Anti-DCLRE1B-Antibody Pack Size

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TECHNICAL DATA SHEET Cat No: Kab02267 Product Particulars: anti-DCLRE1B-antibody Pack Size: 100μg Pack Size: Pack Size: 100μg Purify: Immunogen affinity purified Host: Rabbit Isotype: IgG Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3 , -20Ԩ for 24 months (Avoid repeated freeze / thaw cycles.) Background (Function): 5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end- joining (NHEJ)- mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that activates the DNA repair pathways. Together with TERF2, required to protect telomeres from replicative damage during replication by controlling the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Also involved in response to DNA damage: plays a role in response to DNA interstrand cross- links (ICLs) by facilitating double-strand break formation. In case of spindle stress, involved in prophase checkpoint. Immunogen: DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) Synonyms: SNM1B Calculated MW: Uniprot ID: Q9H816 Specificity: Human, Mouse ,Rat Tested Application: ELISA,WB Recommended Dilution: Gene ID: 64858 Gene Location: Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE" OUR KINESISDX COMMITMENT : GUARANTEED QUALITY WITH EXPERT TECHNICAL SUPPORT .

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Anti-TERF2 / Trf2 Antibody (ARG59099)
Product datasheet [email protected] ARG59099 Package: 50 μg anti-TERF2 / Trf2 antibody Store at: -20°C Summary Product Description Rabbit Polyclonal antibody recognizes TERF2 / Trf2 Tested Reactivity Hu, Rat Tested Application IHC-P, WB Host Rabbit Clonality Polyclonal Isotype IgG Target Name TERF2 / Trf2 Antigen Species Human Immunogen Recombinant protein corresponding to A81-K287 of Human TERF2 / Trf2. Conjugation Un-conjugated Alternate Names Telomeric DNA-binding protein; TRF2; TTAGGG repeat-binding factor 2; TRBF2; Telomeric repeat- binding factor 2 Application Instructions Application table Application Dilution IHC-P 0.5 - 1 µg/ml WB 0.1 - 0.5 µg/ml Application Note IHC-P: Antigen Retrieval: By heat mediation. * The dilutions indicate recommended starting dilutions and the optimal dilutions or concentrations should be determined by the scientist. Calculated Mw 60 kDa Properties Form Liquid Purification Affinity purification with immunogen. Buffer 0.9% NaCl, 0.2% Na2HPO4, 0.05% Sodium azide and 5% BSA. Preservative 0.05% Sodium azide Stabilizer 5% BSA Concentration 0.5 mg/ml Storage instruction For continuous use, store undiluted antibody at 2-8°C for up to a week. For long-term storage, aliquot and store at -20°C or below. Storage in frost free freezers is not recommended. Avoid repeated freeze/thaw cycles. Suggest spin the vial prior to opening. The antibody solution should be gently mixed before use. www.arigobio.com 1/3 Note For laboratory research only, not for drug, diagnostic or other use. Bioinformation Gene Symbol TERF2 Gene Full Name telomeric repeat binding factor 2 Background This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex.
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Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways
biomolecules Article Whole Genome Sequencing of Familial Non-Medullary Thyroid Cancer Identifies Germline Alterations in MAPK/ERK and PI3K/AKT Signaling Pathways Aayushi Srivastava 1,2,3,4 , Abhishek Kumar 1,5,6 , Sara Giangiobbe 1, Elena Bonora 7, Kari Hemminki 1, Asta Försti 1,2,3 and Obul Reddy Bandapalli 1,2,3,* 1 Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), D-69120 Heidelberg, Germany; [email protected] (A.S.); [email protected] (A.K.); [email protected] (S.G.); [email protected] (K.H.); [email protected] (A.F.) 2 Hopp Children’s Cancer Center (KiTZ), D-69120 Heidelberg, Germany 3 Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), D-69120 Heidelberg, Germany 4 Medical Faculty, Heidelberg University, D-69120 Heidelberg, Germany 5 Institute of Bioinformatics, International Technology Park, Bangalore 560066, India 6 Manipal Academy of Higher Education (MAHE), Manipal, Karnataka 576104, India 7 S.Orsola-Malphigi Hospital, Unit of Medical Genetics, 40138 Bologna, Italy; [email protected] * Correspondence: [email protected]; Tel.: +49-6221-42-1709 Received: 29 August 2019; Accepted: 10 October 2019; Published: 13 October 2019 Abstract: Evidence of familial inheritance in non-medullary thyroid cancer (NMTC) has accumulated over the last few decades. However, known variants account for a very small percentage of the genetic burden. Here, we focused on the identification of common pathways and networks enriched in NMTC families to better understand its pathogenesis with the final aim of identifying one novel high/moderate-penetrance germline predisposition variant segregating with the disease in each studied family.
