| 1. |
- Mukai, M., et al.
(författare)
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In-gas-cell laser resonance ionization spectroscopy of Ir-196,Ir-197,Ir-198
- 2020
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 102:5
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Tidskriftsartikel (refereegranskat)abstract
- Hyperfine structure (HFS) measurements of neutron-rich iridium isotopes Ir-196,Ir-197,Ir-198 (Z = 77, N = 119-121) were performed via in-gas-cell laser resonance ionization spectroscopy at the KEK Isotope Separation System. Magnetic dipole moments mu and isotope shifts were determined from the HFS spectra. The variation of mean-square charge radii and quadrupole deformation parameters of these isotopes were evaluated from the isotope shifts. The mu value of (197)h, agreed with a theoretical value based on the strong coupling model, and the Ir nucleus was interpreted as prolately deformed by the theoretical calculations. The mu values of Ir-196,Ir-198 were also compared with semiempirical values calculated based on the strong coupling model. From the comparison, we can suggest the possible spin values of I-pi = 1,2(-) for Ir-196 and I-pi = 1(-) for Ir-198.
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| 2. |
- Anderson, Beverley H., et al.
(författare)
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 338-342
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Tidskriftsartikel (refereegranskat)abstract
- Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
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| 3. |
- Pelletier, F., et al.
(författare)
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
- 2021
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Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2
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Tidskriftsartikel (refereegranskat)abstract
- Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
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| 4. |
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| 5. |
- Desnick, Robert J., et al.
(författare)
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Roscoe Owen Brady, MD : Remembrances of co-investigators and colleagues
- 2017
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Ingår i: Molecular Genetics and Metabolism. - : Elsevier BV. - 1096-7192. ; 120:1-2, s. 1-7
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Tidskriftsartikel (refereegranskat)abstract
- To celebrate the research visions and accomplishments of the late Roscoe O. Brady (1923-2016), remembrance commentaries were requested from several of his postdoctoral research fellows and colleagues. These commentaries not only reflect on the accomplishments of Dr. Brady, but they also share some of the backstories and experiences working in the Brady laboratory. They provide insights and perspectives on Brady's research activities, and especially on his efforts to develop an effective treatment for patients with Type 1 Gaucher disease. These remembrances illuminate Brady's efforts to implement the latest scientific advances with an outstanding team of young co-investigators to develop and demonstrate the safety and effectiveness of the first enzyme replacement therapy for a lysosomal storage disease. Brady's pursuit and persistence in accomplishing his research objectives provide insights into this remarkably successful physician scientist who paved the way for the development of treatments for patients with other lysosomal storage diseases.
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| 6. |
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| 7. |
- Vellodi, A, et al.
(författare)
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Management of neuronopathic Gaucher disease : revised recommendations
- 2009
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Ingår i: Journal of Inherited Metabolic Disease. - : Springer. - 0141-8955 .- 1573-2665. ; 32:5, s. 660-664
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Tidskriftsartikel (refereegranskat)abstract
- The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme replacement therapy (120 IU/kg of body weight every 2 weeks) in stabilizing neurological disease. The existing published evidence was analysed; it was concluded that it did not support the role of high-dose ERT, although this might be required to treat severe visceral disease.
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| 8. |
- Wang, K., et al.
(författare)
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Benchmarking Atomic Data from Large-scale Multiconfiguration Dirac Hartree Fock Calculations for Astrophysics : S-like Ions from Cr IX to Cu XIV
- 2018
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Ingår i: Astrophysical Journal Supplement Series. - : Bibliopolis, Edizioni di Filosofia e Scienze. - 0067-0049 .- 1538-4365. ; 239:2
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Tidskriftsartikel (refereegranskat)abstract
- We present a consistent set of calculated energies and El, Ml, E2, M2 radiative transition data for the main n = 3 levels from the 3s(2)3p(4), 3p(6), 3s3p(4)3d, 3s(2)3p(2)3d(2), 3s3p(5), 3s(2)3p(3)3d, and 3s3p(3)3d(2) configurations for S-like ions from Cr TX to Cu XIV. The fully relativistic multiconfiguration Dirac Hartree Fock method implemented in the GRASP2K code is used to perform the present calculations. The excitation energies of the lowest 47 levels from the 3s(2)3p(4), 3s3p(5), and 3s(2)3p3 3d configurations, producing the strongest lines, are found to be in good agreement, reaching spectroscopic accuracy, with the latest experimental values for Fe XI evaluated by Del Zanna. Our energies can reliably be used to identify in astrophysical and laboratory spectra the 3s(2)3p(3) 3d levels in other S-like ions, which are mostly unknown. On the contrary, significant discrepancies with the 3s3p(4)3d levels were found, emphasizing the need for more detailed experimental studies. A few new tentative identifications are suggested. The benchmarks we present indicate that our consistent set of radiative data is accurate and can be used for spectral line modeling.
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| 9. |
- Yordanov, Deyan T., et al.
(författare)
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Structural trends in atomic nuclei from laser spectroscopy of tin
- 2020
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Ingår i: Communications Physics. - : Springer Nature. - 2399-3650. ; 3:1
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Tidskriftsartikel (refereegranskat)abstract
- Tin is the chemical element with the largest number of stable isotopes. Its complete proton shell, comparable with the closed electron shells in the chemically inert noble gases, is not a mere precursor to extended stability; since the protons carry the nuclear charge, their spatial arrangement also drives the nuclear electromagnetism. We report high-precision measurements of the electromagnetic moments and isomeric differences in charge radii between the lowest 1/2(+), 3/2(+), and 11/2(-) states in Sn117-131, obtained by collinear laser spectroscopy. Supported by state-of-the-art atomic-structure calculations, the data accurately show a considerable attenuation of the quadrupole moments in the closed-shell tin isotopes relative to those of cadmium, with two protons less. Linear and quadratic mass-dependent trends are observed. While microscopic density functional theory explains the global behaviour of the measured quantities, interpretation of the local patterns demands higher-fidelity modelling. Measurements of the hyperfine structure of chemical elements isotopes provide unique insight into the atomic nucleus in a nuclear model-independent way. The authors present collinear laser spectroscopy data obtained at the CERN ISOLDE and measure hyperfine splitting along a long chain of odd-mass tin isotopes.
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