3,262 research outputs found
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
No full textThe biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes. Weaver syndrome is a human overgrowth condition characterised by tall stature, dysmorphic facial features, learning disability and variable additional features. We performed exome sequencing in four individuals with Weaver syndrome, identifying a mutation in the histone methyltransferase, EZH2, in each case. Sequencing of EZH2 in additional individuals with overgrowth identified a further 15 mutations. The EZH2 mutation spectrum in Weaver syndrome shows considerable overlap with the inactivating somatic EZH2 mutations recently reported in myeloid malignancies. Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth
Correspondence: [L. W. Shrafur?] to Zebulon Weaver, January 4, 1926 (Purchase Fund Campaign)
No full textZebulon Weaver (1872-1948) was a lawyer and U.S. Representative from western North Carolina. He was a member of the North Carolina Park Commission and was involved in the land acquisition process that went towards establishment of the Great Smoky Mountain National Park and development of the Blue Ridge Parkway.
In this letter [L. W. Shrafur?] states he was sending to Congressman Weaver in Washington copies of the publications-“Great Smoky Mountains” and “Save Our Mountains,” as per the latter’s request. He was also sending a copy of December’s “Outlook” and a copy of the “National Park” booklet from November devoted to the Smoky Mountain National Park. The letter ends by stating Weaver inform others in Washington that the Purchase Fund Campaign for the Great Smoky Mountains National Park would work towards raising the balance of the 1,000,000
fund^and with every prospect of securing the
balance of the fund in the next few weeks.
LWS-.TL
Thanking you for your devoted interest, I am
Sincerely yours,
Jutrr<s* oAjlouvC ^Vc*
Correction: Forrester, N.L.; Coffey, L.L.; Weaver, S.C. Arboviral Bottlenecks and Challenges to Maintaining Diversity and Fitness during Mosquito Transmission. Viruses 2014, 6, 3991–4004
No full textIn the original manuscript, Forrester, N.L.; Coffey, L.L.; Weaver, S.C. Arboviral Bottlenecks and Challenges to Maintaining Diversity and Fitness during Mosquito Transmission. Viruses 2014, 6, 3991–4004, Figure 1 contains an error, the third bottle was absent from the figure:[...
O’nyong-nyong fever: a neglected mosquito-borne viral disease
No full textO’nyong nyong virus (ONNV), a mosquito-borne Alphavirus, is primarily transmitted through the bite of Anopheles funestus and Anopheles gambiae mosquitoes, which are also malaria parasite vectors in Africa. The virus, first isolated in Uganda in 1959, is endemic in sub-Saharan Africa and has caused several major outbreaks both in West and East Africa. ONNV fever, characterized by severe arthralgia, is similar to chikungunya fever, with the exception of cervical lymphadenitis, which is peculiar to the former. Prevention measures do not differ from those adopted against malaria parasite transmission. Effective vaccines and drugs are not available, but animal models suggest that vaccine candidates against CHIKV may also confer protection against ONNV
Earnings-related mandatory pensions : concepts for design
No full textThe author offers a framework for economic policy on mandatory earnings-related pensions. He does not discuss the gains and losses from mandating insurance and savings, nor the use of this policy as a vehicle for income redistribution. Instead, he concentrates on areas that are less well understood: the microeconomics, the macroeconomics, and the political economy of mandatory pensions. His analysis focuses on three main areas: insurance design, privatization, and degree of funding. In each area, he provides a checklist of design issues, drawn from international experience and economic analysis. For insurance, there are two sets of choices: between flat actuarial factor or individual actuarial factor and between defined benefit or defined contribution (in the sense of financial guarantee). For privatization, the essential choices are between private or nationalized provision, and between private or national demand. For funding, the choices are between funding or not funding, and between apparent funding or pay-as-you-go financing. Some combinations can be discarded. Privatization should not be combined with flat actuarial factors, for example, because private suppliers will compete for access to rents that accrue to workers who are awarded implicit subsidies. Privatization is compatible with apparent funding, but not with pay-as-you-go financing, because in the latter there are no funds to invest in the capital market. The policy choice is ultimately between two coherent designs whose relative advantages and drawbacks the author discusses. One, is an individual actuarial factor with privatized production and demand, with risk explicitly allocated to pensions, and with partial funding. Two, is a flat actuarial factor coupled with nationalized production, pay-as-you-go financing, and statutory promises of fixed real pensions (defined benefit).Banks&Banking Reform,Environmental Economics&Policies,Health Economics&Finance,Insurance&Risk Mitigation,Pensions&Retirement Systems
