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Tag: SAMD9
Anti-SAMD9 antibody (AB121664) | Abcam
Abcam is leading the way to address reproducibility in scientific research with our highly validated recombinant monoclonal and recombinant multiclonal antibodies. Search & select one of Abcam’s thousands of recombinant alternatives to eliminate batch-variability and unnecessary animal use. If you do not find a host species to meet your needs,…
KCouper/Liverpool K-means RNAseq Analysis November 2020
R3 VAR14 vs RBC no TNF k-means q0.05 1. Genelist Selection groupsName<-“R3_VAR14_kmeans_q0.05” countsTable<-read.delim(“RNAseq2019July_5.txt”, header = TRUE, sep = “\t”,check.names=FALSE,row.names=1) head(countsTable) AllGeneNames<-countsTable$Gene_Symbol #head(AllGeneNames) tempA<-countsTable topDEgenes <- which(tempA$padj_R3noTNF_var14_vs_RBC_0h<0.05&!is.na(tempA$padj_R3noTNF_var14_vs_RBC_0h))####find indexes listA<-tempA[ topDEgenes, ]$Gene_Symbol topDEgenes <- which(tempA$padj_R3noTNF_var14_vs_RBC_2h<0.05&!is.na(tempA$padj_R3noTNF_var14_vs_RBC_2h))####find indexes listB<-tempA[ topDEgenes, ]$Gene_Symbol topDEgenes <- which(tempA$padj_R3noTNF_var14_vs_RBC_6h<0.05&!is.na(tempA$padj_R3noTNF_var14_vs_RBC_6h))####find indexes listC<-tempA[ topDEgenes, ]$Gene_Symbol topDEgenes <- which(tempA$padj_R3noTNF_var14_vs_RBC_20h<0.05&!is.na(tempA$padj_R3noTNF_var14_vs_RBC_20h))####find indexes listD<-tempA[ topDEgenes,…
Advancing personalized medicine in brain cancer: exploring the role of mRNA vaccines | Journal of Translational Medicine
Personalized medicine aims to revolutionize healthcare by providing tailored treatments based on an individual’s unique characteristics. Genetic information of the host and target plays a crucial role in determining disease susceptibility and treatment response [1, 2]. By utilizing genomic analysis, biomarker identification, risk assessment, tailored treatment strategies, and continuous monitoring,…
Is pediatric SAMD9 germline mutation myelodysplastic syndrome always associated with gain of function mutation?
Pediatric SAMD9 germline mutation myelodysplastic syndrome (MDS) is not always associated with gain-of-function mutations. In fact, the germline SAMD9/9L mutations can be loss-of-function mutations. These mutations have been found in pediatric MDS patients with monosomy 7, a poor prognostic factor. The prevalence of SAMD9/9L mutations in pediatric MDS is around…
Human SAMD9 knockout A549 cell lysate (AB257656)
SAMD9 KO cell lysate available now. KO validated by Western blot. Free of charge wild type control included. Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon2. Advanced Validation Alternative names= C7orf5, DRIF1, KIAA2004, NFTC, OEF1, OEF2, SAM domain-containing protein 9, SAMD9_HUMAN, Sterile alpha motif domain-containing protein 9,…
10/24/2023 M-I Dept. Seminar / SAMD9-Mediated Innate Immunity Against Viruses and Myeloid Tumors
When: Tuesday, October 24, 202312:00 PM – 1:00 PM CT Where: Simpson Querrey Biomedical Research Center, SQ Auditorium, 303 E. Superior Street, Chicago, IL 60611 map it Audience: Faculty/Staff – Post Docs/Docs – Graduate Students Contact: Cynthia Naugles (312) 503-0489 Group: Department of Microbiology-Immunology Seminars/Events Category: Lectures & Meetings Description:…
PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L
Jacob F, Salinas RD, Zhang DY et al (2020) A patient-derived glioblastoma organoid model and biobank recapitulates inter- and intra-tumoral heterogeneity. Cell 180(1):188–204 e122. doi.org/10.1016/j.cell.2019.11.036 Louis DN, Perry A, Wesseling P et al (2021) The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol 23(8):1231–1251….
Team IDs Mechanism Underlying Rare Children’s Blood Cancer
Researchers at The University of Texas Health Science Center at San Antonio (UT Health San Antonio), reporting this week in the journal Proceedings of the National Academy of Sciences, identified a mechanism through which two antiviral genes, when mutated, promote a childhood cancer called pediatric myelodysplastic syndrome (MDS). Scientists at…
A familial SAMD9 variant present in pediatric myelodysplastic syndrome
Cold Spring Harb Mol Case Stud. 2023 Apr; 9(2): a006256. ,1,2 ,1,2 ,1,2 ,2,3 ,4 and 1,2 Mahvish Q. Rahim 1Pediatric Hematology Oncology, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA; 2Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, USA; April Rahrig 1Pediatric Hematology Oncology,…
NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu) AND Inborn genetic diseases – ClinVar
NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu) AND Inborn genetic diseases Based on: 1 submission [Details] Record status: current Accession: RCV002542603.1 Allele description [Variation Report for NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu)] NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu) Gene: SAMD9:sterile alpha motif domain containing 9 [Gene – OMIM – HGNC] Variant type: single nucleotide variant Cytogenetic location: 7q21.2 Genomic location: Preferred name: NM_017654.4(SAMD9):c.3698C>T…
Investigating ultrastructural morphology in… | F1000Research
Introduction MIRAGE syndrome (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital (gonadal) phenotypes, and enteropathy) (OMIM: 617053) is a well-established complex multisystem disorder caused by pathogenic gain-of-function variants in the gene SAMD9.1,2 Changes in this gene were first described in 2016 and to date more than 100 affected individuals have…
Variant #0000803285 (NC_000007.13:g.92730753A>G, SAMD9(NM_017654.3):c.4658T>C) – Global Variome shared LOVD
Variant #0000803285 (NC_000007.13:g.92730753A>G, SAMD9(NM_017654.3):c.4658T>C) Chromosome 7 Allele Unknown Affects function (as reported) Effect unknown Affects function (by curator) Not classified Classification method – Clinical classification VUS DNA change (genomic) (Relative to hg19 / GRCh37) g.92730753A>G DNA change (hg38) – Published as SAMD9(NM_017654.3):c.4658T>C (p.I1553T), SAMD9(NM_017654.4):c.4658T>C (p.I1553T) ISCN – DB-ID SAMD9_000024 See all 3 reported entries Variant remarks VKGL data sharing initiative Nederland Reference – ClinVar ID – dbSNP ID – Origin CLASSIFICATION…
SAMD9
cite web | title = Entrez Gene: SAMD9 sterile alpha motif domain containing 9| url = www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54809| accessdate = ] PBB_Summarysection_title = summary_text = References Further reading PBB_Further_reading citations = *cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with…