43 Matching Annotations
  1. May 2022
    1. I think it may have been the British Library interview in which Wengrow says something like, you know, no one ever challenges a new conservative book and says, so and so has just offered a neoliberal perspective on X. But when an anarchist says something, people are sure to spend most of their time remarking on his politics. I think it's relevant that G&W call out Pinker's cherry-picking of Ötzi the ice man. They counter this with the Romito 2 specimen, but they insist that it is no more conclusive than Ötzi. So how does a challenging new interpretation gain ground in the face of an entrenched dominant narrative?

      This sentiment is very similar to one in a recent lecture series I'd started listening to: The Modern Intellectual Tradition: From Descartes to Derrida #.

      Lawrence Cahoone specifically pointed out that he would be highlighting the revolutionary (and also consequently the most famous) writers because they were the ones over history that created the most change in their field of thought.

      How does the novel and the different manage to break through?

      How does this relate to the broad thesis of Thomas S. Kuhn's The Structure of Scientific Revolutions?


      The comment Wengrow makes about "remarking on [an anarchist's] politics" as a means of attacking their ideas is quite similar to the sort of attacks that are commonly made on women. When female politicians make relevant remarks and points, mainstream culture goes to standbys about their voice or appearance: "She's 'shrill'", or "She doesn't look very good in that dress." They attack anything but the idea itself.

    1. DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types.

      GeneName: DICER1 PMID: 29762508 HGNCID: N/A Inheritance Pattern: Autosomal dominant Disease Entity: Cancer Mutation: Germline Zygosity: Heterozygosity Variant: Unregistered Family Information: 12% of children with pleuropulmonary blastomas have cystic nephromas Case: 11 year old patient with Hodgkin lymphoma with DICER1 mutation in 2016.

    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 gene is located on chromosome 14q32.13 and plays a crucial role in the control of protein translation; its product, dicer protein, is a ribonuclease (RNase) III endoribonuclease which is essential for the production of microRNAs (miRNA) which are formed by the cleavage of pre-miRNA or double-stranded RNA1–4. RNase III contains two domains, IIIa and IIIb which cleave 3p miRNA and 5p miRNA from the 3′ and 5′ pre-miRNA, respectively. These cleavages require magnesium ions at the interface between the IIIa and IIIb domains and the miRNA; this magnesium dependent catalytic processing occurs at specific residues, E1320, E1564, E1813 and D17092–4. miRNA has a pivotal role in regulating the expression of over 30% of protein-coding genes by its interaction with mRNA5. Given the impact of DICER1 in post-translational events, it is not entirely surprising that functional DICER1 is essential for vertebrate development as evidenced by developmental arrest and death of the embryo when both alleles are lost6,7. Conceptually, DICER1 can be regarded as either a tumor suppressor gene due to loss-of-function mutations or an oncogene due to gain-of-function mutations; it is thought to function as a haploinsufficient tumor suppressor gene with the loss of one allele leading to tumor progression but loss of both alleles having an inhibitory effect for tumor development implying that one intact allele is needed for cell survival8.

      Germline mutation Heterozygous Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations. Autosomal dominant PMID: 34599283 OMIM 606241, 601200)

  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. 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. DICER1 Syndrome

      GeneName: DICER1 PMID: 28323992 PMCID: PMC5443331 *No HGNCID found Inheritance pattern: autosomal-dominant Disease Entity: multinodular goiter and thyroid cancer Mutation: Germline Zygosity: not listed Variant: c.3726C>A; p.Tyr1242a, c.3675C>G; p.Tyr1225a Family Information: 145 individuals with DICER1 germline mutations from 48 family controls (135 individuals) that lacked the DICER1 mutation Case: male and female carriers as well as family members were studied. Ages: 20, 30, and 40 for both populations (DICER1 carriers were significantly younger than controls}. Population from Great Britain, UK, and USA (no significant difference between race, ethnicity, or sex found). CasePresentingHPOs: no previous therapeutic radiation or chemotherapy. Thyroid cancer or MNG diagnoses were likely reported with the DICER1 mutation CasePreviousTesting: Sequencing performed with Sanger or next-generation sequencing assays. DICER1 carriers underwent testing to obtain thyroid-stimulating hormone, thyroxine, thyroxine-binding globulin, and serum albumin levels as well as medical history and physical examinations (+thyroid palpation). Participants were also given thyroid US examinations. gnomAD: n/a Mutation Type: missense