Critical review on: feasibility of horizontal standard rapid method for detection of Clostridium perfringens and enterococci in sludges, soil, soil improvers, growing media and biowastes
No full textFactors Associated with Bone Mineral Density and Bone Resorption Markers in Postmenopausal HIV-Infected Women on Antiretroviral Therapy: A Prospective Cohort Study
No full text(c) The Author/sThe study aimed to determine factors associated with changes in bone mineral density (BMD) and bone resorption markers over two years in black postmenopausal women living with human immunodeficiency virus (HIV) on antiretroviral therapy (ART). Women (n = 120) aged > 45 years were recruited from Potchefstroom, South Africa. Total lumbar spine and left femoral neck (LFN) BMD were measured with dual energy X-ray absorptiometry. Fasting serum C-Telopeptide of Type I collagen (CTx), vitamin D and parathyroid hormone were measured. Vitamin D insufficiency levels increased from 23% at baseline to 39% at follow up. In mixed linear models serum CTx showed no change from baseline to end (p = 0.363, effect size = 0.09). Total and LFN BMD increased significantly over two years, but effect sizes were small. No significant change in spine BMD over time was detected (p = 0.19, effect size = 0.02). Age was significantly positively associated with CTx over time, and negatively with total and LFN BMD. Physical activity (PA) was positively associated with LFN BMD (p = 0.008). Despite a decrease in serum vitamin D, BMD and CTx showed small or no changes over 2 years. Future studies should investigate PA interventions to maintain BMD in women living with HIV.fals
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
No full textWeaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals with EZH2 mutations. The mutations were primarily missense mutations occurring throughout the gene, with some clustering in the SET domain (12/48). Truncating mutations were uncommon (4/48) and only identified in the final exon, after the SET domain. Through analyses of clinical data and facial photographs of EZH2 mutation-positive individuals, we have shown that the facial features can be subtle and the clinical diagnosis of Weaver syndrome is thus challenging, especially in older individuals. However, tall stature is very common, reported in >90% of affected individuals. Intellectual disability is also common, present in ~80%, but is highly variable and frequently mild. Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry. Considerable phenotypic overlap between Sotos and Weaver syndromes is also evident. The identification of an EZH2 mutation can therefore provide an objective means of confirming a subtle presentation of Weaver syndrome and/or distinguishing Weaver and Sotos syndromes. As mutation testing becomes increasingly accessible and larger numbers of EZH2 mutation-positive individuals are identified, knowledge of the clinical spectrum and prognostic implications of EZH2 mutations should improve
sj-docx-1-anr-10.1177_20530196221144098 – Supplemental material for The Searsville Lake Site (California, USA) as a candidate Global Boundary Stratotype Section and Point for the Anthropocene Series
No full textSupplemental material, sj-docx-1-anr-10.1177_20530196221144098 for The Searsville Lake Site (California, USA) as a candidate Global Boundary Stratotype Section and Point for the Anthropocene Series by M Allison Stegner, Elizabeth A Hadly, Anthony D Barnosky, SeanPaul La Selle, Brian Sherrod, R Scott Anderson, Sergio A Redondo, Maria C Viteri, Karrie L Weaver, Andrew B Cundy, Pawel Gaca, Neil L Rose, Handong Yang, Sarah L Roberts, Irka Hajdas, Bryan A Black and Trisha L Spanbauer in The Anthropocene Review</p
sj-csv-2-anr-10.1177_20530196221144098 – Supplemental material for The Searsville Lake Site (California, USA) as a candidate Global Boundary Stratotype Section and Point for the Anthropocene Series
No full textSupplemental material, sj-csv-2-anr-10.1177_20530196221144098 for The Searsville Lake Site (California, USA) as a candidate Global Boundary Stratotype Section and Point for the Anthropocene Series by M Allison Stegner, Elizabeth A Hadly, Anthony D Barnosky, SeanPaul La Selle, Brian Sherrod, R Scott Anderson, Sergio A Redondo, Maria C Viteri, Karrie L Weaver, Andrew B Cundy, Pawel Gaca, Neil L Rose, Handong Yang, Sarah L Roberts, Irka Hajdas, Bryan A Black and Trisha L Spanbauer in The Anthropocene Review</p
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