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BACKGROUND: A mutation found in the BRCA1 or BRCA2 gene of a breast tumor could be either germline or somatically acquired. The prevalence of somatic BRCA1/2 mutations and the ratio between somatic and germline BRCA1/2 mutations in unselected breast cancer patients are currently unclear.PATIENTS AND METHODS: Paired normal and tumor DNA was analyzed for BRCA1/2 mutations by massively parallel seque
In recent years, subsets of chronic lymphocytic leukemia (CLL) patients carrying quasi-identical or stereotyped B cell receptors (BcRs) have been identified that share clinicobiological features and disease outcome. While these stereotyped subsets show distinct gene expression and genomic profiles, the DNA methylation landscape remains largely unexplored. By applying high-resolution 450K methylati
Osteoarthritis (OA) constitutes a major and increasing burden on patients, health care systems and the broader society. It is estimated that around a quarter of the adult population is affected by OA in the knee and hip and that the prevalence of OA will increase over the coming decades largely due to aging and adverse life-style factors. Prevention and effective care are critical to manage the ch
BACKGROUND: Protein S is an important regulatory protein of the coagulation cascade. The risk for venous thrombosis associated with protein S deficiency has been uncertain because all previous risk estimates used phenotypic evaluation alone, which can be ambiguous.OBJECTIVE: To quantitate the risk for thrombosis associated with a characterized protein S gene mutation that causes a Gly295-->Val sub
Plants make specialized bioactive metabolites to defend themselves against attackers. The conserved control mechanisms are based on transcriptional activation of the respective plant species-specific biosynthetic pathways by the phytohormone jasmonate. Knowledge of the transcription factors involved, particularly in terpenoid biosynthesis, remains fragmentary. By transcriptome analysis and functio
Climate change has the potential to affect the ecology and evolution of every species on Earth. Although the ecological consequences of climate change are increasingly well documented, the effects of climate on the key evolutionary process driving adaptation - natural selection - are largely unknown. We report that aspects of precipitation and potential evapotranspiration, along with the North Atl
The Paleoproterozoic Era witnessed crucial steps in the evolution of Earth's surface environments following the first appreciable rise of free atmospheric oxygen concentrations ∼2.3 to 2.1 Ga ago, and concomitant shallow ocean oxygenation. While most sedimentary successions deposited during this time interval have experienced thermal overprinting from burial diagenesis and metamorphism, the ca. 2.
Introduced species offer unique opportunities to study evolution in new environments, and some provide opportunities for understanding the mechanisms underlying macroecological patterns. We sought to determine how introduction history impacted genetic diversity and differentiation of the house sparrow (Passer domesticus), one of the most broadly distributed bird species. We screened eight microsat
BACKGROUND: Despite pain control being a top priority in end-of-life care, pain continues to be a troublesome symptom and comprehensive data on pain prevalence and pain relief in patients with different diagnoses are scarce.METHODS: The Swedish Register of Palliative Care (SRPC) was used to retrieve data from 2011 to 2022 about pain during the last week of life. Data were collected regarding occur
SASE saturation was recently achieved at the Advanced Photon Source's SASE FFL in the low-energy undulator test line at 530 nm and 385 urn. The electron beam microbunching becomes more and more prominent until saturation is achieved. This bunching causes nonlinear harmonic emission that extends the usefulness of a SASE system in achieving shorter FEL wavelengths for the same electron beam energy.
Isolated Ca2+-binding EF-hand peptides have a tendency to dimerize. This study is an attempt to account for the coupled equilibria of Ca2+-binding and peptide association for two EF-hands with strikingly different loop sequence and net charge. We have studied each of the two separate EF-hand fragments from calbindin D-9k. A series of Ca2+-titrations at different peptide concentrations were monitor
Context:Late-onset hypogonadism (LOH) has been defined as a syndrome in middle-aged and elderly men reporting symptoms in the presence of low testosterone (T). Objective:The objective of the study was to seek objective biochemical and end-organ evidence of androgen deficiency in men classified as having LOH according to our previously published criteria. Design, Setting, and Participants:The des
The structure of Sn-105 has been investigated through the Cr-50(Ni-58, 2pn) reaction at a beam energy of 210 MeV. In addition to an extension of the spherical level scheme, a regular sequence of dipole transitions has been found. The experimental results are in agreement with the prediction of Tilted Axis Cranking calculations, which satisfactorily explain the properties of the band.
The diphtheria toxin A chain (DTA) was gene targeted into the Joining chain (J chain) locus to create a mouse strain selecting against J chain-expressing cells, JDTA mice. Serum immunoglobulin (Ig)M and serum IgG were reduced six to eightfold, while serum IgA was elevated 14-fold in these mice. JDTA mice were immune competent although the serum Ig response compared with wild-type mice was reduced
Neutron deficient (98)pd nuclei were produced in the Cr-50(Ni-58,2p2 alpha)(98) Pd reaction at a beam energy of 261 MeV. A revision and extension of the level structure of (98)pd is proposed. About 40 new transitions have been assigned to, and placed in the level scheme of this nucleus. A sequence of states are candidates for the negative parity 4-quasiparticle states built on the pi g(9/2)(-3)pi
Purpose: Radiographic abnormalities in the pubic bone and symphysis are often seen in athletes with groin pain. The aim was to create a grading scale of such radiologic changes. Material and Methods: Plain radiography of the pelvic ring including the pubic bone and the symphysis was performed in 20 male athletes, age 19-35, with long-standing uni- or bilateral groin pain. We used two control grou
The purpose of this long-term treatment study was to evaluate health-related quality of life by comparing the effects of diltiazem and atenolol on some important metabolic parameters. SUBJECTS, MATERIAL AND METHODS: In a Swedish-Finnish long-term multicenter study 256 patients with mild to moderate hypertension were randomized to treatment with diltiazem retard (D) (n = 127) or atenolol (A) (n = 1
Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with
