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- Böhm, Johann, et al.
(författare)
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
- 2012
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Ingår i: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 33:6, s. 949-59
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Tidskriftsartikel (refereegranskat)abstract
- Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT.
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- Davani, Hooman A., et al.
(författare)
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Widely Electro Thermal Tunable Bulk-Micromachined MEMS-VCSEL Operating Around 850nm
- 2011
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Ingår i: Conference on Lasers and Electro-Optics/Pacific Rim, CLEOPR 2011; Sydney; Australia; 28 August 2011 through 1 September 2011. - 2162-2701. - 9780977565771 ; , s. 32-34
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Konferensbidrag (refereegranskat)abstract
- We present the highest reported continues tuning range of 37 nm and fastest electro thermal tuning speed of 700 Hz achieved with tunable vertical-cavity surface-emitting lasers (VCSEL) and semiconductor DBRs at 850 nm wavelength range.
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- Davani, Hooman A., et al.
(författare)
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Widely tunable high-speed bulk-micromachined short-wavelength MEMS-VCSEL
- 2010
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Ingår i: Semiconductor Laser Conference (ISLC), 2010 22nd IEEE International. - 0899-9406. - 9781424456833 ; , s. 9-10
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Konferensbidrag (refereegranskat)abstract
- We present the first results of a high-speed bulk-micromachined tunable vertical-cavity surface-emitting laser (VCSEL) operating near 850nm using a half-symmetric resonator with a movable curved microelectromechanical system (MEMS) membrane.
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- Orban, Istvan, et al.
(författare)
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Effects of spin-forbidden resonances on the recombination of Be-like Si and Be-like Ne
- 2011
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Ingår i: Physica Scripta. - : IOP Publishing Ltd. - 0031-8949 .- 1402-4896. ; T144, s. 014035-
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Tidskriftsartikel (refereegranskat)abstract
- Recombination through doubly excited states that can be formed only through spin-flip of the excited electrons can give very strong contributions to the recombination rate of Be-like ions. We demonstrate this, in this paper, with the electron-ion recombination spectra of Be-like Ne(6+) and Be-like Si(10+), recently measured at the CRYRING storage ring. These resonances have significant effects on the plasma rate coefficients. We show that neglect or imprecise calculation of these resonances is responsible for large spreads observed between various theoretical results from the literature.
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- Ustun, Celalettin, et al.
(författare)
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Hematopoietic stem-cell transplantation for advanced systemic mastocytosis
- 2014
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Ingår i: Journal of Clinical Oncology. - 0732-183X .- 1527-7755. ; 32:29, s. 3264-3274
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Advanced systemic mastocytosis (SM), a fatal hematopoietic malignancy characterized by drug resistance, has no standard therapy. The effectiveness of allogeneic hematopoietic stem-cell transplantation (alloHCT) in SM remains unknown.PATIENTS AND METHODS: In a global effort to define the value of HCT in SM, 57 patients with the following subtypes of SM were evaluated: SM associated with clonal hematologic non-mast cell disorders (SM-AHNMD; n = 38), mast cell leukemia (MCL; n = 12), and aggressive SM (ASM; n = 7). Median age of patients was 46 years (range, 11 to 67 years). Donors were HLA-identical (n = 34), unrelated (n = 17), umbilical cord blood (n = 2), HLA-haploidentical (n = 1), or unknown (n = 3). Thirty-six patients received myeloablative conditioning (MAC), and 21 patients received reduced-intensity conditioning (RIC).RESULTS: Responses in SM were observed in 40 patients (70%), with complete remission in 16 patients (28%). Twelve patients (21%) had stable disease, and five patients (9%) had primary refractory disease. Overall survival (OS) at 3 years was 57% for all patients, 74% for patients with SM-AHNMD, 43% for those with ASM, and 17% for those with MCL. The strongest risk factor for poor OS was MCL. Survival was also lower in patients receiving RIC compared with MAC and in patients having progression compared with patients having stable disease or response.CONCLUSION: AlloHCT was associated with long-term survival in patients with advanced SM. Although alloHCT may be considered as a viable and potentially curative therapeutic option for advanced SM in the meantime, given that this is a retrospective analysis with no control group, the definitive role of alloHCT will need to be determined by a prospective trial.
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