#noonansyndrome
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dymaxioncarhouse.bsky.social
#noonanSyndrome
January 3, 2026 at 1:48 AM
rasnet.bsky.social
One prevalent diagnostic symptom of #Noonansyndrome is congenital pulmonary valve stenosis. Work from the Gelb lab advances an iPSC platform for studying valve development and function. #cardiosky 🫀 🧪
#raredisease #rasopathies
haoyin.bsky.social Hao Yin @haoyin.bsky.social · Oct 16
A high-fidelity protocol for #hiPSC-derived Fibrosa vs Spongiosa #ValvularIntersistialCell

Endocardial state +FGF2/BMP4/TGFB2➡️
Fibrosa subset: PRRX2 TIMP3 ITGA2 (most discriminative marker)

Endocardial state +FGF2➡️
Spongiosa subset: LUM APOE

bioRxiv 2025
www.biorxiv.org/content/10.1...
October 16, 2025 at 11:35 PM
toptags.bsky.social
🔥 BlueSky trending hashtags (30m):

#booksky #art #birds #pedsky #gamedev #photography #noonansyndrome #neurosky #mapk #ras #rasopathies #raredisease #indiedev #furry #medsky
November 29, 2025 at 4:00 PM
babyhippo.bsky.social
right now im glad to be a mutant #disabilities #chronicillness #noonansyndrome #DNA #selfcare
February 8, 2025 at 3:49 AM
toptags.bsky.social
🌟 BlueSky trending hashtags (1h):

#booksky #art #gamedev #pedsky #birds #indiedev #photography #raredisease #noonansyndrome #neurosky #mapk #ras #rasopathies #furry #medsky
November 29, 2025 at 4:00 PM
toptags.bsky.social
🚀 BlueSky trending hashtags (15m):

#booksky #art #pedsky #gamedev #noonansyndrome #neurosky #mapk #ras #rasopathies #birds #raredisease #indiedev #photography #furry #furryart
November 29, 2025 at 4:00 PM
rasnet.bsky.social
This is cool! The link from Plexin/Semaphorin to R-RAS signaling raises interesting questions about mechanism of action underlying clinical manifestations of human germline gain of function variants in #Noonansyndrome. (🔼bleeding, 🔼lymphatic dysplasia, CNS 🔼oligod 🔼myelination, muscle hypotonia)
maikbischoff.bsky.social Maik Bischoff @maikbischoff.bsky.social · Jun 20
For today's #FluorescenceFriday I'm thrilled to share that
ScienceAdvances was so nice to pick my picture as this week's featured image!

It's actually a still of a video😊

Check out the paper to learn more
science.org/doi/10.1126/...

#cellbio #devbio #cellmigration #science

Thank you @aaas.org
June 20, 2025 at 6:07 PM
babyhippo.bsky.social
I am Leann live in USA I like #crime cold cases, #baseball, #football #pets domestic #politics my diagnosis is #noonansyndrome mainly #gardening and #marijuana for medical
January 12, 2025 at 5:50 PM
eclinicalmed.bsky.social
📢NEW: September issue now online featuring #NoonanSyndrome, #Stroke, #HIV, #Spondyloarthritis, #Diabetes, #Sepsis, #Asthma, and more with our editorial on the rise of early-onset cancer

…all available #free, #OpenAccess❗️

Read more here: www.thelancet.com/issue/S2589-...

Attribution: Getty
September 23, 2026 at 2:33 PM
toptags.bsky.social
🚀 BlueSky trending hashtags (15m):

#booksky #art #birds #gamedev #furry #photography #raredisease #furryart #mapk #neurosky #ras #rasopathies #noonansyndrome #pixelart #pedsky
November 29, 2025 at 3:45 PM
rasnet.bsky.social
Wondering what genes are linked to #RASopathies and their relative proportion in #Noonansyndrome and #CFCsyndrome?
#raredisease #genetics #pedsky 🧪🧬🩺
pubmed.ncbi.nlm.nih.gov/40207038/
April 12, 2025 at 7:50 PM
rasnet.bsky.social
Multidisciplinary Treatment of Patients With Noonan Syndrome: A Consensus Statement
OCT 2025
🧪🩺🧬#medsky #pedsky #noonansyndrome
jamanetwork.com/journals/jam...
Multidisciplinary Treatment of Patients With Noonan Syndrome
This consensus statement develops recommendations for diagnosis, treatment, and follow-up from childhood through adulthood for patients with Noonan Syndrome.
jamanetwork.com
January 13, 2026 at 5:22 PM
babyhippo.bsky.social
this is my first #1 post here and would like to see others come and lets share our stories ups and downs even resources for those of us who suffer from #noonansyndrome get educated and experiences

