Top Tweets for #Smad4
#SMAD4 mutation + refractory anemia? Think beyond #iron 👀
Lorusso et al: 10yo with #HHT→diffuse GI #polyps + early dysplasia. Earlier scopes = ⬇️ surgeries, 👍 outcomes
#Genetics + #endoscopy +multiD care 🔑
#PedsGI #MedTwitter #RareDisease
More: https://t.co/NOooS9jurq

New in @Vessel_Plus 🚀
SMAD4 loss drives distinct vulnerabilities across pulmonary endothelial subtypes
🧬 scRNA-seq reveals:
• Venous/gCap fragility
• aCap dysfunction
• Subtype-specific networks
🔗 https://t.co/QA6wzocDJg
#scRNAseq #Endothelium #SMAD4 #VascularBiology

Epigenetics Update - SMAD4 induces opposite effects on metastatic growth from pancreatic tumors depending on the organ of residence https://t.co/9AkVqIXzWs
#Epigenetics #Cancer #Metastasis #SMAD4
---
Discover the breakthrough at https://t.co/WmSYDGXnzb

Letter to Editor✍️#SMAD4 #depletion enhances #NHEJ by regulating #BRCA1 expression through #ARIH1 in #pancreatic #cancer. From Dr. Wang @FudanUniversity; @FudanUni; @ELSpharma.
https://t.co/GEpzJKYLDd.

🔬 New discovery in #NAFLD research! 🔍
👉#Smad4 deficiency reduces liver fat accumulation
🛑Decreases #inflammatory cell infiltration
🔄Suppresses ASK1/P38/JNK signaling pathway
🚫Inhibits #CXCL1 secretion
🎯A promising target for anti-NAFLD therapy🧬
https://t.co/bF2dqxOl52

#MyhreSyndrome in Adulthood
#SMAD4
N=24
9x R496C
14x I500 variants
1x unknown?
Genotype-Phenotype associations
6 with progressive arterial (incld. Thoracic/Abdominal Aorta) stenosis
9 with cardiac diseases
Face2Gene - #FacialGenotyping
https://t.co/U057SO4d6M
Use AI to recognize facial traits of genetic diseases
@EvaVanbelleghem @CallewaertBert @ejhg_journal 2024 @MarkELindsay @MyhreSyndrome
https://t.co/FwUsxPx80Q

Nature history & phenotype-genotype associations of #MyhreSyndrome #SMAD4
47 case
Aortic Hypoplasia (Z<-2.0) 60% penetrance (because of simultaneous suppression of TGFβ+BMP?)
Renal artery stenosis 13%
+ Cerebrovascular abnormalities
Love to see the Myhre aortic histology🤓
Am J Med Genet A 2024 @MassGeneralNews @MarkELindsay
https://t.co/SfRmVSONFC

🎉 New Pre-print Alert! 🚀 Exciting news from @BiffiGiulia lab authored by @eloise_g_lloyd et al 🥳 Dive into their latest work on #KRAS #SMAD4 #PDAC & the #TME. 🧬💡 Don't miss out on this fascinating read: https://t.co/nDKoGTwpwc #CRUKCamPancCan 📚🔬 @CRUKCamCentre
🚨 Pre-print alert 🚨
Congrats to @eloise_g_lloyd and the whole lab!Very proud of you all and this beautiful (yes I’m biased) work.
Interested in #KRAS #SMAD4 #PDAC or the #TME?
👇🏼
https://t.co/PecV2dyrPk
Hope you enjoy the read as much as we enjoyed working on it!

#Cardiac #neuralcrest cells (#NCC) give rise to vascular smooth muscle cells (#vSMCs) and remodels the #pharyngeal arch #arteries into the #aortic arch and its arteries (#AAAs). Learn how #SMAD4 and developmental #plasticity governs AAA #morphogenesis https://t.co/FJtJilP5No

$100,000 in Funding for Myhre Syndrome Research Projects.
- Basic Research to Uncover Cellular Mechanisms
- Creating Human Cell Lines for Drug Discovery and Therapeutic Development
- Identifying and Testing Potential Therapies
Contact us at [email protected]
#SMAD4

Interested in #connectivetissue #fibrosis #rarediease #smad4? Join us on October 14th for the latest updates from Myhre syndrome experts. https://t.co/ZnN2QdsCLQ

🔬 Cutting-edge research at #DRIVEMeeting! 🚀 User project spotlight: Maria J. Macias from @IRBBarcelona presents "Targeting SMAD4 Protein with Small Molecules." Let's explore new horizons in drug discovery:https://t.co/s4J0fw0NUn🌟 #Innovation #DrugDiscovery #SMAD4

The molecular tumor board presents a case-based review of the tumor suppressing gene SMAD4. Read here: https://t.co/sHO6VVG3ja
#CRST #SMAD4 #tumorboard #Cancer #CancerResearch #oncology #oncologists

Genetic cancer girl over here… know your family history= saving lives!! #knowitdcreenitbeatit #jps #fap #smad4 #bmpr1a @FightCRC @TheColonClub
Common questions we get asked:
➡️ What are the #coloncancer risk factors?
➡️ How do you get #colorectalcancer?
➡️ Who is at high risk?
It’s important to realize there are some circumstances that you can control and others you can’t. 👉 https://t.co/D3umHfr0OL

#SMAD4 alterations were associated with ⬆️metastasis &⬇️of reaching surgical resection during neoadjuvant FOLFIRINOX but not gemcitabine/nab-paclitaxel. SMAD4 could potentially serve as a genomic biomarker to guide tx selection in #pancreaticCancer #pancsm
https://t.co/sXDGeAFJvQ

📢 Abstract available now from the @AACR Special Conference on #PancreaticCancer
@eloise_g_lloyd @BiffiGiulia @GianlucaMuccio1 @Munta04 @Judhelle
👉 read more https://t.co/uVLV1stXIv 👈
#Smad4 #organoids #TME #PDAC #CAFs #CancerResearch #WPCM
@CRUKCamCentre
Article✍️#Cardiac #fibroblast heat shock protein 47 aggravates cardiac fibrosis post myocardial #ischemia–reperfusion injury by encouraging #ubiquitin specific peptidase 10 dependent #Smad4 deubiquitination.
https://t.co/CwhB6pFmwp

I really hope to find fellow #RareDisease zebras with #SMAD4 or #POLD1 #gene #mutations. Is anybody out there? #chronicillness #jps #hht #connectivetissuedisorder
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