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Mashup Score: 7
Researchers in China and Italy have made a significant breakthrough in understanding Dubin-Johnson syndrome (DJS), a rare inherited liver disorder. The team identified specific genetic mutations responsible …
Source: medicalxpress.comCategories: General Medicine News, General HCPsTweet
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Mashup Score: 0David Basanta (@dbasanta.bsky.social) - 7 month(s) ago
Inspiring presentation at #MoffittCancerCenter today by Baylor’s Susan M. Rosenberg talking about #cancerEvolution BUT looking at something less common: the DNA damageone and how extrinsic elements change a tumor cell’s mutation rate and thus key features of #cancer #evolution
Source: bsky.appCategories: Hem/Oncs, Latest HeadlinesTweet-
https://t.co/5SPFA7LVB4 #Cancer #Evolution #Mutations
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Mashup Score: 8Generation of precision preclinical cancer models using regulated in vivo base editing - 9 month(s) ago
Nature Biotechnology – The function of single-nucleotide variants can now be tested in a base editor mouse model.
Source: www.nature.comCategories: General Medicine News, Latest HeadlinesTweet-
New gene editing tool helps zero in on small #cancer-linked #mutations @WeillCornell @NatureBiotech https://t.co/J4rBkQb3yV https://t.co/SsJwKEV6HK
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Mashup Score: 0Research Identifies New Cause of Heart Failure Condition in Children - 12 month(s) ago
May 11, 2023 — In an effort to determine the cause behind a rare condition that causes heart failure in children, University of Maryland School of Medicine (UMSOM) researchers have identified new gene mutations responsible for the disorder in an infant patient. They were then able to learn how the mutation works and used a drug to reverse its effects in heart muscle cells derived from stem cells…
Source: DAICCategories: Cardiologists, Latest HeadlinesTweet-
@DAICeditor @UMmedschool In an effort to determine the cause behind a rare condition that causes #heartfailure in #children, #UMSOM researchers have identified new #gene #mutations responsible for the disorder in an #infant #patient: https://t.co/1xwdw9F4GF
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Mashup Score: 2A Large-Scale Exome-Wide Association Study Identifies Novel Germline Mutations in Lung Cancer - PubMed - 12 month(s) ago
Our findings provide insights into the genetic architecture of human exomes and their role in lung cancer predisposition.
Source: PubMedCategories: Future of Medicine, Latest HeadlinesTweet-
Collaborating with Harvard University @Harvard Mass General Hospital @MassGeneralNews and Nanjing University colleagues to find #germline #mutations in #lung cancer, article in the American Journal of Respiratory and Critical Care Medicine @ATSBlueEditor https://t.co/6tyboiRgva https://t.co/ntbYUwdXOR
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Mashup Score: 7Gene-editing technique could speed up study of cancer mutations - 12 month(s) ago
Genomic studies of cancer patients have revealed thousands of mutations linked to tumor development. However, for the vast majority of those mutations, researchers are unsure of how they contribute to cancer because there’s no easy way to study them in animal models.
Source: medicalxpress.comCategories: General Medicine News, Latest HeadlinesTweet-
Gene-editing technique could speed up study of #cancer #mutations @MIT @NatureBiotech https://t.co/Ir8GFhyHTv
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Mashup Score: 7Bird flu: Scientists find mutations, say threat is still low - 1 year(s) ago
A man in Chile is infected with a bird flu that has concerning mutations, but the threat to people from the virus remains low, U.S. health officials said Friday.
Source: medicalxpress.comCategories: General Medicine News, Latest HeadlinesTweet-
Bird #flu: Scientists find #mutations, say threat is still low https://t.co/vmmJ5RvOTA
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Mashup Score: 10
Researchers have created the largest atlas of post-zygotic genome mutations in healthy human tissue ever assembled—a scientific advancement that could unlock new avenues for diagnosing and treating genetic disease. It is the largest ever in terms of the combined number of tissues and number of donors sampled.
Source: medicalxpress.comCategories: General Medicine News, Latest HeadlinesTweet-
Researchers assemble comprehensive atlas of gene #mutations in human tissue @sciencemagazine https://t.co/pkmBiJrTCN
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Mashup Score: 9
Cancer experts have tried, sometimes unsuccessfully, to use the total number of mutations in a tumor, called the tumor mutation burden (TMB), to predict a patient’s response to immunotherapy. Now, investigators at the Johns Hopkins Kimmel Cancer Center and its Bloomberg~Kimmel Institute for Cancer Immunotherapy have found that a subset of mutations within the overall TMB, termed “persistent…
Source: medicalxpress.comCategories: General Medicine News, Latest HeadlinesTweet-
'Hard to lose' #mutations in tumors may predict response to #immunotherapy @NatureMedicine https://t.co/R9euk9vgKl
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Mashup Score: 4
It’s not just the number of mutations that matters. It’s the failure to fix them too.
Source: EurekAlert!Categories: General Medicine News, Latest HeadlinesTweet-
A new study by @RockefellerUniv scientists describes why older male fruit flies are more likely to pass #mutations onto their offspring, potentially shining a light on inherited-disease risk in humans #mutationalanalysis https://t.co/WgfZuri9ZL
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Dubin-Johnson Syndrome in twins linked to novel genetic #mutations https://t.co/9VvD8lrFIK