Top Tweets for #GeneVariants
LDLR Gene Variants Linked to Increased ‘Bad’ Cholesterol and Heart Attack Risk
Resource to identify individuals with genetic risk for elevated #LDL may help clinicians predict #heartattack and #stroke risk
@DanTabet @UofT @pitt_medicine
#genevariants
https://t.co/MFaQzZufWE
Brain Development Syndrome Identified by Synapse-Disrupting UNC13A Variants
The study provides the first detailed explanation of how UNC13A #genevariants disrupt #nervecell communication and cause developmental and #neurologicalissues
@asadollahi_re
#ALS
https://t.co/1JwiX6c8V8
Scientists uncover rare gene variants that help people live past 100 🧬🧓🧠 #Genetics #Longevity #IGF1 #Centenarians #HealthyAging #GeneVariants #Lifespan #MolecularBiology #AgingResearch #Genomics @SciReports
Marcy Richardson, PhD, joined us from #CCG2024 to discuss Ambry's poster presentation. Explore how the HBOP VCEP Biocuration Group was able to reduce the VUS rate from 29% to 12% among A-T associated variants. #ATM #genomics #genevariants @ClinGen
@WCRF_UK and @DiabetesUK funded study in the news with our quote from @wcrfint @DrHelenCroker #type2diabetes #cancer #genevariants
Serum neurofilament light chain levels serve as a biomarker for detecting neuronal damage in the presymptomatic stages of hereditary transthyretin amyloid polyneuropathy (ATTR-PN).
📚 Amyloid
Read more: https://t.co/PC7yBSJIiJ
#Transthyretin #GeneVariants #Cardiology
Dr. David Hafler summed his decades of genetic studies to show that MS susceptible individuals have gene variants resulting in lower threshold of activation of immune cells #MultipleSclerosis #gene #genevariants #diseasepredisposition
David giving an excellent talk on cause of MS, who is working on MS from 53 years (longer than I am on this earth)!!
Excited to know that it all started at University of Iowa as @NSF high school summer internship @uiowa @IowaNeurology @UIowaNeuro
Researchers developed a propensity model to assess the risk of developing either wild-type or #HereditaryTransthyretinAmyloidosis-associated #Cardiomyopathy, according to a study published in @PermanenteJ
Read more: https://t.co/JsvMYun9bb
#haTTR #GeneVariants #Cardiology
What can PCSK9 loss-of-function variants tell #clinicians about the effects of #PCSK9 inhibitors on cardiac structure and function? Find out more on PCSK9 Forum >> https://t.co/LmCnwpR4j6
#genevariants #geneticscore #lipids #cholesterol #cardiovasculardisease #UKBiobank #PCSK9i
According to a study published in @IJERPH_MDP occupational therapy can play a central role in the treatment of #HereditaryTransthyretinAmyloidosis.
Read more here: https://t.co/y2hXau29Gy
#hATTR #Transthyretin #TTR #GeneVariants #Cardiology
Researchers at @helsinkiuni and @FolkhalsanRC have identified #genevariants linked to harmful fatty substances in the #blood. In the future, it might prove possible to prevent #cardiovasculardisease by influencing the function of these genes.
https://t.co/1wlkGhoh0q
The #genes of #cytokines and #inflammatory mediators play an important role in the development of chronic obstructive #pulmonary disease #COPD
More "Gene-gene and gene-environment interactions of the inflammatory #geneVariants in the development of COPD"👇
https://t.co/7vWEd59yk9
Dr Marianne AbiFadel provided an update on PCSK9 #genevariants at the 16th Closed Scientific Expert Meeting of PCSK9 Forum Editorial Board, discussing #PCSK9 genetics & future research directions in her Keynote presentation> https://t.co/rNonu13n5V
#womeninscience #cardioTwitter
#GeneTherapy world is progressing rapidly. There are therapies that addresses the full Gene but others suits only specific variants.
This video simply explains the #GeneVariants differences.
#Nonsense #Missense #FrameShift #Splicing #StopCodon
https://t.co/K27O3hV0cJ
Did you know our Predictiv Digital Twin offers a full list of your gene's variants!? Order your kit now to see your variants https://t.co/JCytGSORu7
#DNA #DNAvariants #genevariants #variant #genes #digitaltwin
A video by @SPHN_ch/@ISBSIB about the Swiss Variant Interpretation Platform (for Oncology): @SVIPdb
https://t.co/LfTSIX1xrB
#genevariants #clinicalinformatics #medicalinformatics #biomedicalinformatics #bioinformatics #genetics #clinicalcollaboration #medicaltechnology #medtech
A new test can determine the clinical importance of many #BRCA2 #variants of uncertain significance. @AJHGNews #BreastCancer #OvarianCancer #DNASequencing #GeneVariants #Genetics #WomensHealth #InternationalWomensDay #internationalwomensday2021 #InternationalWomenDay
"We found that 86% of the VUS we studied were reclassified as #benign or #pathogenic, which is a major step forward from the 10% or so missense #variants in the #DNA binding domain that have previously been classified," —Dr. Couch /@FergusCouch #BRCA2 https://t.co/OKTYW3CCOy
A study on Addison's disease reveals that variants of nine genes increase the risk of developing the disease in which the immune system starts attacking the adrenal glands https://t.co/SkaKxT20qR
#genevariants #genetics #shivom #DNA #immunesystem #humangenomes
The role of polygenic risk and susceptibility genes in breast cancer over the course of life
#Polygenic #BreastCancer
More from #DHPSP, INPST, and CRBIOTECH: https://t.co/bnyRkMvCcN
https://t.co/nXccwq4qaq
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