Biancastella Cereser et al.
The Journal of pathology, 244(1), 61-70 (2017-09-25)
It is widely accepted that the cell of origin of breast cancer is the adult mammary epithelial stem cell; however, demonstrating the presence and location of tissue stem cells in the human breast has proved difficult. Furthermore, we do not...
Zeinab Hegab et al.
FEBS open bio, 7(11), 1672-1685 (2017-11-11)
Advanced glycation end products (AGE) are central to the development of cardiovascular complications associated with diabetes mellitus. AGE may alter cellular function through cross-linking of cellular proteins or by activating the AGE receptor (RAGE). However, the signalling molecules involved during...
Ben C Orem et al.
Neurobiology of disease, 106, 235-243 (2017-07-16)
Severed CNS axons often retract or dieback away from the injury site and fail to regenerate. The precise mechanisms underlying acute axonal dieback and secondary axonal degeneration remain poorly understood. Here we investigate the role of Ca
Manu Jokela et al.
Neurology, 92(14), e1600-e1609 (2019-03-08)
To identify the genetic defect causing a distal calf myopathy with cores. Families with a genetically undetermined calf-predominant myopathy underwent detailed clinical evaluation, including EMG/nerve conduction studies, muscle biopsy, laboratory investigations, and muscle MRI. Next-generation sequencing and targeted Sanger sequencing...
Hernan D Gonorazky et al.
American journal of human genetics, 104(3), 466-483 (2019-03-05)
Gene-panel and whole-exome analyses are now standard methodologies for mutation detection in Mendelian disease. However, the diagnostic yield achieved is at best 50%, leaving the genetic basis for disease unsolved in many individuals. New approaches are thus needed to narrow...