138 Matching Annotations
  1. Aug 2022
    1. Meng, B., Abdullahi, A., Ferreira, I. A. T. M., Goonawardane, N., Saito, A., Kimura, I., Yamasoba, D., Gerber, P. P., Fatihi, S., Rathore, S., Zepeda, S. K., Papa, G., Kemp, S. A., Ikeda, T., Toyoda, M., Tan, T. S., Kuramochi, J., Mitsunaga, S., Ueno, T., … Gupta, R. K. (2022). Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity. Nature, 1–1. https://doi.org/10.1038/s41586-022-04474-x

    1. ReconfigBehSci. (2021, December 12). RT @ryan_landay: > A new diverse genome has appeared within the B.1.1.529 lineage that has all of the shared mutations of B.1.1.529, some o… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1470066521615605766

  2. May 2022
    1. DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1

      GeneName: DICER1 PMCID: PMC7859642 HGNCID: Unavailable Inheritance Pattern: Autosomal dominant. Disease Entity: Familial pleuropulmonary blastoma (PPB), cervix embryonal rhabdomyosarcoma, multinodular goiter, nasal chondromesenchymal hemartoma, Ciliary body medulloepithelioma, Sertoli-Leydig Cell Tumor (SLCT), differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, cystic nephroma, Wilm's tumor and sarcomas of different sites including, amongst others, the uterine cervix, kidney and brain. Mutation: Germline Zygosity: Heterozygose Variant: No ClinVarID present. Family Information: No family outline Case: No specified information of patients included. CasePresentingHPO's: n/a CasePrevious Testing: n/a gnomAD: n/a Mutation Type: nonsense, frameshift, or splice affected.

    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

    1. GeneName: DICER1 syndrome (pleuropulmonary blastoma familial tumor susceptibility syndrome), PMID (PubMed ID): 29762508, HGNCID: 17098, Inheritance pattern: autosomal-dominant disease, Disease entity: Plueropulomary Blastoma, Mutation: Somatic, Zygosity: heterozygous, Variant: multiple variants, Family information: NA, Case: young children, CasePresentingHPO: N/A, CasePreviousTesting: N/A, Gnomade #: N/A , Mutation type: deletion

  3. Apr 2022
    1. DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1 gene.

      Gene Name: DICER1 PMID:33552988 HGNCID: Unavailable Inheritance Pattern:Autosomal Dominant Disease Entity: familial pleuropulmonary blastoma (PPB),cystic nephroma, ovarian Sertoli-Leydig cell tumor (SLCT), multinodular goiter, cervix embryonal rhabdomyosarcoma, Wilms’ tumor, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, and sarcomas of different sites. Mutation: Nonsense, Frameshift<br /> Zygosity: Heterosygosity Variant:No ClinVar ID present Family Information:no diseases mentioned in family Case: no specified case in this article gnomAD: n/a Mutation type: Nonsense. frameshift

    1. Ravi K Gupta [@ravgup33_ravi]. (2021, November 24). This one is worrying and I’ve not said that since delta. Please get vaccinated and boosted and mask up in public as the mutations in this virus likely result in high level escape from neutralising antibodies [Tweet]. Twitter. https://twitter.com/ravgup33_ravi/status/1463626745651806208

    1. Prof. Christina Pagel 🇺🇦 [@chrischirp]. (2021, November 24). As well as Tom’s new one (B.1.1.529), C.1.2 seems to be spreading in S Africa—C.1.2 was the one with lots of worrying mutations first reported in August... Plus cases in S Africa suddenly increasing again in the middle of their summer. Https://t.co/fCqfOMcO83 [Tweet]. Twitter. https://twitter.com/chrischirp/status/1463504890530086917

    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. Dr Emma Hodcroft [@firefoxx66]. (2021, November 26). We now have B.1.1.529 sequences (designed at @nextstrain clade 21K) up in our Africa build. You can check them out below. These are from South Africa & Botswana—You can see the high number of mutations. CoVariants focal build & updates will come ASAP. https://t.co/fqBldneF5U [Tweet]. Twitter. https://twitter.com/firefoxx66/status/1464145615571623938

