869 results on '"Glass I"'
Search Results
2. Hedgehog Pathway Regulates Alveolar Type II Cells in Human Lung Development
- Author
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Belgacemi, R., primary, Cherry, C., additional, Hoarau, A., additional, Glass, I., additional, Deutsch, G., additional, Dormoy, V.C.R., additional, Danopoulos, S., additional, and Al Alam, D., additional
- Published
- 2024
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3. Type I Interferon Disrupts Airway Cell Differentiation in Trisomy 21
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Cherry, C., primary, Frauenpreis, A., additional, Belgacemi, R., additional, Rehan, A., additional, Deutsch, G., additional, Glass, I., additional, Gomperts, B., additional, Al Alam, D., additional, and Danopoulos, S., additional
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- 2024
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4. IAU General Assembly – a personal account.
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Glass, I. S.
- Subjects
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SPACE environment , *PLANETARY science , *SMALL solar system bodies , *GALACTIC redshift , *VERY large telescopes , *RADIO astronomy - Published
- 2024
5. Towards stellar effective temperatures and diameters at one per cent accuracy for future surveys
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Casagrande, L., Portinari, L., Glass, I. S., Laney, D., Aguirre, V. Silva, Datson, J., Andersen, J., Nordström, B., Holmberg, J., Flynn, C., and Asplund, M.
- Subjects
Astrophysics - Solar and Stellar Astrophysics - Abstract
The apparent size of stars is a crucial benchmark for fundamental stellar properties such as effective temperatures, radii and surface gravities. While interferometric measurements of stellar angular diameters are the most direct method to gauge these, they are still limited to relatively nearby and bright stars, which are saturated in most of the modern photometric surveys. This dichotomy prevents us from safely extending well calibrated relations to the faint stars targeted in large spectroscopic and photometric surveys. Here, we alleviate this obstacle by presenting SAAO near-infrared JHK observations of 55 stars: 16 of them have interferometric angular diameters, and the rest are in common with the 2MASS (unsaturated) dataset, allowing us to tie the effective temperatures and angular diameters derived via the Infrared Flux Method to the interferometric scale. We extend the test to recent interferometric measurements of unsaturated 2MASS stars, including giants, and the metal-poor benchmark target HD122563. With a critical evaluation of the systematics involved, we conclude that a 1% accuracy in fundamental stellar parameters is usually within reach. Caution, however, must be used when indirectly testing a temperature scale via colour relations, as well as when assessing the reliability of interferometric measurements, especially at sub-milliarcsec level. As a result, rather different effective temperature scales can be compatible with a given subset of interferometric data. We highlight some caveats to be aware of in such a quest, and suggest a simple method to check against systematics in fundamental measurements. A new diagnostic combination seismic radii with astrometric distances is also presented., Comment: accepted for MNRAS, in press. Minor changes to match published version
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- 2014
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6. Mid-IR period-magnitude relations for AGB stars
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Glass, I. S., Schultheis, M., Blommaert, J. A. D. L., Sahai, R., Stute, M., and Uttenthaler, S.
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Astrophysics - Solar and Stellar Astrophysics ,Astrophysics - Galaxy Astrophysics - Abstract
Asymptotic Giant Branch variables are found to obey period-luminosity relations in the mid-IR similar to those seen at K_S (2.14 microns), even at 24 microns where emission from circumstellar dust is expected to be dominant. Their loci in the M, logP diagrams are essentially the same for the LMC and for NGC6522 in spite of different ages and metallicities. There is no systematic trend of slope with wavelength. The offsets of the apparent magnitude vs. logP relations imply a difference between the two fields of 3.8 in distance modulus. The colours of the variables confirm that a principal period with log P > 1.75 is a necessary condition for detectable mass-loss. At the longest observed wavelength, 24 microns, many semi-regular variables have dust shells comparable in luminosity to those around Miras. There is a clear bifurcation in LMC colour-magnitude diagrams involving 24 micron magnitudes., Comment: 5 pages, 4 figures
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- 2009
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7. Time services at the Cape and Sutherland Observatories.
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Glass, I. S.
