389 Matching Annotations
  1. May 2022
    1. Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder.

      gene name: DICER 1 PMID (PubMed ID): 33570641 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a Family Information: n/a Case: people of all sexes, ages, ethnicities and races participated CasePresentingHPOs: individuals with DICER1-associated tumors or pathogenic germline DICER1 variants were recruited to participate CasePreviousTesting: n/a gnomAD: n/a

    1. DICER1 syndrome is an autosomal-dominant,pleiotropic, tumor-predisposition disorder arisingfrom pathogenic germline variants in DICER1, whichencodes an endoribonuclease integral to processingmicroRNAs

      DICER1 is the gene name. PubMed ID, HGCNCID, and Variant: I can't find Inheritance Pattern: autosomal-dominant The disease entity: DICER1 syndrome The type of mutation: germline. Zygosity: not known. Family Information: a family was used, DICER1 carriers, and non DICER1 variant used, some of the family members had tumors from DICER1 Case Information: mean age is 34, the range of age is 18.6 to 43 years, male, and female used, ethnicity can't find Case Presenting HPO: cancer testing, chemotherapy, radiotherapy gnomeAD: 9.2,8.3.2 Mutation type: Pleiotropic, loss of function, missense

  2. Apr 2022
    1. DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition disorder

      Gene Name:DICER1 PMID: 30715996 HGNCID: Not on document Inheritance Pattern: Autosomal Dominant Disease Entity: Pleiotropic Tumor-Predisposition Disorder Mutation: Pathogenic Germline Variants Zygosity: Not in document Variant: Not in document Family Information: An individual was found who had family members who were also affected by this mutation. Because of this, those family members were also chosen to participate in this study. Mutation Type: Missense Case: The study was done on more than one individual. Roughly more than half of the individuals were female

    1. Mathew, D., Giles, J. R., Baxter, A. E., Oldridge, D. A., Greenplate, A. R., Wu, J. E., Alanio, C., Kuri-Cervantes, L., Pampena, M. B., D’Andrea, K., Manne, S., Chen, Z., Huang, Y. J., Reilly, J. P., Weisman, A. R., Ittner, C. A. G., Kuthuru, O., Dougherty, J., Nzingha, K., … Wherry, E. J. (2020). Deep immune profiling of COVID-19 patients reveals distinct immunotypes with therapeutic implications. Science, 369(6508), eabc8511. https://doi.org/10.1126/science.abc8511

    1. The DICER1 syndrome is an autosomal dominant tumor‐predisposi-tion disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer

      GeneName:DICER1 PMID (PubMed ID): PMCID: PMC6418698 PMID: 30672147 HGNCID: NOT LISTED<br /> Inheritance Pattern: Autosomal Dominant Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma. Mutation: Somatic missense variation Mutation type: missense Zygosity: None stated Variant: unregistered…. Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. CasePresentingHPOs: uterine and rectal cancers in germline mutation

    1. Prof Francois Balloux [@BallouxFrancois]. (2021, December 9). This may have sounded somewhat naïve in early 2020, but by now, I would have expected that anyone with an interest in covid-19 might have acquired some basic notions in infectious disease epidemiology. 1/ [Tweet]. Twitter. https://twitter.com/BallouxFrancois/status/1469063480334561285

    1. Carl T. Bergstrom. (2021, August 18). 1. There has been lots of talk about recent data from Israel that seem to suggest a decline in vaccine efficacy against severe disease due to Delta, waning protection, or both. This may have even been a motivation for Biden’s announcement that the US would be adopting boosters. [Tweet]. @CT_Bergstrom. https://twitter.com/CT_Bergstrom/status/1427767356600688646

    1. Dr Greg Kelly. (2021, July 2). As a pediatrician I’m going on record saying that allowing kids to be freely infected with a novel disease that has unknown long term consequences is the worst idea of 2021 despite being a pretty crowded field so far #COVID19 [Tweet]. @drgregkelly. https://twitter.com/drgregkelly/status/1411083905034117120

  3. Mar 2022
    1. Dr. Deepti Gurdasani. (2022, March 1). New study out yesterday suggesting that vaccine efficacy with current dose for 5-11 yr olds likely wanes quickly. Especially against infection, but also against hospitalisation, although protection against severe disease is higher. Seems to be closely linked to vaccine dose🧵 https://t.co/NojLODF1ED [Tweet]. @dgurdasani1. https://twitter.com/dgurdasani1/status/1498580243665367040

