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A Darker Side to Retinoic Acid Revealed by Sarcomas

July 30, 2020 0

Summary: Monocytes, macrophages, and myeloid dendritic cells are central to the host response to cancer, and generally not in a good way. Tumor-associated macrophages, often the most abundant cells in tumor microenvironments, are recruited and “corrupted” by malignant cells to aid the growth and spread of… Source: The New England […]

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RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares

July 16, 2020 0

Summary: Rheumatoid arthritis symptoms are highly dynamic, with periods of stability interrupted by unpredictable flares of disease activity. Such waxing and waning clinical courses are characteristic of many autoimmune diseases, including multiple sclerosis, systemic lupus erythematosus, and inflammatory… Source: The New England Journal of Medicine: Search Results in Genetics Read […]

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Bilateral Tumors — Inherited or Acquired?

July 16, 2020 0

Summary: Bilateral tumors in paired organs are assumed to be hereditary in nature, because a family history of cancer and an earlier age at onset are often associated with such tumors. These observations led Knudson to develop a seminal “two-hit” model that established a statistical basis for evaluating… Source: The […]

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PRIME Time in Rheumatoid Arthritis

July 16, 2020 0

Summary: Rheumatoid arthritis, like many autoimmune diseases, has a course characterized by intermittent flares, yet our understanding of the mechanisms underlying flares remains limited. In an article published in this issue of the Journal, Orange and colleagues describe a study in which serial fingerstick… Source: The New England Journal of […]

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Etiologic Index — A Case-Only Measure of BRCA1/2–Associated Cancer Risk

July 16, 2020 0

Summary: To the Editor: We propose a genetic epidemiologic metric derived from sequencing tumor cells and matched “normal” cells (typically peripheral-blood mononuclear cells); this metric can be used to evaluate the relevance of germline pathogenic variants (GPVs) in tumor-suppressor genes to the… Source: The New England Journal of Medicine: Search […]

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SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS

July 9, 2020 0

Summary: In 10% of patients with amyotrophic lateral sclerosis (ALS), the disease is hereditary and is caused by single-gene mutations. In animal models of familial ALS resulting from mutations in the gene encoding superoxide dismutase 1 (SOD1), suppression of the mutated gene increases survival. In… Source: The New England Journal […]

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Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

July 9, 2020 0

Summary: Up to 2% of all cases of amyotrophic lateral sclerosis (ALS) result from mutations in the gene encoding superoxide dismutase 1 (SOD1). More than 180 different SOD1 mutations have been identified in ALS. Disease penetration, progression rate, and prognosis are variable and may be mutation-specific.… Source: The New England […]

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The Beginning of Genomic Therapies for ALS

July 9, 2020 0

Summary: Amyotrophic lateral sclerosis (ALS) is a heterogeneous disorder of progressive degeneration of upper and lower motor neurons that typically leads to death from ventilatory failure within 5 years after the onset of illness. Genetic factors account for half of the variance in the risk of the… Source: The New […]