- Subjects
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OBSERVATORIES , *RADIO stations , *EARTH'S orbit , *WORLD War II - Abstract
This document provides a historical overview of the time services at the Cape Observatory and Sutherland Observatory in South Africa. It mentions the use of various timekeeping devices, such as chronographs and quartz crystal oscillators, as well as the transmission of time signals to radio stations and other institutions. The document also discusses the transition to modern timekeeping systems and the role of the observatories in maintaining accurate time standards. It concludes with a brief mention of time services at other observatories in South Africa. The given text includes references to several books and reports related to astronomy in South Africa. These sources provide information on topics such as the activities of the Royal Observatory at the Cape of Good Hope, the Johannesburg Observatory, and the work of astronomers in these locations. The text does not provide any specific details or content from these sources, but rather serves as a list of references for further research. [Extracted from the article]
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- 2024
8. Interstellar Extinction and Long-Period Variables in the Galactic Center
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Schultheis, M., Sellgren, K., Ramirez, S., Stolovy, S., Ganesh, S., Glass, I. S., and Girardi, L.
- Subjects
Astrophysics - Abstract
We use the Spitzer IRAC catalogue of the Galactic Center (GC) point sources (Ramirez et al. 2008) and combine it with new isochrones (Marigo et al. 2008) to derive extinctions based on photometry of red giants and asymptotic giant branch (AGB) stars. This new extinction map extends to much higher values of Av than previoulsy available. Our new extinction map of the GC region covers 2.0 x 1.4 degree (280 x 200 pc at a distance of 8 kpc). We apply it to deredden the LPVs found by Glass et al. (2001) near the GC. We make period-magnitude diagrams and compare them to those from other regions of different metallicity. The Glass-LPVs follow well-defined period-luminosity relations (PL) in the IRAC filter bands at 3.6, 4.5, 5.8, and 8.0 micron. The period-luminosity relations are similar to those in the Large Magellanic Cloud, suggesting that the PL relation in the IRAC bands is universal. We use ISOGAL data to derive mass-loss rates and find for the Glass-LPV sample some correlation between mass-loss and pulsation period, as expected theoretically.The GC has an excess of high luminosity and long period LPVs compared to the Bulge, which supports previous suggestions that it contains a younger stellar population., Comment: 12 pages, 11 figures accepted for publication in Astronomy & Astrophysics
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- 2008
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9. Semi-Regular Variables in the Solar Neighbourhood
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Glass, I. S. and van Leeuwen, F.
- Subjects
Astrophysics - Abstract
Period-luminosity sequences have been shown to exist among the Semi-Regular Variables (SRVs) in the Magellanic Clouds (Wood et al, 1999), the Bulge of the Milky Way galaxy (Glass & Schultheis, 2003) and elsewhere. Using modern period and revised Hipparcos parallax data, this paper demonstrates that they also appear among the M-giant SRVs of the Solar Neighbourhood. Their distribution in the K, log P diagram resembles that of Bulge stars more closely than those in the Magellanic Clouds. The prevalence of mass-loss among local M-type SRVs and its dependence on period and spectral sub-type are also discussed. K -- [12], a measure of circumstellar dust emission, increases clearly with V amplitude, M giant sub-type and log P., Comment: MNRAS (accepted)
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- 2007
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10. SRVs in the Solar Neighbourhood
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Glass, I. S.
- Subjects
Astrophysics - Abstract
Period-luminosity sequences have been shown to exist among the Semi-Regular Variables (SRVs) of the Magellanic Clouds (Wood et al, 1999), the Bulge of the Milky Way galaxy (Glass & Schultheis, 2003) and elsewhere. It would clearly be useful to have absolute (trigonometric) calibrations of these relations. This paper investigates whether the sequences can be seen among the M-type giant SRVs of the solar neighbourhood. Mass loss phenomena among these stars and their dependence on period and spectral sub-type are also discussed., Comment: 2 pages, 3 figures
- Published
- 2006
11. Recent star formation in the inner Galactic Bulge seen by ISOGAL. I - Classification of bright mid-IR sources in a test field
- Author
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Schuller, F., Omont, A., Glass, I. S., Schultheis, M., Egan, M. P., and Price, S. D.