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SUPPLEMENTARY APPENDIX a Homozygous Missense Variant in UBE2T Is Associated with a Mild Fanconi Anemia Phenotype
SUPPLEMENTARY APPENDIX A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype Laura Schultz-Rogers, 1* Francis P. Lach, 2* Kimberly A. Rickman, 2 Alejandro Ferrer, 1 Abhishek A. Mangaonkar, 3 Tanya L. Schwab, 4 Christo - pher T. Schmitz, 4 Karl J. Clark, 4 Nikita R. Dsouza, 5 Michael T. Zimmermann, 5,6 Mark Litzow, 3 Nicole Jacobi, 7 Eric W. Klee, 1,8 Agata Smogorzewska 2# and Mrinal M. Patnaik 3# 1Center for Individualized Medicine, Mayo Clinic, Rochester, MN; 2Laboratory of Genome Maintenance, The Rockefeller University, New York, NY; 3De - partment of Hematology, Mayo Clinic, Rochester, MN; 4Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN; 5Bioinformatics Re - search and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI; 6Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI; 7Department of Hematology Oncology, Hennepin County Medical Center, Min - neapolis, MN and 8Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA *LS-R and FPL contributed equally as co-first authors. #EWK, AS and MMP contributed equally as co-senior authors. Correspondence: MRINAL PATNAIK - [email protected] AGATA SMOGORZEWSKA - [email protected] doi:10.3324/haematol.2020.259275 Supplemental Information Homozygous missense variant in UBE2T is associated with mild Fanconi anemia phenotype Laura Schultz-Rogers1*, Francis P. Lach2*, Kimberly A. Rickman2, Alejandro Ferrer1,
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Differential Expression Profile Analysis of DNA Damage Repair Genes in CD133+/CD133‑ Colorectal Cancer Cells
ONCOLOGY LETTERS 14: 2359-2368, 2017 Differential expression profile analysis of DNA damage repair genes in CD133+/CD133‑ colorectal cancer cells YUHONG LU1*, XIN ZHOU2*, QINGLIANG ZENG2, DAISHUN LIU3 and CHANGWU YUE3 1College of Basic Medicine, Zunyi Medical University, Zunyi; 2Deparment of Gastroenterological Surgery, Affiliated Hospital of Zunyi Medical University, Zunyi;3 Zunyi Key Laboratory of Genetic Diagnosis and Targeted Drug Therapy, The First People's Hospital of Zunyi, Zunyi, Guizhou 563003, P.R. China Received July 20, 2015; Accepted January 6, 2017 DOI: 10.3892/ol.2017.6415 Abstract. The present study examined differential expression cells. By contrast, 6 genes were downregulated and none levels of DNA damage repair genes in COLO 205 colorectal were upregulated in the CD133+ cells compared with the cancer cells, with the aim of identifying novel biomarkers for COLO 205 cells. These findings suggest that CD133+ cells the molecular diagnosis and treatment of colorectal cancer. may possess the same DNA repair capacity as COLO 205 COLO 205-derived cell spheres were cultured in serum-free cells. Heterogeneity in the expression profile of DNA damage medium supplemented with cell factors, and CD133+/CD133- repair genes was observed in COLO 205 cells, and COLO cells were subsequently sorted using an indirect CD133 205-derived CD133- cells and CD133+ cells may therefore microbead kit. In vitro differentiation and tumorigenicity assays provide a reference for molecular diagnosis, therapeutic target in BABA/c nude mice were performed to determine whether selection and determination of the treatment and prognosis for the CD133+ cells also possessed stem cell characteristics, in colorectal cancer.
