Giampaolo Trivellin
@GP_R101Assistant Professor @ Humanitas University in Milan 🇮🇹. UniPD 🇮🇹, QMUL 🇬🇧, NIH 🇺🇸, Marie Curie 🇪🇺 alumnus. EYRC coordinator 🇪🇺. Views are my own
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🚨🚨🚨 my lab latest peer-reviewed paper is out @FrontEndocrinol 😃 Check it out for free @ tinyurl.com/28x299ru It reports the identification of PAM (peptidylglycine α-amidating monooxygenase) as a candidate gene associated with pituitary hormone hypersecretion. A 🧵 1/9
🔆 Neuroendocrinology Watch 🔆 highlithing Lin B et al., Adv Sci 2024, reveal microbiome-metabolome links in craniopharyngioma. - ↑ Clostridium & disrupted purine metabolism - Hypoxanthine ↔ hypothalamic comorbidities - Redox imbalance fuels CP progression
🚨 Exciting news! The 10th interview of the EYRC training program is now live! 🎥 @GP_R101 had the pleasure of interviewing Prof @mariachzatelli during the ECE in Stockholm! 🎓 Prof. Zatelli is an endocrinologist from the Uni of Ferrara and Head of the Endocrine Unit!
🔆Neuroendocrinology Watch🔆 New insights on papillary CP treated with BRAF/MEK inh. by Alcubierre et al: 🔹 94% response, with improved headaches, vision & neuro symptoms. 🔹 Tumor volume reduction: 89% (neoadj.), 73% (adj.), 92% (pallia.). 🔹 63% tolerated treatment well
🚨 Neuroendocrinology Watch highlighting the paper by Lin et al in Genome Medicine. 🧠 Key insights: 1️⃣ Single-cell transcriptomics of 23 PitNETs. 2️⃣ Discovery of 5 potential macrophage subtypes. 3️⃣ CX3CR1+ macrophages may induce tumor apoptosis via the INHBA-ACVR1B axis.
Link to the study highlighted by @GP_R101 Spatial Transcriptomic Analysis of Pituitary Corticotroph Tumors: academic.oup.com/jes/article/8/…
🚨 Neuroendocrinology Watch spotlighting Piña et al. 1⃣ Gene expression annotations align with pathologists' findings. 2⃣Notable intratumor heterogeneity observed in cell clusters. 3⃣Spatial transcriptomics shows promise for small pituitary tumors without multiple stains.
🎉Huge congratulations to the #EYRC award winners at #ENEA2024! 🏅 Oral Basic: Athina Mavropoulou 🏅 Oral Clinical: Cihan Atila 🏅 Poster Basic Research: Federica Mangili 🏅 Poster Clinical: Loren Van der Hoeven Your outstanding work is shaping the future of @ENEAssoc
Biggest medical discoveries of the week (🧵) 1/10 A new genetic condition, and insights into the gene that causes it: G protein, GNAI2 Patients' immune cells have impaired migration (videos) and hyperactivation - causing infections and autoimmunity science.org/doi/10.1126/sc…
In a collaborative @NIAIDNews-led study, researchers found that mutations in the GNAI2 gene increase susceptibility to infection and weaken immunity by impairing T cell signaling and crosstalk @ScienceMagazine science.org/doi/10.1126/sc…
Enjoy open access to our new study: genomemedicine.biomedcentral.com/articles/10.11…
Huge thanks to my long-term collaborators Dr. Adrian Daly @CHULiege, Dr. Giampalolo Trivellin @GP_R101 @HUNIMED (👇 picture of our get-together in Seville), our clinical partners worldwide, and most importantly, the patients and their families. @CABD_UPO_CSIC , @BecariosFLC
Our research highlights the importance and potential of using #3Dgenome data in medical genetics practice and it makes me more than happy to support families.
Our work contributed to a refined diagnosis for several individuals, including a young patient, reducing the need for intensive disease monitoring and easing the parents' anxiety.
Using 4C-seq/Hi-C in patient cells, we distinguished X-LAG-associated duplications from neutral GPR101 duplications. Unlike X-LAG, the latter did not form a neo-TAD or cause ectopic chromatin contacts. Figure abstract here:
🚨 Neuroendocrinology Watch spotlighting Mamelak et al. in JCEM. 1️⃣Surgery for severe cases, but med & surgic. outcomes similar in 100 apoplexy cases 2️⃣Timing of surgery didn’t affect outcomes—expert neurosurgeon transfer is key 3️⃣Med mgmt reduced tumor volume at 3 months
Check out our new study just published in @GenomeMedicine! Important findings for medical geneticists 👨⚕️🧬🔬 #3dgenome #chromatin #gigantism #GPR101 #TADopathy #X-LAG @ENEA_Young @ENEAssoc @EYEScientists @EnGioi_Endo
In new work on GM, Daly and coll. demonstrate how chromatin conformation capture methods can help the diagnostic interpretation of pathogenic events involving complex genomic structural rearrangements @GP_R101 @mamartl genomemedicine.biomedcentral.com/articles/10.11…
It was a pleasure to work with my collaborators (friends!) on this study! Our findings show the importance of interrogating the 3D genome to get a precise genetic diagnosis. Big thanks to my hosting Institution @HUNIMED and to the lab of @castratakis @NIH where this all started!
Huge thanks to my long-term collaborators Dr. Adrian Daly @CHULiege, Dr. Giampalolo Trivellin @GP_R101 @HUNIMED (👇 picture of our get-together in Seville), our clinical partners worldwide, and most importantly, the patients and their families. @CABD_UPO_CSIC , @BecariosFLC
Scientists Identify the Gene Behind Thorny Roses and Other Prickly Plants - smithsonianmag.com/smart-news/sci… @smithsonianmag
Holidays-encoding gene! 🧬 DNA model ready for teaching next semester at @HUNIMED #DNA #genetics #doublehelix (P.S. encoded message in Italian!)
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