- Subjects
Astrophysics - Abstract
Context: The stellar populations in the central region of the Galaxy are poorly known because of the high visual extinction and very great source density in this direction. Aims: To use recent infrared surveys for studying the dusty stellar objects in this region. Methods: We analyse the content of a 20x20 arcmin^2 field centred at (l,b)=(-0.27,-0.06) observed at 7 and 15 microns as part of the ISOGAL survey. These ISO observations are more than an order of magnitude better in sensitivity and spatial resolution than the IRAS observations. The sources are cross-associated with other catalogues to identify various types of objects. We then derive criteria to distinguish young objects from post-main sequence stars. Results: We find that a sample of about 50 young stellar objects and ultra-compact HII regions emerges, out of a population of evolved AGB stars. We demonstrate that the sources colours and spatial extents, as they appear in the ISOGAL catalogue, possibly complemented with MSX photometry at 21 microns, can be used to determine whether the ISOGAL sources brighter than 300 mJy at 15 microns (or [15] < 4.5 mag) are young objects or late-type evolved stars., Comment: 15 pages, 12 figures. Accepted for publication in Astronomy and Astrophysics
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- 2006
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12. Late-type giant variables in NGC6522, LMC and SMC: How do they differ?
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Schultheis, M., Glass, I. S., and Cioni, M. -R.
- Subjects
Astrophysics - Abstract
Complete samples of 2MASS stars in 3 fields of differing metallicities (and possibly differing age distributions) have been extracted and cross-correlated with MACHO and ISO data to determine their variability and mass-loss properties. In each M_K histogram a fall-off in numbers is seen above the tip of the RGB. The luminosity of the tip increases with metallicity as does the average J-K at given M_K. The proportion of stars with high H-K increases at lower metallicities. This results from the increasing proportion of C stars. All 3 fields contain similar types of variables, mainly short-period, Mira-like and double-period (having long and short periods). The proportion of variable stars decreases at lower metallicities and the minimum period associated with a given amplitude gets longer. Various trends are seen in the K, log P diagrams of each field. The Magellanic Cloud fields largely resemble each other but the Bulge field is noticeably different. The stars that follow the 'A' K,log P relation in the Bulge hardly extend beyond the M giant tip and the other groups also appear truncated in M_K relative to their Magellanic Cloud counterparts. In the Clouds there are many stars with periods around 200-300d that follow the 'C' or Mira relation but have relatively small amplitudes. The mid-IR sample detected by ISOCAM during the Magellanic Cloud Mini-Survey appears to be reliable and complete for sources with M_K more luminous than -7 mag, i.e., for those close to the top of the AGB. The various colour-colour and colour-magnitude diagrams reflect the increasing dominance of C stars at low metallicity. Mira magnitude vs log P relations exist up to at least 7 microns. Mass-loss from longer-period and double-period SRVs occurs at similar rates in each field, despite differences in metallicity., Comment: 14 pages, 16 figures, A&A accepted, better resolution available from ftp://ftp.saao.ac.za/pub/isg
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- 2004
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13. SiO Maser Survey of IRAS Sources in the Inner Galactic Disk
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Deguchi, S., Fujii, T., Glass, I. S., Imai, H., Ita, Y., Izumiura, H., Kameya, O., Miyazaki, A., Nakada, Y., and Nakashima, J.
- Subjects
Astrophysics - Abstract
We have surveyed 401 color selected IRAS sources in the Galactic disk in the SiO J=1--0 v= 1 and 2 maser lines at 43 GHz, resulting in 254 (239 new) detections. The observed sources lie mostly in a strip of the inner Galactic disk with boundaries -10
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- 2004
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14. SiO Maser Survey of the Large-Amplitude Variables in the Galactic Center
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Deguchi, S., Imai, H., Fujii, T., Glass, I. S., Ita, Y., Izumiura, H., Kameya, O., Miyazaki, A., Nakada, Y., and Nakashima, J.
