After a series of tumors, woman’s odd-looking tongue explains everything https://arstechni.ca/K6U5 #cowdensyndrome #Health #PTEN
After a series of tumors, woman’s odd-looking tongue explains everything

The woman was in her 60s when dermatologists finally figured things out.

Ars Technica

Happy #RareDiseasesDay to all #Spoonies! Einen schönen #TagDerSeltenenErkrankungen!

Obwohl Seltene Erkrankungen – wie der Name verrät – selten sind, leben allein in Deutschland rund 4 Millionen Betroffene, also 5% der hier lebenden Menschen. Ungefähr 80% der Seltenen Erkrankungen sind genetisch bedingt und viele der Symptome machen sich schon im Kindesalter bemerkbar.
Bei mir sind 33 Jahre ins Land gezogen, bis eine Mutation des #PTen Gens diagnostiziert wurde - natürlich ist man erstmal 1/×

#Ovariancancer cells lacking tumor suppressor #PTEN require an ARF #GTPase module for #integrin-dependent #invasiveness
A #RefereedPreprint c/o @ReviewCommons by Konstantina Nikolatou, David Bryant et al
https://www.embopress.org/doi/full/10.15252/embj.2023113987
Mechanism of PTEN deficient breast cancer detailed, suggesting improved therapeutics

A group of researchers led by the Dana-Farber Cancer Institute, Boston, has illustrated the mechanistic pathway for PTEN-deficient breast cancer and successfully tested a method of countering the downstream effects of immune system evasion by tumors.

Medical Xpress
Fishing for protein partners nets clues to autism | Spectrum | Autism Research News

Connections between 13 autism-linked proteins and their binding partners in excitatory neurons implicate a new molecular pathway.

Spectrum | Autism Research News
Gebe auch hier auf Mastodon die Suche nicht auf: Gibt es hier Menschen, die das #PTen #PTenHamartomaTumorSyndrom #PHTS haben?
Two-drug combo blunts autism-linked pathway in brain | Spectrum | Autism Research News

One drug blocks mTOR signaling, and the other stops the blocker from acting anywhere in the body but the brain, lowering the potential for side effects.

Spectrum | Autism Research News
New diagnostic code for PTEN syndrome may spur research | Spectrum | Autism Research News

The code may help scientists identify people with the autism-linked condition and recruit them into clinical trials.

Spectrum | Autism Research News
The cloudy connection between fragile X and cancer | Spectrum | Autism Research News

People with the autism-linked syndrome lack a protein implicated in several cancers, but it’s unclear whether — or how — they are protected from malignancies.

Spectrum | Autism Research News
Meet the ‘mitomaniacs’ who say mitochondria matter in autism | Spectrum | Autism Research News

Clues that problems with mitochondria contribute to autism have been accumulating for decades. In the past five years, a mutant mouse and a flurry of findings have energized the field.

Spectrum | Autism Research News