    1. Kerr, P. J., Cattadori, I. M., Liu, J., Sim, D. G., Dodds, J. W., Brooks, J. W., Kennett, M. J., Holmes, E. C., & Read, A. F. (2017). Next step in the ongoing arms race between myxoma virus and wild rabbits in Australia is a novel disease phenotype. Proceedings of the National Academy of Sciences, 114(35), 9397–9402. https://doi.org/10.1073/pnas.1710336114

    1. ReconfigBehSci on Twitter: ‘@STWorg @ProfColinDavis @rpancost @chrisdc77 @syrpis this is the most in depth treatment of the impact of equalities law on pandemic policy that I’ve been able to find- it would seem to underscore that there is a legal need for impact assessments that ask (some) of these questions https://t.co/auiApVC0TW’ / Twitter. (n.d.). Retrieved 22 March 2022, from https://twitter.com/SciBeh/status/1485927221449613314

  4. Feb 2022
    1. Tseng, H. F., Ackerson, B. K., Luo, Y., Sy, L. S., Talarico, C. A., Tian, Y., Bruxvoort, K. J., Tubert, J. E., Florea, A., Ku, J. H., Lee, G. S., Choi, S. K., Takhar, H. S., Aragones, M., & Qian, L. (2022). Effectiveness of mRNA-1273 against SARS-CoV-2 Omicron and Delta variants. Nature Medicine, 1–1. https://doi.org/10.1038/s41591-022-01753-y

    1. Auger, K. A., Shah, S. S., Richardson, T., Hartley, D., Hall, M., Warniment, A., Timmons, K., Bosse, D., Ferris, S. A., Brady, P. W., Schondelmeyer, A. C., & Thomson, J. E. (2020). Association Between Statewide School Closure and COVID-19 Incidence and Mortality in the US. JAMA, 324(9), 859–870. https://doi.org/10.1001/jama.2020.14348

    1. Deepti Gurdasani. (2022, January 10). Lots of people dismissing links between COVID-19 and all-cause diabetes. An association that’s been shown in multiple studies- whether this increase is due to more diabetes or SARS2 precipitating diabetic keto-acidosis allowing these to be diagnosed is not known. A brief look👇 [Tweet]. @dgurdasani1. https://twitter.com/dgurdasani1/status/1480546865812840450

    1. ReconfigBehSci. (2022, January 20). @timcolbourn @OmicronData As I said before, it’s not the function of this account to argue/advocate covid policies, but I will comment on the shape of the argument. The use of the frame “just delay” here seems hugely prejudicial. We don’t talk that way about flu or other diseases we might get repeatedly [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1484074977964011520

  5. Jan 2022
    1. ReconfigBehSci on Twitter: “RT @AliHMokdad: Vaccine effectiveness against BA.1 and BA.2. After 2 doses it was 9% (7-10%) and 13% (-26-40%) respectively for BA.1 and BA…” / Twitter. (n.d.). Retrieved January 30, 2022, from https://twitter.com/SciBeh/status/1487123660771106821

    1. James 💙 Neill - 😷 🇪🇺🇮🇪🇬🇧🔶. (2022, January 23). Of 51,141 deaths due to ischaemic heart diseases 32,872 (64.3%) had pre-existing conditions.💔 Do those 33k heart disease deaths not count? Or is an absence of pre-existing conditions only required for Covid deaths...😡⁉️ Source: ONS England 2019 [Tweet]. @jneill. https://twitter.com/jneill/status/1485327886164844546

  6. Dec 2021
  7. Nov 2021
    1. Cerebrospinal fluid and plasma biomarkers, as well as amyloid imaging markers, can offer information about neuropathological symptoms of AD, when no evidence markers for hippocampal volume loss can be accurately exported from MRI scanning [49]
  8. Oct 2021
    1. Prof. Akiko Iwasaki. (2021, September 23). Thankfully, we have not seen any evidence of antibody-dependent enhancement of infection or disease by any COVID vaccines to date. Vaccine are not making infections worse, and are very effective in preventing disease. [Tweet]. @VirusesImmunity. https://twitter.com/VirusesImmunity/status/1441074260534075392

    1. Magusali, N., Graham, A. C., Piers, T. M., Panichnantakul, P., Yaman, U., Shoai, M., Reynolds, R. H., Botia, J. A., Brookes, K. J., Guetta-Baranes, T., Bellou, E., Bayram, S., Sokolova, D., Ryten, M., Sala Frigerio, C., Escott-Price, V., Morgan, K., Pocock, J. M., Hardy, J., & Salih, D. A. (2021). A genetic link between risk for Alzheimer’s disease and severe COVID-19 outcomes via the OAS1 gene. Brain, awab337. https://doi.org/10.1093/brain/awab337