- Subjects
Astrophysics - Abstract
We have surveyed ~400 known large-amplitude variables within 15' of the galactic center in the SiO J=1--0 v=1 and 2 maser lines at 43 GHz, resulting in 179 detections. SiO lines were also detected from 16 other resulting in 180 detections. SiO lines were also detected from 16 other sources, which are located within 20" (the telescope half beamwidth) of the program objects. The detection rate of 48 percent is comparable to that obtained in Bulge IRAS source surveys. Among the SiO detections, five stars have radial velocities greater than 200 km/s. The SiO detection rate increases steeply with the period of light variation, particularly for stars with P>500 d, where it exceeds 80%. We found that, at a given period, the SiO detection rate is approximately three times that for OH. These facts suggest that the large-amplitude variables in the Nuclear Disk region are AGB stars similar in their overall properties to the inner and outer Bulge IRAS/SiO sources. From the set of radial velocity data, the mass distribution within 30 pc of the galactic center is derived by a new method which is based on the collisionless Boltzmann equation integrated along the line of sight. The mass within 30 pc is about 6.4 [\pm 0.7] \times 10^7 M_{\odot} and the mass of the central black hole is 2.7 [\pm 1.3] \times 10^6 M_{\odot}. Consideration of the line-of-sight velocity of each star and its potential energy leads to the conclusion that the five high-velocity stars come from galactocentric distances as high as 300 pc. The high-velocity subsample of stars with negative radial velocities exhibits a tendency to have brighter K magnitudes than the subsample of stars with positive velocities. The origin of these high-velocity stars is discussed., Comment: Hires. figures are available as No.604 of NRO report at http://www.nro.nao.ac.jp/library/report/list.html . PASJ 56 (april 28 issue) in press
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- 2004
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15. Long-term IR Photometry of Seyferts
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Glass, I. S.
- Subjects
Astrophysics - Abstract
Long-term (up to 10000d) monitoring has been undertaken for 41 Seyferts in the near-IR (JHKL). All but 2 showed variability, with K ampl in the range <0.1 to > 1.1 mags. The timescale for detectable change is from about one week to a few years. A simple cross-correlation study shows evidence for delays of up to several hundred days between the variations seen at the shortest wavelengths and the longest in many galaxies. In particular, the data for F9 now extend to twice the interval covered earlier and the delay between its UV and IR outputs persists. An analysis of the fluxes shows that, for any given galaxy, the colours of the variable component are usually independent of the level of activity. The state of activity can be parameterized. Taken over the whole sample, the colours of the variable components fall within moderately narrowly defined ranges. In particular, the H-K colour is appropriate to a black body of temperature 1600K. The H-K excess for a heavily reddened nucleus can be determined and used to find E_{B-V}, which can be compared to the values found from the visible region broad line fluxes. Using flux-flux diagrams, the flux within the aperture from the underlying galaxy can often be determined without the need for model surface brightness profiles. In many galaxies it is apparent that here must be an additional constant contribution from warm dust., Comment: Better quality available from ftp://ftp.saao.ac.za/pub/isg/seyf.pdf
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- 2004
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16. Period-magnitude relations for M giants in Baade's Window NGC6522
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Glass, I. S. and Schultheis, M.
- Subjects
Astrophysics - Abstract
A large and complete sample of stars with K < 9.75 in the NGC6522 Baade's Window is examined using light curves from MACHO and IJK from DENIS. All 4 of the sequences ABCD in the K vs logP diagram of the LMC are seen in the Bulge. The Bulge sequences however show some differences from the Magellanic Clouds. The sequences may be useful as distance indicators. A new diagram of the frequency of late-type variables is presented. The catalogued SR variables of the solar nbd are found to be a subset of the total of SRs, biased towards large amplitude., Comment: 11 pages 11 figs
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- 2003
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17. ISOGAL: A deep survey of the obscured inner Milky Way with ISO at 7 and 15 micron and with DENIS in the near-infrared
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Omont, A., Gilmore, G., Alard, C., Aracil, B., August, T., Baliyan, K., Blommaert, J., Borsenberger, J., Burgdorf, M., Cesarsky, C., de Batz, B., Egan, M., Egret, D., Epchtein, N., Felli, M., Fouque, P., Ganesh, S., Glass, I., Gredel, R., Groenewegen, M., Habing, H. J., Hennebelle, P., Jiang, B., Joshi, U., Messineo, M., Miville-Deschenes, M. A., Moneti, A., Ojha, D., Ortiz, R., Ott, S., Perault, M., Price, S., Robin, A., Schultheis, M., Schuller, F., Simon, G., Testi, L., Teyssier, D., van Loon, J., and Wyse, R.
