Category: <span>Genetics</span>

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Study of Polynesian participants yields new clues to genetic causes of high cholesterol
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Study of Polynesian participants yields new clues to genetic causes of high cholesterol

by University of Pittsburgh Space-filling model of the Cholesterol molecule. Credit: RedAndr/Wikipedia The discovery of a genetic variant that is relatively common among people of Polynesian ancestry, but incredibly rare in most other populations, is giving clues to the genetic underpinnings of high cholesterol in all people, according to new research led by University of...

Researchers find gene mutations in scleroderma patients that could point to new treatments
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Researchers find gene mutations in scleroderma patients that could point to new treatments

by Gillian Rutherford, University of Alberta Mutation burden in the skin of patients with SSc. Skin biopsies were obtained from the distal forearm, the sequencing libraries were prepared from the microdissected areas of fibrosis and analyzed by whole exome sequencing. A: The number of synonymous and non-synonymous mutations in the samples; B: the types of...

Researchers identify a gene as a potential target in treatment-resistant brain cancer glioblastoma multiforme
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Researchers identify a gene as a potential target in treatment-resistant brain cancer glioblastoma multiforme

by University of California, Los Angeles Single-cell sequencing reveals the diverse functional states of glioma cells post-radiation. a UMAP plot of cell clusters from control (0 Gy) and 2- and 7-days radiated (8 Gy) fractions. b Histogram shows the number of cells per cluster in each group. c Heatmap shows Louvain clustering of co-expressed gene network modules and EnrichR GO_terms associated with each...

No heart damage despite hypertension
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No heart damage despite hypertension

MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE IN THE HELMHOLTZ ASSOCIATION IMAGE: SHORT FINGERS IN ONE FAMILY. CREDIT: SYLVIA BÄHRING For decades, scientists in Berlin have been researching a strange hereditary condition that results in half the members of certain families having unusually short fingers and extremely high blood pressure. If left untreated, the affected patients...

Epigenetic changes linked to Parkinson’s disease differ in men and women
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Epigenetic changes linked to Parkinson’s disease differ in men and women

by Rutgers University Credit: Pixabay/CC0 Public Domain The epigenetic changes linked to Parkinson’s disease—a nervous system disorder that afflicts nearly 1 million Americans—are different in men and women, according to a new Rutgers study published in npj Parkinson’s Disease. In a postmortem analysis of brain neurons, researchers compared samples from 50 people who died with Parkinson’s...

Study identifies new gene that drives colon cancer
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Study identifies new gene that drives colon cancer

by The Mount Sinai Hospital Recurrently dysregulated super-enhancers in CRC patients. a Study overview. Figure adapted from SMART Servier Medical Art, reproduced with permission, licensed under a Creative Commons Attribution 3.0 unported license. b PCA of H3K27ac signal at 2026 SEs in CRC (n = 15 independent tissue samples), normal mucosa (n = 15), crypts (n = 4), and FAP adenomas (n = 2). c, d GSEA between SE proximal...

Strict parenting may hard-wire depression risk into a child’s DNA
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Strict parenting may hard-wire depression risk into a child’s DNA

by European College of Neuropsychopharmacology Credit: Pixabay/CC0 Public Domain Strict parenting can alter the way the body reads the DNA of children. These changes can effectively become “hard-wired” to the DNA of those children who perceive their parents as harsh, increasing their biological risk for depression in adolescence and later life. Presenting the work at...

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Gene signature points to prognosis in kidney cancer

KAROLINSKA INSTITUTET Among patients with kidney cancer, the activity of four specific genes in the cancer cells seems to be able to predict the risk of the tumour spreading and the patient’s chances of survival. This is shown by researchers from Karolinska Institutet in Sweden in a preclinical study published in Nature Communications. “This could potentially...

Genetic testing helps detect children likely to have heart failure and require a transplant
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Genetic testing helps detect children likely to have heart failure and require a transplant

by Centenary Institute Credit: Unsplash/CC0 Public Domain Genetic testing can diagnose cardiomyopathy—a disease of the heart muscle—in children and help detect who will have heart failure and require a transplant, a new study has found. Researchers at the Centenary Institute and the Murdoch Children’s Research Institute (MCRI) have shown that genetic testing for cardiomyopathy in children and their first...

Scientists identify link between mitochondria and pancreatic cancer risk
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Scientists identify link between mitochondria and pancreatic cancer risk

by The Wistar Institute Differential expression of a Mic60-low gene signature in cancer. Credit: PLOS ONE (2022). DOI: 10.1371/journal.pone.0273520 The mitochondria is a key energy-producing component of the human cell that plays an important role in cancer cell metabolism. In a research paper published in PLOS ONE, Dario C. Altieri, M.D., president and chief executive officer, director of...