#noonansyndrome
#disability
#chronicillness
#education
#medical
#personal
December 31, 2024 at 4:56 PM
rasnet.bsky.social
🧪 #MedSky #Neurosky
Recent research on #noonansyndrome
Yes, there is increased risk for autism spectrum traits if you have syndromes associated with RAS pathway mutations.
rdcu.be/eMNHY
Genotype–phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study | Molecular Autism
rdcu.be
October 26, 2025 at 6:05 PM
rasnet.bsky.social
Vosoritide is also in trials for other short stature conditions like #Noonansyndrome and #Turnersyndrome
Favorable safety profile ✌️
#raredisease
March 24, 2026 at 7:41 PM
katikeil.bsky.social
#noonansyndrome
February 5, 2025 at 4:31 PM
rasnet.bsky.social
🧪🧬
BLOG: LZTR variants are linked to autosomal dominant & recessive forms of #Noonansyndrome #RASopathy
LZTR’s role in regulating RAS signaling via degradation points to disease mechanism & therapeutic possibilities.
#Medsky #oncosky #pedsky #RAS
frederick.cancer.gov/news/exploit...
Exploiting cellular degradation machinery as a potential treatment strategy for RAS-driven cancers | Frederick National Laboratory
Image
frederick.cancer.gov
December 18, 2025 at 2:36 PM
oispooky.bsky.social
The most common rare disorder you've never heard of? Feb is, among other things, #NoonanSyndrome Awareness Month!

It's also my top quality mini nephew Charlie's 5th birthday today 🎂

2024 research shows that families with an NS member have a pressing need for more social support & awareness...
A graphic from the Noonan Syndrome Awareness Month campaign. It says 1 in 2,500 at the top and features six photos of little Charlie, a small blond five year old with glasses riding toys at soft play, at the arcade, eating and dressed as a cop (I do not approve of the latter career choice). IMAGE SHARED WITH PERMISSION OF CHARLIE'S DAD.
February 2, 2025 at 11:44 AM
rasnet.bsky.social
🧪 Wondering whether mavacamten would provide therapeutic benefit for #noonansyndrome #HCM? 👇

🫀Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome–Associated Obstructive Hypertrophic Cardiomyopathy | JACC: Case Reports

#medsky #cardiosky
www.jacc.org/doi/10.1016/...
Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome–Associated Obstructive Hypertrophic Cardiomyopathy:
www.jacc.org
December 6, 2025 at 3:22 PM
rasnet.bsky.social
"I wish more was known about why growth hormone seems to help some kids' pain."
#RASopathies are short stature syndromes and GH is approved for #Noonansyndrome. It helps with pain, weakness, stamina, and growth. Any good science / med reviews on why? 🧪💪🦴
#raredisease #endocrinology #Medsky #Pedsky
January 17, 2025 at 1:47 PM
rasnet.bsky.social
🧪 #medsky Interesting report of clinical 'misdiagnosis', indeed several syndromes look like #noonansyndrome
🧬Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome - Kim - AJMGPart A onlinelibrary.wiley.com/doi/10.1002/...
Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome
Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While var....
onlinelibrary.wiley.com
October 26, 2025 at 5:17 PM
rasnet.bsky.social
February is #Noonansyndrome awareness month AND the month when we recognize #RareDisease Day (Feb 28). We advocate for research and therapeutic progress 💊 for conditions caused by #RAS#MAPK signaling dysfunction. BTW, its not so rare. NS is ~1:2000 people!
🧪🩺🧬 #pedsky #medsky #cardiosky
February is Noonan Syndrome Awareness Month. Noonan syndrome is named for Dr. Jacqueline Noonan, a cardiologist who first recognized and published a paper with nine individuals who had cardiac anomalies, short stature, chest deformities, and pulmonary valve stenosis. More info from Noonan Syndrome Foundation at www.teamnoonan.org
February 3, 2026 at 2:19 AM
rasnet.bsky.social
Thanks for highlighting NSML
#Noonansyndrome with multiple lentigines- a rare RASopathy caused by mutations in PTPN11 (SHP2). Distinct variants from the bulk of typical NS PTPN11 mutations. 🧪🧬
Interesting genotype -phenotype expression in human disease.
#pediatrics
rarectadvocate.com CT Rare Advocate @rarectadvocate.com · May 18
Noonan Syndrome with Multiple Lentigines (NMSL/LEOPARD Syndrome): a rare genetic RASopathy causing skin spots, heart defects, short stature & hearing loss.

Learn more: https://dub.sh/NMSL

You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
May 18, 2026 at 3:14 PM
rasnet.bsky.social
🧪🦴🩺 Any docs out there know what causes long term bone pain, not shin splints, not growing pains, but searing pain in the shin bones and ankles. With normal bloodwork. In adults with #Noonansyndrome #rasopathies
#medsky
November 2, 2025 at 1:10 PM
rasnet.bsky.social
🧪Nice structural work from @Castel @Simanshu groups to understand #RAS GTPase family degradation & consequences of human variants in LZTR-related #Noonansyndrome #RASopathy #raredisease
💠Structural basis for LZTR1 recognition of RAS GTPases for degradation | Science www.science.org/doi/10.1126/...
Structural basis for LZTR1 recognition of RAS GTPases for degradation
The RAS family of small guanosine triphosphatases (GTPases) are tightly regulated signaling molecules that are further modulated by ubiquitination and proteolysis. Leucine Zipper-like Transcription Re...
www.science.org
September 12, 2025 at 8:38 PM