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Individuen dunkler Hautfarbe mit natürlichen blonden Haaren – In der Genetik ist alles möglich

8. August 2019 – Blondes Haar ist ein eher seltener menschlicher Phänotyp, der fast ausschließlich in Europa und Ozeanien vorkommt. Die menschliche Pigmentierung variiert innerhalb und zwischen den Populationen erheblich und hängt sowohl von der Exposition gegenüber ultravioletter Strahlung (UV) als auch von der Art und Menge des in Melanozyten und Keratinozyten produzierten Melanins ab.

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Tamoxifen: Wechselwirkung mit CYP2D6-Inhibitoren

14. November 2010 –  Einer kürzlichen Mitteilung des BfArM entnehmen wir, dass die gleichzeitige Anwendung von Tamoxifen und starken Inhibitoren des Enzyms Cytochrom P450 2D6 (CYP2D6) möglichst vermieden werden sollte, da ansonsten eine reduzierte Wirksamkeit von Tamoxifen nicht ausgeschlossen werden kann.

Auf Europäischer (EU)-Ebene wurde die potentielle Wechselwirkung von Tamoxifen mit Inhibitoren des Enzyms CYP2D6 und der potentielle Effekt von CYP2D6 Genvarianten auf das klinische Ansprechen von Brustkrebspatientinnen auf die Tamoxifentherapie wissenschaftlich untersucht und diskutiert.

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  • Researchers retract paper that suggested Chinese CRISPR twins might die early October 15, 2019
    A pair of researchers from the University of California has retracted a paper they had published in the journal Nature Medicine in which they claimed to have found evidence that the Chinese CRISPR twins might die early. In their retraction, Xinzhu Wei and Rasmus Nielsen report that the reason for the retraction was genotyping bias […]
  • In-office gene therapy for wet age-related macular degeneration is coming October 11, 2019
    Gene therapy is showing promise for one of the most common causes of blindness. Data presented today shows that six patients with wet age-related macular degeneration (AMD) have, so far, gone at least six months without the need for continued injections to control a disease that typically requires treatment every four to six weeks. Researchers […]
  • Powerful new genomics method can be used to reveal the causes of rare genetic diseases October 11, 2019
    A team led by a scientist at Scripps Research has invented a new genomics technique for tracking down the causes of rare genetic diseases.
  • Jumping genes can cause rare developmental disorders in children October 11, 2019
    The largest study of its kind into childhood developmental disorders has discovered that jumping genes cause genetic changes in some patients with undiagnosed neurodevelopmental diseases. The research from the Wellcome Sanger Institute and its collaborators in the NHS Regional Genetics services enabled genetic diagnoses for three children with previously undiagnosed rare developmental diseases who were […]
  • New customized drug treatment bypasses a single child's unique mutation within a year of diagnosis October 10, 2019
    An unprecedented case at Boston Children's Hospital shows that it's possible to do something that's never been done before: identify a patient's unique mutation, design a customized drug to bypass it, manufacture and test the drug, and obtain permission from the Food and Drug Administration (FDA) to begin treating the patient—all in less than one […]
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