Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can ...

Pain perception is a vital protective mechanism.1 However, chronic pain, maladaptive and persistent, constitutes a major disease burden.2 Reliance on opioid analgesics is fraught with risks of ...

Correspondence to Dr Dorothy Halliday, Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Hospital, Windmill Rd, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; dorothy.halliday{at ...

Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal ...

Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual ...

Dr Mégarbané, Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, 42 rue de Grenelle, 75007 Paris, France. This kindred (fig 1) resides in southern Lebanon and belongs to the ...

Background Chimeric antigen receptor T (CAR-T) cells engineered with lentiviral and retroviral vectors have been successfully applied to treat patients with B cell malignancy. However, viral ...

1 Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 2 Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center ...

Li-Fraumeni syndrome (LFS) is a high-risk hereditary cancer predisposition syndrome affecting 1 in 5000 individuals. Current ...

Background Molecular genetic diagnoses are critical to prevention and treatment of inherited polyposis and colorectal cancer.

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