Genetics

Underdog Reds in Piedmont: 5 original grapes that aren’t Nebiolo

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celebrate OrganizerAnd the worthy of age py with nebulo-Think Barolo And the Barbaresco—Fun and delicious BarberasAnd the Piedmont The brilliant reds of other little-known local grapes (some nearly extinct) also turn out to be full of character. Made from original grapes RocherBellaverga, Frisa, Grignolino and Vespolina, a few of these graceful reds have genetic ties … Read more

Researchers have found a link between genetic mutations and resistance to cancer treatment

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researchers from Rogel Cancer Center at the University of MichiganBy studying the molecular landscape of more than 500 patients with an aggressive form of multiple myeloma, he discovered the prevalence of active major cancer pathways in these patients, far more than previously thought. over 45-65% of the NF-κB and RAS/MAPK pathways each have modifications. The … Read more

Leon Rosenberg, MD

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Leon Rosenberg, MD, former dean of Yale University School of Medicine and inaugural chair of the Department of Genetics, died on July 22, 2022. As a physician and scientist who pioneered the discovery, understanding, and treatment of human metabolic disorders, Rosenberg will be remembered for his pioneering vision in founding the department, for his discoveries … Read more

New combo treatments could prevent HIV from escaping

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Share this Article – Commodity You are free to share this article under the Attribution 4.0 International license. New research suggests that carefully designed cocktails of broad-based neutralizing antibodies, or bNAbs, could help treat HIV while reducing the risk of the virus developing “escape” from treatment. The study shows that computational methods for selecting sets … Read more

Hereditary stroke risk may be offset by optimal cardiovascular health

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A version of this story originally appeared on our brother’s website, Practical Cardiology. Data from an analysis of more than 11,000 middle-aged individuals without a history of stroke indicate that improved cardiovascular health – defined using the American Heart Association (AHA) Midlife Life Simple 7 – was associated with a reduced age of stroke across … Read more

A novel nonsense variant in ARID1B causes simultaneous RNA decay and exon skipping associated with Coffin-Siris syndrome.

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Historically, the diagnosis of CSS was entirely dependent on clinical features before molecular analyzes were performed. The main diagnostic criteria include the fifth/hypoplastic distal phalanx, psychomotor developmental delay, and coarse facial features.1. variables in ARID1B They are associated with different clinical phenotypes of intellectual disability, which are also recognized as ARID1BRelated disorders19. Morphological abnormalities in … Read more