Top Tweets for #somaticmutation
📢New Open🔓 Access Article
Mitochondrial DNA copy number associated dementia risk by somatic mutations and frailty by Qu Tian & Luigi Ferrucci (@Ferruccilu) et al.
https://t.co/N9C5fBw6bg
#mitochondria #dnacopynumber #humanblood #dementia #frailty #somaticmutation
Check out this skin color #chimera in Dark Red Norland that CLH found
#SomaticMutation OR #EpigeneticChange ?
#MetaplasticBreaseCancer #Proteomics
15 MpBC (6x Spindle 4x Squamous 5x Chondroid) vs 6 TNBC vs 6 normal
Proteomic Hallmark signatures
MpBC: ⏫EMT ⏬OxPhos
Spindle: MYC/E2F/Ribosome
Squamous: IFNγ/p53/PI3K/Apical junction
Chondroid: EMT OxPhos
WES #SomaticMutation
MpBC: TP53 MUC17 PLEC CRYBG2 ZNF681
Spindle-Squamous: AHNAK AHNAK2 ODF1 CSMD1 RBMXL3
Spindle-Chondroid: TTN (Titin!🧐) PPIP5K2 MAF
Squamous-Chondroid: GLG1 SPTBN1
Spindle: PIK3C2A CPT1B ATXN3 USH2A PAH TEX14
Squamous: PIK3CA PTEN MTOR NOTCH3
Chondroid: CDH7 MAP3K2 FAT1
An important dataset to be overlaid onto Single-cell or Spatial Omics data
@djomehri @nesvilab @CelinaKleer @NatureComms 2020
https://t.co/RtLTeTyXlL
Congratulations to everyone involved for their valuable contributions @ksmorillo @zinan_zhou @bsappleby @ChrisAWalsh1 @tuihuaorjinhua @M_B_Miller
#Prion #CJD #SomaticMutation #PRNP #Genetics (2/2)
[オミクス基礎知識]新しいコンテンツを投稿しました。 ご関心のある方は是非ご覧ください。
◎Germline mutation（生殖細胞系列遺伝子変異）とSomatic mutation（体細胞遺伝子変異）との違い
https://t.co/Rl56m4r3qG
#Germlinemutation #生殖細胞系列遺伝子変異 #Somaticmutation #体細胞遺伝子変異
Capillary malformations
A very nice reivew😋
GNAQ/Gαq activating variants
#somaticMutation VAF 1~33%
GNB2/Gβ
"CM vessels are characterized by multiple layers of pericytes"😍
Gαq-DREADD🐭
#SturgeWeberSyndrome #SWS @SturgeWeber
Not only skin lesion but also brain cortical calcification
"calcium deposits were mostly in the vessel wall of cortical capillaries and small venules"
MicroVascular Calcification!😎
Targeting mTOR/MEK/Gαq/CRAC channel
@BoscoloLab @jclinicalinvest 2024
https://t.co/GrlW5vwtMu
📢New Review in GeroScience by Springer Nature
Somatic mutations in aging and disease by Peijun Ren, Jie Zhang & Jan Vijg.
#somaticmutation #singlecellgenomesequencing #singlemoleculesequencing #aging #Cancers
https://t.co/zWogih6wDQ
STmut
Inferring+Visualizing #SomaticMutation #CopyNumberVariation Germline SNP/#AllelicImbalance in Tumor #SpatialTranscriptomics
#SomaticMutation SNP
Frozen #Visium (sequencing-based ST needed) matched DNAseq needed
CNV: Also work with FFPE #Visium
matched DNAseq not required
@ShainLab @GenomeBiology 2023
https://t.co/widKJJ6Pl6
🧬Rare Disease Spotlight:Melorheostosis🧬A developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. The condition begins in childhood and is characterized by thickening of the bones. #Somaticmutation
Investigation of somatic mutation profiles and tumor evolution of primary oropharyngeal cancer and sequential lymph node metastases using multiregional whole-exome sequencing
👉https://t.co/wogYJ9MNeK
#SomaticMutation #TumorEvolution #CDKN2A #LymphNodeMetastasis #Camets #OPSCC
Congratulations to Nicole Rockweiler @nonfiniteloop for a very nice talk today on her work studying somatic (postzygotic) mutations in bulk RNA-seq GTEx data! #somaticmutation
https://t.co/MCbiwOiBXV
📣 #EditorsChoice! This #OA review outlines current clonal outgrowth knowledge, its relation to health and aging, and how in the framework of DNA repair deficiencies these subjects are consolidated.
Read more: https://t.co/VujredP57h
#ClonalExpansion #SomaticMutation
Masked Somatic Mutation data from the GDC release 34 are now available in #BigQuery! Discover the new data with our BigQuery Table Search at https://t.co/mgveHHRpFL by filtering data type by SOMATIC MUTATION. #CancerResearch #NCIGDC #somaticmutation
🎆 OUT TODAY @NatureGenet
📰 APOBEC mutagenesis is a common process in normal human small intestine
👫 Michael R. Stratton @_YichenWang_ and team @sangerinstitute
👇🏿
https://t.co/ibR09ZwCmd
#somaticmutation #APOBEC
#SomaticMutation in #CerebralAneurysm
SVIL/Supervillin, a actin-membrane linker, suppresses KLF4, PDGF (autocrine!🥸), LIMK activity to maintain #SmoothMuscleCell contractile phenotype
An SVIL-EP300 axis!?🤓
Dr. Rose Du lab Neurol Genet 2022
https://t.co/YqR7GzAXfZ
@JonnaClancy @Veripalvelu collaborating with researchers @HelsinkiUniMed: "High prevalence of low-allele-fraction somatic mutations in STAT3 in peripheral blood CD8+ cells in multiple sclerosis patients and controls." https://t.co/svujPlEeKZ #SomaticMutation #MultipleSclerosis
The CCG has platforms to assist researchers in both #genome-wide and #gene-focused efforts using #NGS to characterize #tumors at the genomic (#genotyping, #somaticmutation detection, copy number analysis), #transcriptomic (#singlecell and... @DanaFarber https://t.co/r2NKOoJctH
The intriguing #SomaticMutation data in mouse #Atherosclerosis (promisingly implicated for human data)
Also do not miss the really insightful Discussion😆
PIK3CA #SomaticMutation #CerebralCavernousMalformation
Somatic mutations (snDNAseq) 51 sporadic CCM->
Mutual exclusivity of CCMs LOF vs MAP3K3 GOF mutations
But either can concur with PIK3CA GOF
Dr. Issam Awad & Douglas Marchuk labs @NatureCVR 2022
https://t.co/Y6DgrCNPvR
This is a great opportunity! Unique and excellent place to build your skills, with our collaborator @peter_j_park. #somaticmutation #genomics
The Park lab is looking for a recent college grad to work as scientific programmer/RA, who will help with projects in the lab as well as doing independent research. Last 5 people in this role: 4 went onto PhD programs at Harvard (3) and MIT (1), 1 to Google. Send CV to me.
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