- Subjects
Astrophysics - Abstract
The ISOGAL project is an infrared survey of specific regions sampling the Galactic Plane selected to provide information on Galactic structure,stellar populations,stellar mass-loss and the recent star formation history of the inner disk and Bulge of the Galaxy. ISOGAL combines 7 and 15 micron ISOCAM observations - with a resolution of 6'' at worst - with DENIS IJKs data to determine the nature of the sources and theinterstellar extinction. We have observed about 16 square degrees with a sensitivity approaching 10-20mJy, detecting ~10^5 sources,mostly AGB stars,red giants and young stars. The main features of the ISOGAL survey and the observations are summarized in this paper,together with a brief discussion of data processing and quality. The primary ISOGAL products are described briefly (a full description is given in Schuller et al. 2003, astro-ph/0304309): viz. the images and theISOGAL-DENIS five-wavelength point source catalogue. The main scientific results already derived or in progress are summarized. These include astrometrically calibrated 7 and 15um images,determining structures of resolved sources; identification and properties of interstellar dark clouds; quantification of the infrared extinction law and source dereddening; analysis of red giant and (especially) AGB stellar populations in the central Bulge,determining luminosity,presence of circumstellar dust and mass--loss rate,and source classification,supplemented in some cases by ISO/CVF spectroscopy; detection of young stellar objects of diverse types,especially in the inner Bulge with information about the present and recent star formation rate; identification of foreground sources with mid-IR excess. These results are the subject of about 25 refereed papers published or in preparation., Comment: A&A in press. 19 pages,10 Ps figures; problems with figures fixed
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- 2003
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18. Infrared stellar populations in the central parts of the Milky Way galaxy
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van Loon, Jacco Th., Gilmore, G. F., Omont, A., Blommaert, J. A. D. L., Glass, I. S., Messineo, M., Schuller, F., Schultheis, M., Yamamura, I., and Zhao, H. S.
- Subjects
Astrophysics - Abstract
Near- and mid-IR survey data from DENIS and ISOGAL are used to investigate the structure and formation history of the inner 10 degree (1.4 kpc) of the Milky Way galaxy. Synthetic bolometric corrections and extinction coefficients in the near- and mid-IR are derived for stars of different spectral types, to allow the transformation of theoretical isochrones into observable colour-magnitude diagrams. The observed IR colour-magnitude diagrams are used to derive the extinction, metallicity and age for individual stars. The inner galaxy is dominated by an old population (> 7 Gyr). In addition, an intermediate-age population (200 Myr to 7 Gyr) is detected, which is consistent with the presence of a few hundred Asymptotic Giant Branch stars with heavy mass loss. Furthermore, young stars (< 200 Myr) are found across the inner Bulge. The metallicities of these stellar population components are discussed. These results can be interpreted in terms of an early epoch of intense star formation and chemical enrichment which shaped the bulk of the Bulge and nucleus, and a more continuous star formation history which gradually shaped the disk from the accretion of sub-solar metallicity gas from the halo. A possible increase in star formation about 200 Myr ago might have been triggered by a minor merger. Ever since the formation of the first stars, mechanisms have been at play that mix the populations from the nucleus, Bulge and disk. Luminosity functions across the inner galactic plane indicate the presence of an inclined (bar) structure at > 1 kpc from the galactic centre, near the inner Lindblad resonance. The innermost part of the Bulge, within about 1 kpc from the galactic centre, seems azimuthally symmetric., Comment: (25 pages, 31 figures, includes mn2e.cls; better quality figures 5, 13 and 21 available on request from Jacco: jacco@astro.keele.ac.uk) Accepted for publication in MNRAS
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- 2002
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19. M giants in Macho, DENIS and Isogal
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Glass, I. S. and Schultheis, M.
