Goldenhar syndrome is a rare congenital disease, affecting early fetal development. This syndrome includes malformations of varying severity, affecting different parts of the face. Its causes and modes of transmission are ...
May 4, 2023
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A team with the participation of researchers from the Institute for Advanced Chemistry of Catalonia (IQAC) of the Spanish National Research Council (CSIC) has revealed the structure of the protein responsible for Huntington's ...
Apr 20, 2023
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Cedars-Sinai investigators have identified a genetic variant that increases people's risk of developing perianal Crohn's disease, the most debilitating manifestation of Crohn's disease.
Apr 20, 2023
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A study by Indiana University School of Medicine researchers sheds new light on the development and treatment of a rare form of muscular dystrophy. The study's findings were recently published in Nature Communications.
Apr 5, 2023
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A University of California, Riverside, study has identified the biological underpinnings of a reproductive disorder caused by the mutation of a gene. This gene mutation also causes Fragile X Syndrome, a leading genetic cause ...
Apr 4, 2023
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Scientists have identified an autoinflammatory disease caused by mutations in the LYN gene, an important regulator of immune responses in health and disease. Named Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI), ...
Mar 28, 2023
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Scientists at St. Jude Children's Research Hospital and Rockefeller University have combined their expertise to gain a better understanding of the cystic fibrosis transmembrane conductance regulator (CFTR). Mutations in CFTR ...
Mar 22, 2023
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Researchers in China have successfully restored the vision of mice with retinitis pigmentosa, one of the major causes of blindness in humans. The study, to be published March 17 in the Journal of Experimental Medicine, uses ...
Mar 17, 2023
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Researchers have discovered how a gene that increases the risk of developing genetic heart disease functions, paving the way for new treatments.
Mar 1, 2023
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Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less ...
Feb 6, 2023
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