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Anti-TERF2 / Trf2 Antibody (ARG59098)
Product datasheet [email protected] ARG59098 Package: 100 μl anti-TERF2 / Trf2 antibody Store at: -20°C Summary Product Description Rabbit Polyclonal antibody recognizes TERF2 / Trf2 Tested Reactivity Hu, Ms Tested Application WB Host Rabbit Clonality Polyclonal Isotype IgG Target Name TERF2 / Trf2 Antigen Species Human Immunogen Recombinant protein of Human TERF2 / Trf2. Conjugation Un-conjugated Alternate Names Telomeric DNA-binding protein; TRF2; TTAGGG repeat-binding factor 2; TRBF2; Telomeric repeat- binding factor 2 Application Instructions Application table Application Dilution WB 1:500 - 1:2000 Application Note * The dilutions indicate recommended starting dilutions and the optimal dilutions or concentrations should be determined by the scientist. Positive Control Jurkat Calculated Mw 60 kDa Observed Size 70kDa Properties Form Liquid Purification Affinity purified. Buffer PBS (pH 7.3), 0.02% Sodium azide and 50% Glycerol. Preservative 0.02% Sodium azide Stabilizer 50% Glycerol Storage instruction For continuous use, store undiluted antibody at 2-8°C for up to a week. For long-term storage, aliquot and store at -20°C. Storage in frost free freezers is not recommended. Avoid repeated freeze/thaw cycles. Suggest spin the vial prior to opening. The antibody solution should be gently mixed before use. Note For laboratory research only, not for drug, diagnostic or other use. www.arigobio.com 1/2 Bioinformation Gene Symbol TERF2 Gene Full Name telomeric repeat binding factor 2 Background This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres.
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(12) United States Patent (10) Patent No.: US 9,677,067 B2 Toro Et Al
USOO9677067B2 (12) United States Patent (10) Patent No.: US 9,677,067 B2 Toro et al. (45) Date of Patent: Jun. 13, 2017 (54) COMPOSITIONS AND METHODS FOR (58) Field of Classification Search SYNTHETIC GENE ASSEMBLY None See application file for complete search history. (71) Applicant: TWIST BIOSCIENCE CORPORATION, San Francisco, CA (US) (56) References Cited (72) Inventors: Esteban Toro, Fremont, CA (US); U.S. PATENT DOCUMENTS Sebastian Treusch, San Francisco, CA 3,549,368 A 12/1970 Robert et al. (US): Siyuan Chen, San Mateo, CA 3,920,714 A 11, 1975 Streck (US); Cheng-Hsien Wu, Burlingame, 4,123,661 A 10, 1978 Wolf et al. 4.415,732 A 11/1983 Caruthers et al. CA (US) 4,613,398 A 9/1986 Chiong et al. (73) Assignee: TWIST BIOSCIENCE 4,726,877 A 2/1988 Fryd et al. CORPORATION, San Francisco, CA (Continued) (US) FOREIGN PATENT DOCUMENTS (*) Notice: Subject to any disclaimer, the term of this EP OO90789 A1 10, 1983 patent is extended or adjusted under 35 EP O126621 B1 8, 1990 U.S.C. 154(b) by 0 days. (Continued) (21) Appl. No.: 15/154.879 OTHER PUBLICATIONS (22) Filed: May 13, 2016 Abudayyeh et al., C2c2 is a single-component programmable RNA guided RNA-targeting CRISPR effector. Science, available on line, (65) Prior Publication Data Jun. 13, 2016, at: http://zlab.mit.edu/assets/reprints Abudayyeh US 2016/0264958 A1 Sep. 15, 2016 OO Science 2016.pdf, 17 pages. (Continued) Related U.S. Application Data (63) Continuation of application No. Primary Examiner — Kaijiang Zhang PCT/US2016/016636, filed on Feb.
