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genetica casuale

Mismatch repair germline pathogenic variants could predispose to uveal melanoma Giugno 21, 2025
Mismatch repair (MMR) germline alterations are enriched among patients with uveal melanoma (UM), according to a study published online June 18 in JAMA Ophthalmology.
Computational tool exposes hidden cancer DNA changes that may drive treatment resistance Giugno 21, 2025
Some of the most harmful genetic changes in cancer are also the hardest to see. These structural alterations, deep within a tumor's DNA, can fuel aggressive growth and evade standard testing, especially when tissue samples are small or degraded.
Genetics of cardiomyopathy risk in childhood cancer survivors differ by age of onset, study shows Giugno 21, 2025
The relationship between genetic variants and the risk of late-onset cardiomyopathy remains poorly understood in survivors of childhood cancer despite being otherwise well established. Scientists from St. Jude Children's Research Hospital have helped address this gap, assessing whether variant trends seen in the general population also apply to late-onset cardiomyopathy in five-year survivors of childhood […]
Hidden cases of rare disease uncovered by rapid genetic testing method Giugno 20, 2025
A new laboratory method developed by researchers at Columbia University Vagelos College of Physicians and Surgeons may now help physicians more quickly diagnose patients with suspected genetic disorders of the immune system, many who have been trapped in diagnostic limbo for years.
Novel gene linked to neurodevelopmental disorders and epilepsy could improve diagnosis Giugno 19, 2025
Researchers from Children's Hospital of Philadelphia (CHOP) have identified a novel gene associated with neurodevelopmental disorders and epilepsy. The study, published in the American Journal of Human Genetics, leveraged large data depositories, state-of-the-art computational techniques and community-based gene matching to identify this new gene, which is a critical early step in improving diagnosis and eventually […]

commenti recenti

20urbain05 di Orofacial clefts: Can genetic variants reveal how they arise?: “It would be of particular interest, which of the many existing sequence variants of the DDX1 gene is (are) particularly…” Apr 19, 13:33
20justin03 di Molecular differences in pancreatic cancer of patients with Caucasian or African Ethnicity: “Some new knowledge on the aggressivity of pancreatic cancer. Not yet known if this mechanism is more active in some…” Apr 17, 15:43
Joseph Gut - thasso di Semagludite: The cause for NAION and Blood Clots?: “NAION is slowly developing into a case for legal actions, according to Tom Lamb at Drug Injury Watch. https://www.drug-injury.com” Apr 10, 13:48
Joseph Gut - thasso di Molecular differences in pancreatic cancer of patients with Caucasian or African Ethnicity: “Newest research: New hope for patients with pancreatic cancer? https://medicalxpress.com/news/2025-04-proof-concept-approach-pancreatic-cancer.html” Apr 9, 14:02
Joseph Gut - thasso di Molecular differences in pancreatic cancer of patients with Caucasian or African Ethnicity: “Just an interesting aspect within pancreatic cells: https://medicalxpress.com/news/2025-04-pancreatic-cells-cancer-linked-epigenetic.html” Apr 6, 13:05

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