    1. Nathan Grubaugh [@NathanGrubaugh]. (2021, September 24). Hi @Newsweek 👋. I understand that #variant news has been slow recently with the near-complete dominance of Delta, but do you really need to go and make things up? Lineage R.1 is not a concern. Let me briefly explain why. (1/4) https://t.co/OD46PsXZEu [Tweet]. Twitter. https://twitter.com/NathanGrubaugh/status/1441522760832933888

  4. Mar 2022
    1. Mia Malan. (2021, November 25). [Thread] What is the potential impact of the new B.1.1.529 #COVID19 variant? @rjlessells: 1. It’s relatively simple to detect some B.1.1.529 cases, as it’s possible to use PCR tests to do this in some cases 2. B.1.1.529 = has many mutations across different parts of the virus https://t.co/ytktqLzJUi [Tweet]. @miamalan. https://twitter.com/miamalan/status/1463846528578109444

  5. Feb 2022
    1. Meaghan Kall. (2022, February 17). BA.2 risk assessment New this week is upgrading Immune Evasion—Amber 🟨 from low to moderate that BA.2 is antigentically different to BA.1 Unsurprising given the mutation profile, with BA.2 slightly more immune evasive than BA.1 on neuts studies https://t.co/n6DWtiRaNH [Tweet]. @kallmemeg. https://twitter.com/kallmemeg/status/1494100170195312646

    1. Trisha Greenhalgh. (2022, January 8). Apart from (e.g.): 1. Severe disease in clinically vulnerable (they are people too); 2. Long covid in many; 3. Strokes / heart attacks / kidney failure from micro-clots; 4. New-onset diabetes and MIS-C in children; 5. High potential for recombinant mutations. [Tweet]. @trishgreenhalgh. https://twitter.com/trishgreenhalgh/status/1479738523511136258

    1. Ulrich Elling. (2022, January 12). While #Omicron BA.1 leads the race, the little sister BA.2 is catching up in numbers. They are rather different with likely functional implications. BA.2 might be more immune evasive in RBD, less in NTD. And due to reduced mutation load in NTD maybe different fusion properties? Https://t.co/kEACjzQDs3 [Tweet]. @EllingUlrich. https://twitter.com/EllingUlrich/status/1481214901997682692

    1. Jonathan Li on Twitter: “There’s a lineage of Omicron that’s gained the R346K mutation (BA.1.1). This one could spell some trouble for the AZ mAb (tixagevimab/cilgavimab, Evusheld) that’s being used for pre-exposure prophylaxis. If you want to learn about tix/cil vs Omicron, read on 1/7” / Twitter. (n.d.). Retrieved February 6, 2022, from https://twitter.com/DrJLi/status/1487479972293853188

    1. Trevor Bedford. (2022, January 28). Omicron viruses can be divided into two major groups, referred to as PANGO lineages BA.1 and BA.2 or @nextstrain clades 21K and 21L. The vast majority of globally sequenced Omicron have been 21K (~630k) compared a small minority of 21L (~18k), but 21L is gaining ground. 1/15 [Tweet]. @trvrb. https://twitter.com/trvrb/status/1487105396879679488

  6. Jan 2022
    1. Pajon, R., Doria-Rose, N. A., Shen, X., Schmidt, S. D., O’Dell, S., McDanal, C., Feng, W., Tong, J., Eaton, A., Maglinao, M., Tang, H., Manning, K. E., Edara, V.-V., Lai, L., Ellis, M., Moore, K. M., Floyd, K., Foster, S. L., Posavad, C. M., … Montefiori, D. C. (2022). SARS-CoV-2 Omicron Variant Neutralization after mRNA-1273 Booster Vaccination. New England Journal of Medicine, 0(0), null. https://doi.org/10.1056/NEJMc2119912

    1. Cornelius Roemer. (2021, December 22). @mccarthy_kr I took a look at all these NY sequences. I don’t think these point mutations S:681H are real. Why? Because they appear all over the Omicron diversity. Some sequences have S:346K, some S:701V, most miss S679K, a few have it. That’s the signature of contamination/co-infection. Https://t.co/DcJD4q44EM [Tweet]. @CorneliusRoemer. https://twitter.com/CorneliusRoemer/status/1473507369455923203