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Jnsclcase20102 1..5
J Neurosurg Case Lessons 1(3):CASE20102, 2021 DOI: 10.3171/CASE20102 Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case Sarut Chaisrisawadisuk, MD, FRCST,1,4 Nithiwat Vatanavicharn, MD,2 Verayuth Praphanphoj, MD,3 Peter J. Anderson, DSc, FRACS,4,5 and Mark H. Moore, MBChB, FRACS4 1Division of Plastic Surgery, Department of Surgery, and 2Division of Medical Genetics, Department of Paediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; 3Medical Genetics Center, Sai Mai District, Bangkok, Thailand; 4Cleft and Craniofacial South Australia, Women’s and Children’s Hospital, North Adelaide, South Australia, Australia; and 5Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia BACKGROUND Squamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found. OBSERVATIONS The authors report a case of a girl who presented with an abnormal head shape and bilateral squamosal synostosis. Genetic testing revealed a chromosome 1p12–1p13.3 deletion. She has been managed with conservative treatment of the synostosis. She has global developmental delay and multiple anomalies due to the chromosome abnormality. LESSONS Isolated squamosal suture synostosis could be an uncommon feature of chromosome 1p12–1p13.3 deletion. https://thejns.org/doi/abs/10.3171/CASE20102 KEYWORDS cranial sutures; craniosynostosis; chromosome 1p12–1p13.3 deletion The squamosal suture, one of the minor sutures of the human revealed chromosome 46,XX. She was born at 38 weeks of gestation. calvaria, sits between the temporal and parietal bones and extends Her physical examination at 1 year of age showed a widening of both from the pterion, curving around the temporal squama.1 The suture is parietal bones and an open anterior fontanelle.
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Homozygous Missense Variant in UBE2T Is Associated with Mild Fanconi Anemia Phenotype by Laura Schultz-Rogers, Francis P
Published Ahead of Print on July 9, 2020, as doi:10.3324/haematol.2020.259275. Copyright 2020 Ferrata Storti Foundation. Homozygous missense variant in UBE2T is associated with mild Fanconi anemia phenotype by Laura Schultz-Rogers, Francis P. Lach, Kimberly A. Rickman, Alejandro Ferrer, Abhishek A. Mangaonkar, Tanya L. Schwab, Christopher T. Schmitz, Karl J. Clark, Nikita R. Dsouza, Michael T. Zimmermann, Mark Litzow, Nicole Jacobi, Eric W. Klee, Agata Smogorzewska, and Mrinal M. Patnaik Haematologica 2020 [Epub ahead of print] Citation: Laura Schultz-Rogers, Francis P. Lach, Kimberly A. Rickman, Alejandro Ferrer, Abhishek A. Mangaonkar, Tanya L. Schwab, Christopher T. Schmitz, Karl J. Clark, Nikita R. Dsouza, Michael T. Zimmermann, Mark Litzow, Nicole Jacobi, Eric W. Klee, Agata Smogorzewska, and Mrinal M. Patnaik. Homozygous missense variant in UBE2T is associated with mild Fanconi anemia phenotype. Haematologica. 2020; 105:xxx doi:10.3324/haematol.2020259275 Publisher's Disclaimer. E-publishing ahead of print is increasingly important for the rapid dissemination of science. Haematologica is, therefore, E-publishing PDF files of an early version of manuscripts that have completed a regular peer review and have been accepted for publication. E-publishing of this PDF file has been approved by the authors. After having E-published Ahead of Print, manuscripts will then undergo technical and English editing, typesetting, proof correction and be presented for the authors' final approval; the final version of the manuscript will then appear in print on a regular issue of the journal. All legal disclaimers that apply to the journal also pertain to this production process. LETTER TO THE EDITOR Homozygous missense variant in UBE2T is associated with mild Fanconi anemia phenotype Laura Schultz-Rogers1*, Francis P.
