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IRX-related homeobox gene MKX is a novel oncogene in acute myeloid leukemia.
PLoS One
December 2024
Dept. of Human and Animal Cell Lines, Leibniz-Institute DSMZ, Braunschweig, Germany.
Homeobox genes encode transcription factors which organize differentiation processes in all tissue types including the hematopoietic compartment. Recently, we have reported physiological expression of TALE-class homeobox gene IRX1 in early myelopoiesis restricted to the megakaryocyte-erythroid-progenitor stage and in early B-cell development to the pro-B-cell stage. In contrast, sister homeobox genes IRX2, IRX3 and IRX5 are aberrantly activated in the corresponding malignancies acute myeloid leukemia (AML) and B-cell progenitor acute lymphoid leukemia.
View Article and Find Full Text PDFA Sister Species for the Blue Crab, ? A Tale Revealed by Mitochondrial DNA.
Life (Basel)
September 2024
Department of Biomedical Sciences, University of Sassari, Viale San Pietro 43b, 07100 Sassari, Italy.
Article Synopsis
- The Atlantic blue crab is a big problem in the Mediterranean Sea because it's an invasive species, hurting nature and people's activities.
- It originally comes from the western Atlantic and has been spreading to European waters since the early 1900s.
- Researchers studied the crab's genetic makeup using many samples, finding two closely related groups and low genetic diversity in the Mediterranean, except for some differences in Turkey.
A tale of two sisters - delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia.
Endocrinol Diabetes Metab Case Rep
July 2024
Departments of Endocrinology and Diabetes, Surgery and General Medicine, St Vincent's Hospital Melbourne and the University of Melbourne, Victoria, Australia.
Summary: Congenital hyperinsulinism is the leading cause of persistent hypoglycaemia in infants and children; however, it is uncommon to be diagnosed in adulthood. We describe the cases of two sisters who presented with hyperinsulinaemic hypoglycaemia aged 47 and 57 years old, who were subsequently diagnosed with compound heterozygous likely pathogenic variants in the ABCC8 gene, a known cause of monogenic congenital hyperinsulinism. We discuss the typical presenting features, investigation findings, and treatment strategies for patients with this condition.
View Article and Find Full Text PDFCold case files: A tale of three sisters - solved by genetic testing with implications for LMNA cardiomyopathy.
Pacing Clin Electrophysiol
June 2024
Division of Cardiology, Department of Medicine, SUNY Health Sciences Center, Stony Brook, New York, USA.
Case of Hallervorden-Spatz Syndrome: A Tale of Twin Sisters.
Neurol India
March 2024
Department of Medicine, Base Hospital Delhi Cantt, New Delhi, India.
Hallervorden-Spatz syndrome, now known as pantothenate kinase-associated neurodegeneration (PKAN), is a rare autosomal recessive disorder that is characterized by cerebral iron deposition and leads to progressive extrapyramidal dysfunction and dementia. Most commonly seen in the first two decades of a person's life, it is a differential for patients presenting with atypical progressive extrapyramidal disorder and cognitive impairment. It is characterized by progressive degeneration of the basal ganglia, globus pallidus, and the reticular part of the substantia nigra due to iron accumulation.
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