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The New England Journal of Medicine: Search Results in Genetics
The New England Journal of Medicine (NEJM) RSS feed -- Search Results in Genetics. NEJM ( is a weekly general medical journal that publishes new medical research findings, review articles, and editorial opinion on a wide variety of topics of importance to biomedical science and clinical practice.

Autoimmune Polyendocrine Syndromes
01/01/70 - Autoimmune polyendocrine syndromes comprise a diverse group of clinical conditions characterized by functional impairment of multiple endocrine glands due to loss of immune tolerance. These syndromes also frequently include conditions such as alopecia, vitiligo, celiac disease, and autoimmune…

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
01/01/70 - Chronic liver disease and cirrhosis are leading causes of illness and death, accounting for 38,170 deaths (1.5% of total deaths) in 2014 in the United States. The most common causes of cirrhosis are alcoholic liver disease, chronic hepatitis C, and nonalcoholic fatty liver disease. The prevalence…

Cellular Reprogramming in the Retina ? Seeing the Light
01/01/70 - The degeneration of retinal neurons is the end point of the most common causes of irreversible blindness, affecting more than 50 million persons worldwide. In nonmammalian vertebrates such as fish, retinal injury is followed by a dedifferentiation and subsequent reprogramming process in which…

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy
01/01/70 - Juvenile myoclonic epilepsy is the most common form of genetic generalized epilepsy and the most common cause of seizures among adolescents and young adults. The disorder is distinguished by the clinical features of myoclonus when the patient awakens from sleep after being sleep-deprived or exposed…

Case 7-2018: A 25-Year-Old Man with New-Onset Seizures
01/01/70 - Presentation of Case. Dr. Ethan I. Meltzer (Neurology): A 25-year-old man was admitted to this hospital because of new-onset seizures. The patient had been in his usual state of health until 2 days before admission, when episodes of twitching of the head and neck occurred. The first episode…

Balancing Safety and Innovation for Cell-Based Regenerative Medicine
01/01/70 - Regenerative medicine is a field that involves replacing, engineering, or regenerating human cells, tissues, or organs to establish, restore, or enhance normal function. It is an area with great promise that goes directly to the role of the Food and Drug Administration (FDA) in helping to…

A Gain-of-Function Mutation in EPO in Familial Erythrocytosis
01/01/70 - Inherited forms of primary erythrocytosis with low serum levels of erythropoietin are caused by mutations in the erythropoietin-receptor gene (EPOR), SH2B3 (LNK), or JAK2. Inherited forms of secondary erythrocytosis with elevated erythropoietin levels are mainly caused by mutations in genes…

Swell Findings in Hydrogels
01/01/70 - Targeted surgery requires spatial and temporal selectivity, which is an elusive goal; the realization of this goal may be aided by materials that undergo conformational changes in response to remote stimuli. A recent study by Cangialosi et al. is notable in this regard; it shows that a hydrogel…

Efficacy of Larotrectinib in TRK Fusion?Positive Cancers in Adults and Children
01/01/70 - The neurotrophic receptor tyrosine kinase genes NTRK1, NTRK2, and NTRK3 encode the tropomyosin receptor kinase (TRK) proteins TRKA, TRKB, and TRKC, respectively. After embryogenesis, TRK expression is limited primarily to the nervous system, where these kinases help regulate pain, proprioception,…

Developing Anticancer Drugs in Orphan Molecular Entities ? A Paradigm under Construction
01/01/70 - Genomic characterization of cancers has shown that some oncogenic alterations occur at very low frequency and are shared across tumor types. For example, NTRK translocations mediate malignant transformation and are observed in less than 1% of cancers and in more than 20 cancer types. The genes…

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