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1.
Phys Rev Lett ; 128(2): 022502, 2022 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-35089728

RESUMO

Collinear laser spectroscopy is performed on the nickel isotopes ^{58-68,70}Ni, using a time-resolved photon counting system. From the measured isotope shifts, nuclear charge radii R_{c} are extracted and compared to theoretical results. Three ab initio approaches all employ, among others, the chiral interaction NNLO_{sat}, which allows an assessment of their accuracy. We find agreement with experiment in differential radii δ⟨r_{c}^{2}⟩ for all employed ab initio methods and interactions, while the absolute radii are consistent with data only for NNLO_{sat}. Within nuclear density functional theory, the Skyrme functional SV-min matches experiment more closely than the Fayans functional Fy(Δr,HFB).

2.
Phys Rev Lett ; 124(13): 132502, 2020 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-32302185

RESUMO

We present the first laser spectroscopic measurement of the neutron-rich nucleus ^{68}Ni at the N=40 subshell closure and extract its nuclear charge radius. Since this is the only short-lived isotope for which the dipole polarizability α_{D} has been measured, the combination of these observables provides a benchmark for nuclear structure theory. We compare them to novel coupled-cluster calculations based on different chiral two- and three-nucleon interactions, for which a strong correlation between the charge radius and dipole polarizability is observed, similar to the stable nucleus ^{48}Ca. Three-particle-three-hole correlations in coupled-cluster theory substantially improve the description of the experimental data, which allows to constrain the neutron radius and neutron skin of ^{68}Ni.

3.
Phys Rev Lett ; 122(19): 192502, 2019 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-31144969

RESUMO

The change in mean-square nuclear charge radii δ⟨r^{2}⟩ along the even-A tin isotopic chain ^{108-134}Sn has been investigated by means of collinear laser spectroscopy at ISOLDE/CERN using the atomic transitions 5p^{2} ^{1}S_{0}→5p6 s^{1}P_{1} and 5p^{2} ^{3}P_{0}→5p6s ^{3}P_{1}. With the determination of the charge radius of ^{134}Sn and corrected values for some of the neutron-rich isotopes, the evolution of the charge radii across the N=82 shell closure is established. A clear kink at the doubly magic ^{132}Sn is revealed, similar to what has been observed at N=82 in other isotopic chains with larger proton numbers, and at the N=126 shell closure in doubly magic ^{208}Pb. While most standard nuclear density functional calculations struggle with a consistent explanation of these discontinuities, we demonstrate that a recently developed Fayans energy density functional provides a coherent description of the kinks at both doubly magic nuclei, ^{132}Sn and ^{208}Pb, without sacrificing the overall performance. A multiple correlation analysis leads to the conclusion that both kinks are related to pairing and surface effects.

4.
Pneumologie ; 63(11): 669-74, 2009 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-19790036

RESUMO

BACKGROUND: In hereditary haemorrhagic teleangiectasia (HHT) can be accompanied by pulmonary arteriovenous vascular malformations (PAVM). Pulmonary hypertension (PH) is regarded as a rare pulmonary manifestation. METHODS AND PATIENTS: We non-invasively assessed the pulmonary circulation in 20 patients with HHT using standard resting echocardiography including contrast studies. In 14 patients a mutation in the endoglin gene was present. The other 6 patients carried a mutation in the Alk-1 gene. RESULTS: We identified 4 patients with manifest PH, among them 2 patients (both with endoglin mutations) with concurrent thromboembolism, and 2 patients (both with Alk-1 mutations) with hepatic manifestations of HHT. Two patients required specific pulmonary vasoactive therapy with sildenafil and bosentan, respectively. Another patient received embolisation therapy for hypercirculatory PH due to hepatic arteriovenous malformations. Pulmonary arteriovenous malformations were found in 8 patients (7 with endoglin, and 1 with Alk-1 mutations), among them were 2 patients with PH. CONCLUSIONS: Patients with HHT should undergo echocardiographic screening for PAVM as well as PH. When PH is detected, other conditions such as hepatic or thromboembolic diseases should be considered, regardless of the underlying genetic defect.


Assuntos
Receptores de Activinas Tipo II/genética , Antígenos CD/genética , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/genética , Receptores de Superfície Celular/genética , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/genética , Adulto , Idoso , Endoglina , Feminino , Heterozigoto , Humanos , Hipertensão Pulmonar/etiologia , Masculino , Pessoa de Meia-Idade , Telangiectasia Hemorrágica Hereditária/complicações , Adulto Jovem
5.
Clin Genet ; 69(3): 239-45, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16542389

RESUMO

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal-dominant disease characterized by recurrent epistaxis, mucocutaneous telangiectasias and visceral arteriovenous malformations. Mutations in endoglin (ENG) and activin A receptor type II-like kinase 1 (ACVRL1 or ALK1) have been found in patients with HHT. We have screened a total of 51 unselected German index cases with the suspected diagnosis of HHT. We identified 30 different mutations in 32 cases (62.7%) by direct sequencing. Among these mutations, 11 of 13 ENG mutations and 12 of 17 ACVRL1 mutations were not previously reported in the literature. Two of the ACVRL1 mutations were each shared by two families. An analysis of the genotype-phenotype correlation is consistent with a more common frequency of pulmonary arteriovenous malformations in patients with ENG mutations than in patients with ACVRL1 mutations in our collective.


Assuntos
Receptores de Activinas Tipo II/genética , Antígenos CD/genética , Mutação , Receptores de Superfície Celular/genética , Telangiectasia Hemorrágica Hereditária/genética , Sequência de Aminoácidos , Malformações Arteriovenosas/complicações , Malformações Arteriovenosas/genética , Endoglina , Genótipo , Alemanha , Humanos , Dados de Sequência Molecular , Fenótipo , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Homologia de Sequência de Aminoácidos , Telangiectasia Hemorrágica Hereditária/complicações
6.
DNA Cell Biol ; 20(2): 81-8, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11244565

RESUMO

New World primates develop T-cell lymphomas on infection with Herpesvirus saimiri. To investigate the oncogenic potential of the Tip gene of Herpesvirus saimiri strain C488, we tried to establish transgenic mice that should express Tip under control of a constitutive promoter. Although transgene-positive embryos were found, lines could not be established. However, using a system in which the transgene has to be activated by a Cre recombinase-mediated deletion, we were able to obtain several Tip transgenic lines. At high expression levels, the mice developed T-cell lymphomas. Thus, Tip can induce lymphomas and is therefore very likely responsible for the oncogenicity of Herpesvirus saimiri.


Assuntos
Genes Virais , Herpesvirus Saimiriíneo 2/genética , Linfoma de Células T/genética , Linfoma de Células T/virologia , Camundongos Transgênicos/genética , Fosfoproteínas/genética , Proteínas Virais/genética , Proteínas Estruturais Virais/genética , Animais , Cruzamentos Genéticos , Desenvolvimento Embrionário e Fetal/genética , Herpesvirus Saimiriíneo 2/patogenicidade , Proteína Tirosina Quinase p56(lck) Linfócito-Específica/metabolismo , Linfoma de Células T/mortalidade , Linfoma de Células T/patologia , Camundongos , Camundongos Endogâmicos C3H , Camundongos Endogâmicos C57BL , Camundongos Transgênicos/virologia , Fosfoproteínas/biossíntese , Fosfoproteínas/metabolismo , Fosfoproteínas/fisiologia , Análise de Sobrevida , Proteínas Virais/biossíntese , Proteínas Virais/metabolismo , Proteínas Virais/fisiologia
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