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Differential Mechanisms of Tolerance to Extreme Environmental
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Cell Cycle Arrest Through Indirect Transcriptional Repression by P53: I Have a DREAM
Cell Death and Differentiation (2018) 25, 114–132 Ofﬁcial journal of the Cell Death Differentiation Association OPEN www.nature.com/cdd Review Cell cycle arrest through indirect transcriptional repression by p53: I have a DREAM Kurt Engeland1 Activation of the p53 tumor suppressor can lead to cell cycle arrest. The key mechanism of p53-mediated arrest is transcriptional downregulation of many cell cycle genes. In recent years it has become evident that p53-dependent repression is controlled by the p53–p21–DREAM–E2F/CHR pathway (p53–DREAM pathway). DREAM is a transcriptional repressor that binds to E2F or CHR promoter sites. Gene regulation and deregulation by DREAM shares many mechanistic characteristics with the retinoblastoma pRB tumor suppressor that acts through E2F elements. However, because of its binding to E2F and CHR elements, DREAM regulates a larger set of target genes leading to regulatory functions distinct from pRB/E2F. The p53–DREAM pathway controls more than 250 mostly cell cycle-associated genes. The functional spectrum of these pathway targets spans from the G1 phase to the end of mitosis. Consequently, through downregulating the expression of gene products which are essential for progression through the cell cycle, the p53–DREAM pathway participates in the control of all checkpoints from DNA synthesis to cytokinesis including G1/S, G2/M and spindle assembly checkpoints. Therefore, defects in the p53–DREAM pathway contribute to a general loss of checkpoint control. Furthermore, deregulation of DREAM target genes promotes chromosomal instability and aneuploidy of cancer cells. Also, DREAM regulation is abrogated by the human papilloma virus HPV E7 protein linking the p53–DREAM pathway to carcinogenesis by HPV.Another feature of the pathway is that it downregulates many genes involved in DNA repair and telomere maintenance as well as Fanconi anemia.
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Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1P13.2 Region JOSE-EZEQUIEL MARTÍN, BEHROOZ Z
Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1p13.2 Region JOSE-EZEQUIEL MARTÍN, BEHROOZ Z. ALIZADEH, MIGUEL A. GONZÁLEZ-GAY, ALEJANDRO BALSA, DORA PASCUAL-SALCEDO, MARÍA F. GONZÁLEZ-ESCRIBANO, LUIS RODRIGUEZ-RODRIGUEZ, BENJAMÍN FERNÁNDEZ-GUTIÉRREZ, ENRIQUE RAYA, MARIEKE J.H. COENEN, PIET van RIEL, TIMOTHY R.D.J. RADSTAKE, TORE K. KVIEN, MARTE K. VIKEN, BENEDICTE A. LIE, BOBBY P.C. KOELEMAN, and JAVIER MARTÍN ABSTRACT. Objective. The PTPN22 rs2476601 genetic variant has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. Some reports suggest that this single-nucleotide polymorphism (SNP) may not be the only causal variant in the region of PTPN22. Our aim was to identify new independent RA-associated common gene variants in the PTPN22 region. Methods. We analyzed Wellcome Trust Case-Control Consortium genome-wide association study data for associations in the 397.2 kb PTPN22 region and selected 9 associated SNP (with p < 5 × 10–3) for replication and dependence analysis. The replication cohorts comprised 2857 patients with RA and 2994 controls from Spain, Netherlands, and Norway. Results. We found that 6 of the 9 selected SNP were associated in the Spanish cohort. Of these, 4 were also associated in the Dutch and Norwegian cohorts, and all 6 were associated with RA in the combined analysis. Conditional analyses showed that none of these associations was independent of rs2476601. Conclusion. The SNP rs2476601 located in the PTPN22 gene is the sole common genetic variant asso- ciated with RA in the 1p13.2 region, suggesting that neighbor genes of PTPN22 do not have a major influence in RA.
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