Summary and comment on a recent paper entitled ‘A PGC1-α-dependent myokine that drives brown-fat-like development of white fat and thermogenesis’ (Boström et al., 2012).
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339822 | PMC |
http://dx.doi.org/10.1242/dmm.009894 | DOI Listing |
Myeloid leukemias are heterogeneous cancers with diverse mutations, sometimes in genes with unclear roles and unknown functional partners. PHF6 and PHIP are two poorly-understood chromatin-binding proteins recurrently mutated in acute myeloid leukemia (AML). mutations are associated with poorer outcomes, while was recently identified as the most common selective mutation in Black patients in AML.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
Nonimmune foetal hydrops is a prenatal condition associated with significant perinatal mortality. It has so far been associated with over 200 chromosomal and monogenic conditions, most frequently chromosomal aneuploidies and RASopathies. Thorough clinical phenotyping and genetic evaluation are essential to determine the underlying etiology of this clinical entity and guide obstetrical and postnatal management.
View Article and Find Full Text PDFAm J Hum Genet
August 2024
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address:
The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders are currently unknown, and no diagnostic marker has been identified. Consequently, providing a definitive diagnosis in suspected individuals is challenging.
View Article and Find Full Text PDFGenet Med
February 2024
Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada. Electronic address:
Purpose: To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases.
Methods: We prospectively enrolled 297 probands who met eligibility criteria and received ES across 5 sites in Ontario, Canada, and extracted data from medical records and clinician surveys. Using the Fryback and Thornbury Efficacy Framework, we assessed diagnostic accuracy by examining laboratory interpretation of results and assessed diagnostic thinking by examining the clinical interpretation of results and whether clinical-molecular diagnoses would have been achieved via alternative hypothetical molecular tests.
Pathology
February 2024
Children's Hospital of Eastern Ontario (CHEO) Research Institute, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON, Canada.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!