    1. DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types

      GeneName: DICER1 PMID (PubMed ID): 29762508 HGNCID: Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: cancer, rare genetic disorder, pleuroplumonary blastomas, cystic nephroma, rhabdomyosarcoma, multinodular goiter, thyroid cancer, overian Sertoli-Leydig cell tumors, and other meoplasias Mutations: Germline mutations or Somatic mutations Zygosity: Heterozygosity Variant: unregistered Family Information: Cystic nephromas has been reported in approximately 12% of children with pleuripulmonary blastomas or those with a family member with cystic nephroma. Patient with two DICER1 mutations and several of his family members shared these mutations. All members developed a least one type of tumor with differing origins. The patient was an 11-year old boy with a rare Hodgkin lymphoma with DICER1 in 2016. (c.5299delC and c.4616C>T).

    2. DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types.

      GeneName = DICER1 PMID = 29762508 HGNCID = Can't find Inheritance pattern = Autosomal dominant Disease entity = cancer, multinodular goiter, pleuropulmonary blastoma, cystic nephroma, ovarian Sertoli-Leydig cell tumor Mutation = germline OR somatic Zygosity = causes loss of heterozygosity Variant = unregistered Family = those with the mutation almost always passed it on

    1. participants in the study reported feeling frustrated by the presence of an expert and dominant member who impeded the development of shared understanding and effort.

    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. Christina Pagel 🇺🇦. (2022, March 8). What could be causing it? Likely combo of: 1—Dominant BA.2 causing more infections (we await ONS!) 2—Reduction in masks, self-isolation & testing enabling more infections 3—Waning boosters in older people esp I worry that we will be stuck at high levels for long time. 2/2 https://t.co/xZ2SLFNVkS [Tweet]. @chrischirp. https://twitter.com/chrischirp/status/1501250081693048838

  3. Feb 2022
    1. Dr Emma Hodcroft. (2022, January 28). Just to clarify some confusion about what “Omicron” is. “Omicron” has always applied to the whole family (BA.1-3—We’ve known about them all since late-Nov/early-Dec). But the prevalence of BA.1 meant that it got shorthanded as ’Omicron’—That’s causing some confusion now!🥴 https://t.co/M4FwzGbluo [Tweet]. @firefoxx66. https://twitter.com/firefoxx66/status/1486999566725656576

    1. Mike Honey 💉💉💉. (2022, January 27). Here’s the latest variant picture for Australia. BA.1 (Omicron) is still very dominant. The new sub-lineage BA.1.1 (with the Spike R346K mutation) is significant, but not growing rapidly. Https://t.co/LsOCkUQhai [Tweet]. @Mike_Honey_. https://twitter.com/Mike_Honey_/status/1486654152939765766

    1. Prof. Christina Pagel. (2022, January 31). Update on growth of Omicron subvariant BA.2 in England from Wellcome Sanger data. Growing in all regions. The main Omicron variant we’ve had so far is BA.1. There is then its child BA.1.1 with an extra mutation and its brother BA.2 which is pretty different to BA.1. 1/2 https://t.co/iVxrf01P4o [Tweet]. @chrischirp. https://twitter.com/chrischirp/status/1488127760291799041

  4. Jan 2022
    1. Dave McNally. (2022, January 23). For the BA.2 watchers, looks like it doubling roughly every 4 days in the UK at the moment. Would make it the dominant strain around about February 14th. Maybe it is time to move away from the Greek alphabet and move onto their Gods instead. Eros variant? Https://t.co/G6mR5DUkz8 [Tweet]. @OliasDave. https://twitter.com/OliasDave/status/1485048710623076355

  5. Dec 2021
    1. Arieh Kovler. (2021, November 26). Israel has identified four cases of the B.1.1.529 variant, all recent travellers. One case, a 32-year-old woman returning from South Africa, was triple vaccinated with Pfizer and had her 3rd dose just two months ago. [Tweet]. @ariehkovler. https://twitter.com/ariehkovler/status/1464190991204859919

  6. Oct 2021
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  10. Mar 2021
  11. Feb 2021
  12. Nov 2020
    1. law of dominance

      This law tells us that in a heterozygote, one trait is going to mask the presence of another trait that holds the same characteristic. Only the dominant allele will be expressed instead of both.

  13. Jul 2020