  7. Dec 2021
    1. Garcia-Beltran, W. F., Denis, K. J. S., Hoelzemer, A., Lam, E. C., Nitido, A. D., Sheehan, M. L., Berrios, C., Ofoman, O., Chang, C. C., Hauser, B. M., Feldman, J., Gregory, D. J., Poznansky, M. C., Schmidt, A. G., Iafrate, A. J., Naranbhai, V., & Balazs, A. B. (2021). MRNA-based COVID-19 vaccine boosters induce neutralizing immunity against SARS-CoV-2 Omicron variant (p. 2021.12.14.21267755). https://doi.org/10.1101/2021.12.14.21267755

    1. nference. (2021, November 27). Here is how B.1.1.529 (#Omicron #B11529) compares to Alpha, Beta, Gamma, Delta variants. Omicron has highest novel Spike mutations including striking cluster on the “crown” suggesting significant selection pressure & antigenic distinction from prior strains (Credits: Nference) https://t.co/4oZQbjhbG8 [Tweet]. @_nference. https://twitter.com/_nference/status/1464404770098229250

  8. Nov 2021
  9. Oct 2021
    1. Mlcochova, P., Kemp, S. A., Dhar, M. S., Papa, G., Meng, B., Ferreira, I. A. T. M., Datir, R., Collier, D. A., Albecka, A., Singh, S., Pandey, R., Brown, J., Zhou, J., Goonawardane, N., Mishra, S., Whittaker, C., Mellan, T., Marwal, R., Datta, M., … Gupta, R. K. (2021). SARS-CoV-2 B.1.617.2 Delta variant replication and immune evasion. Nature, 1–6. https://doi.org/10.1038/s41586-021-03944-y

  10. Sep 2021
  11. Aug 2021
    1. Liu, Y., Arase, N., Kishikawa, J., Hirose, M., Li, S., Tada, A., Matsuoka, S., Arakawa, A., Akamatsu, K., Ono, C., Jin, H., Kishida, K., Nakai, W., Kohyama, M., Nakagawa, A., Yamagishi, Y., Nakagami, H., Kumanogoh, A., Matsuura, Y., … Arase, H. (2021). The SARS-CoV-2 Delta variant is poised to acquire complete resistance to wild-type spike vaccines (p. 2021.08.22.457114). https://doi.org/10.1101/2021.08.22.457114

  12. Jun 2021
    1. In general, top-level errors should only be used for exceptional circumstances when a developer should be made aware that the system had some kind of problem. For example, the GraphQL specification says that when a non-null field returns nil, an error should be added to the "errors" key. This kind of error is not recoverable by the client. Instead, something on the server should be fixed to handle this case. When you want to notify a client some kind of recoverable issue, consider making error messages part of the schema, for example, as in mutation errors.
  13. May 2021
    1. Eric Topol. (2021, May 1). Downgrading the concern on B.1.617, the poorly named ‘double mutant’—98% effectiveness of mRNA vaccine in an Israeli outbreak @CT_Bergstrom https://t.co/tGbuwPUmAL —Lab studies: Minimal immune evasion, expected full protection from vaccine @GuptaR_lab https://t.co/AIp24G0ROK https://t.co/AK20UWlDBD [Tweet]. @EricTopol. https://twitter.com/EricTopol/status/1388539223230140422

    1. Faria, N. R., Mellan, T. A., Whittaker, C., Claro, I. M., Candido, D. da S., Mishra, S., Crispim, M. A. E., Sales, F. C. S., Hawryluk, I., McCrone, J. T., Hulswit, R. J. G., Franco, L. A. M., Ramundo, M. S., Jesus, J. G. de, Andrade, P. S., Coletti, T. M., Ferreira, G. M., Silva, C. A. M., Manuli, E. R., … Sabino, E. C. (2021). Genomics and epidemiology of the P.1 SARS-CoV-2 lineage in Manaus, Brazil. Science. https://doi.org/10.1126/science.abh2644