcription Factor-A Nuclear Shuttling in Cardiomyocytes.

Myocardin-related transcription factors (MRTFs) play a central role in the regulation of actin expression and cytoskeletal dynamics that are controlled by Rho GTPases. SRF is a ubiquitous transcription factor strongly expressed in muscular tissues. The depletion of SRF in the adult mouse heart leads to severe dilated cardiomyopathy associated with the down-regulation of target genes encoding sarcomeric proteins including α-cardiac actin.

Medication-related osteonecrosis of the jaw related to epacadostat and pembrolizumab.

MRONJ is a well-known side effect of various medications, such as antiresorptive drugs, anti-angiogenic agents, immunomodulators and immunosuppressants. MRONJ related to immunotherapy is rarely described, with only one case related to ipilimumab. The interaction between the immune system and osteoclast lineage cells is well known.

Cardioprotective effects of α-cardiac actin on oxidative stress in a dilated cardiomyopathy mouse model.

The expression of α-cardiac actin, a major constituent of the cytoskeleton of cardiomyocytes, is dramatically decreased in a mouse model of dilated cardiomyopathy triggered by inducible cardiac-specific serum response factor (Srf) gene disruption that could mimic some forms of human dilated cardiomyopathy. To investigate the consequences of the maintenance of α-cardiac actin expression in this model, we developed a new transgenic mouse based on Cre/LoxP strategy, allowing together the induction of SRF loss and a compensatory expression of α-cardiac actin. Here, we report that maintenance of α-cardiac actin within cardiomyocytes temporally preserved cytoarchitecture from adverse cardiac remodeling through a positive impact on both structural and transcriptional levels.

Congenital Unilateral Zygomatico-Maxillo-Mandibular Fusion.

Congenital fusion of the jaws (syngnathia) is a rare and severe disorder. The authors report a case of bony fusion of the left mandible with the maxilla and zygomatic complex in a 5-day-old male who was not able to feed and open his mouth normally. Early surgery was performed to release the bony fusion on the tenth day of life.