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- 2019
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Journal article (peer-reviewed)
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| 3. |
- Yamasaki, Y, et al.
(author)
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Mouse chromosome 19 and distal rat chromosome 1: a chromosome segment conserved in evolution.
- 2001
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In: Hereditas. - : Wiley-Blackwell Publishing, Inc.. - 0018-0661 .- 1601-5223. ; 134:1, s. 23-34
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Journal article (peer-reviewed)abstract
- Through a combination of radiation hybrid mapping and studies by FISH and zoo-FISH we have made a comparative investigation of the distal portion of rat chromosome 1 (RNO1) and the entire mouse chromosome 19 (MMU19). It was found that homologous segments of RNO1 and MMU19 are similar in banding morphology and in length as determined by several different methods, and that the gene order of the 46 genes studied appears to be conserved across the homologous segments in the two species. High-resolution zoo-FISH techniques showed that MMU19 probes highlight only a continuous segment on RNO1 (1q43-qter), with no detectable signals on other rat chromosomes. We conclude that these data suggest the evolutionary conservation of a chromosomal segment from a common rodent ancestor. This segment now constitutes the entire MMU19 and a large segment distally on RNO1q in the mouse and rat, respectively.
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| 4. |
- Curigliano, G, et al.
(author)
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De-escalating and escalating treatments for early-stage breast cancer: the St. Gallen International Expert Consensus Conference on the Primary Therapy of Early Breast Cancer 2017.
- 2017
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In: Annals of oncology : official journal of the European Society for Medical Oncology. - : Elsevier BV. - 1569-8041. ; 28:8, s. 1700-1712
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Journal article (peer-reviewed)abstract
- The 15th St. Gallen International Breast Cancer Conference 2017 in Vienna, Austria reviewed substantial new evidence on loco-regional and systemic therapies for early breast cancer. Treatments were assessed in light of their intensity, duration and side-effects, seeking where appropriate to escalate or de-escalate therapies based on likely benefits as predicted by tumor stage and tumor biology. The Panel favored several interventions that may reduce surgical morbidity, including acceptance of 2 mm margins for DCIS, the resection of residual cancer (but not baseline extent of cancer) in women undergoing neoadjuvant therapy, acceptance of sentinel node biopsy following neoadjuvant treatment of many patients, and the preference for neoadjuvant therapy in HER2 positive and triple-negative, stage II and III breast cancer. The Panel favored escalating radiation therapy with regional nodal irradiation in high-risk patients, while encouraging omission of boost in low-risk patients. The Panel endorsed gene expression signatures that permit avoidance of chemotherapy in many patients with ER positive breast cancer. For women with higher risk tumors, the Panel escalated recommendations for adjuvant endocrine treatment to include ovarian suppression in premenopausal women, and extended therapy for postmenopausal women. However, low-risk patients can avoid these treatments. Finally, the Panel recommended bisphosphonate use in postmenopausal women to prevent breast cancer recurrence. The Panel recognized that recommendations are not intended for all patients, but rather to address the clinical needs of the majority of common presentations. Individualization of adjuvant therapy means adjusting to the tumor characteristics, patient comorbidities and preferences, and managing constraints of treatment cost and access that may affect care in both the developed and developing world.
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| 5. |
- Mercati, O, et al.
(author)
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CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.
- 2017
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In: Molecular psychiatry. - : Springer Science and Business Media LLC. - 1476-5578 .- 1359-4184. ; 22
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Journal article (peer-reviewed)abstract
- Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6(W923X) was transmitted by a mother to her two sons with ASD and one variant CNTN6(P770L) was found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD.Molecular Psychiatry advance online publication, 10 May 2016; doi:10.1038/mp.2016.61.
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| 7. |
- Onodera, J., et al.
(author)
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Interannual Variation of Settling Particles Reflects Upper-Ocean Circulation in the Southern Chukchi Borderland, 2010-2014
- 2021
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In: Journal of Geophysical Research: Oceans. - 2169-9275. ; 126:12
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Journal article (peer-reviewed)abstract
- Time series monitoring of hydrography and marine settling particles supplies a large amount of information regarding the marine lower-trophic ecosystem with respect to the changing Arctic Ocean. To investigate the interannual relationship between the settling particles and hydrographic conditions of the western Arctic Ocean, bottom-tethered sediment trap moorings were deployed at the Northwind Abyssal Plain (NAP) from October 2010 to September 2014 and at the Chukchi Abyssal Plain (CAP) from October 2012 to September 2013 to the east and west of the Chukchi Borderland. The settling particles at both stations contained a significant amount of lithogenic matter, with biogenic particles being a lateral advection of shelf materials from shelf to basin. The many peaks of settling particle fluxes at NAP in 2013–2014 corresponded to the hydrographic events of passing oceanic eddies over the station, in addition to seasonal biological production. The settling particle flux at CAP remarkably increased when Pacific-origin water advected over the northern shelf of the Chukchi Sea in March–April 2013. Additionally, abundant gelatinous matter was found at NAP and CAP in July–September 2011 and 2014 and in July–August 2013, respectively. The settling flux data of particulate organic matter and the mole ratio and stable isotope ratios of particulate organic carbon and nitrogen reflected the changes in the composition of trapped plankton assemblages under various hydrographic conditions over the course of the four years of the study. © 2021. The Authors.
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| 8. |
- Rojas-Macias, Miguel A., 1979, et al.
(author)
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Towards a standardized bioinformatics infrastructure for N- and O-glycomics
- 2019
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10
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Journal article (peer-reviewed)abstract
- The mass spectrometry (MS)-based analysis of free polysaccharides and glycans released from proteins, lipids and proteoglycans increasingly relies on databases and software. Here, we review progress in the bioinformatics analysis of protein-released N- and O-linked glycans (N-and O-glycomics) and propose an e-infrastructure to overcome current deficits in data and experimental transparency. This workflow enables the standardized submission of MS-based glycomics information into the public repository UniCarb-DR. It implements the MIRAGE (Minimum Requirement for A Glycomics Experiment) reporting guidelines, storage of unprocessed MS data in the GlycoPOST repository and glycan structure registration using the GlyTouCan registry, thereby supporting the development and extension of a glycan structure knowledgebase.
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| 9. |
- Sameera, W. M. C., et al.
(author)
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Modelling the Radical Chemistry on Ice Surfaces: An Integrated Quantum Chemical and Experimental Approach
- 2022
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In: Frontiers in Astronomy and Space Sciences. - : Frontiers Media SA. - 2296-987X. ; 9
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Journal article (peer-reviewed)abstract
- Heterogeneous radical processes on ice surfaces play a vital role in the formation of building blocks of the biologically relevant molecules in space. Therefore, quantitative mechanistic details of the radical binding and radical reactions on ices are crucial in rationalizing the chemical evolution in the Universe. The radical chemistry on ice surfaces was explored at low temperatures by combining quantum chemical calculations and laboratory experiments. A range of binding energies was observed for OH, HCO, CH3, and CH3O radicals binding on ices. Computed reaction paths of the radical reactions on ices, OCS + H and PH3 + D, explained the experimentally observed products. In both radical reactions, quantum tunnelling plays a key role in achieving the reactions at low temperatures. Our findings give quantitative insights into radical chemistry on ice surfaces in interstellar space and the planetary atmospheres.
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