- Subjects
Astrophysics - Abstract
A complete sample of 174 M giants classified by Blanco (1986) and later than subtype M0 in the NGC6522 Baade's Window clear field has been investigated to establish some general properties of cool Bulge stars. Photometric information has been obtained from the MACHO database to search for variability and, where possible, to determine periods. Near- and mid-IR magnitudes have been extracted from DENIS and ISOGAL. 46 semi-regular variables and 2 irregulars were found a mongst the 174. Many M5 and all stars M6 or later show variation, whereas earlier subtypes do not. The DENIS I-J and J-K_S colours and the luminosities of the M stars increase with M sub-class. K tends to increase with log P among M-type SR variables. Almost all the variables were detected at 7 microns during the ISOGAL programme. Excess radiation at 15 microns, indicative of heavy mass loss, is associated with very high luminosity and late spectral type. The limit of sensitivity of the ISOGAL survey was such that the non-variables were not detected. Four probable M stars not listed by Blanco (1986), two of which are semi-regular variables, were detected by ISOGAL. In the case of doubly-periodic SR variables, the longer periods have K mags which place them close to the D line of Wood (2000) in a K,log P diagram. The unusual MACHO light curve of one particular star, Blanco 26, shows the commencement of a long-period variation with an anomalously short and sharp event and appears to rule out a pulsational model for this phenomenon., Comment: 10 pages
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- 2002
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20. Detections of SiO Masers from the Large-Amplitude Variables in the Galactic Nuclear Disk
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Imai, H., Deguchi, S., Fujii, T., Glass, I. S., Ita, Y., Izumiura, H., Kameya, O., Miyazaki, A., Nakada, Y., and Nakashima, J.
- Subjects
Astrophysics - Abstract
We have surveyed known large-amplitude variables within 15' of the Galactic center in the SiO J=1-0 v=1 and 2 maser lines at 43 GHz, resulting in 79 detections and 58 non-detections. The detection rate of 58 percent is comparable to that obtained in Bulge IRAS source surveys. SiO lines were also detected from four other sources near the program objects. The SiO detection rate increases steeply with the period, particularly for stars with P>500 d, where it exceeds 80%. We found at a given period that the SiO detection rate is approximately double that for OH. These facts suggest that the large-amplitude variables in the Nuclear Disk region are AGB stars similar in their overall properties to the inner and outer bulge IRAS/SiO sources., Comment: 5 pages, 2 figures, 1 Table. PASJ 54, No 2 April 25 issue in press
- Published
- 2002
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21. AGB variables in Baade's windows
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Schultheis, M. and Glass, I. S.
- Subjects
Astrophysics - Abstract
In this work, a sample of luminous M-type giants in the Baade's Windows towards the inner Galactic Bulge is investigated in the near-infrared. The ISOGAL survey at 7 and 15 micron has given information concerning the mass-loss rates of these stars and their variability characteristics have been extracted from the MACHO database. Most are known to be semi-regular variables (SRVs). Here we discuss how their IJHK-region colours depend on period and the presence or absence of mass-loss, using results mainly taken from the DENIS and 2MASS surveys. In order to compare their colours with solar neighbourhood stars, photometric colours on the DENIS, 2MASS and ESO photometric systems have been synthesized for objects in the spectrophotometric atlas of Lancon and Wood (2000). In addition, they have been used to predict the differences in colour indicies when stars with strong molecular bands are observed using different photometric systems. The SRVs are found to inhabit the upper end of the J-K, K colour-magnitude diagram, lying just below the Miras. High mass-loss rates are associated with high luminosity. The near-infrared colours of the semi-regular variables increase in a general way with period and are reddest for the stars with significant mass-loss. The average colours of Mira variables, whose periods start at around 200 days in the Bulge, are bluer than those of the semi-regulars at this period, particularly in J-H, thanks to the association of deep water-vapour bands with large amplitude., Comment: 8 pages, 17 Postscript figures, accepted for publication in MNRAS
- Published
- 2001
22. The Nature of the Nuclear H2O Masers of NGC 1068: Reverberation and Evidence for a Rotating Disk Geometry
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Gallimore, J. F., Henkel, C., Baum, S. A., Glass, I. S., Claussen, M. J., Prieto, M. A., and von Kap-Herr, A.
- Subjects
Astrophysics - Abstract
We report new (1995) Very Large Array observations and (1984 - 1999) Effelsberg 100m monitoring observations of the 22 GHz H2O maser spectrum of the Seyfert 2 galaxy NGC 1068. The sensitive VLA observations provide a registration of the 22 GHz continuum emission and the location of the maser spots with an accuracy of ~ 5 mas. Within the monitoring data, we find evidence that the nuclear masers vary coherently on time-scales of months to years, much more rapidly than the dynamical time-scale. We argue that the nuclear masers are responding in reverberation to a central power source, presumably the central engine. Between October and November 1997, we detected a simultaneous flare of the blue-shifted and red-shifted satellite maser lines. Reverberation in a rotating disk naturally explains the simultaneous flaring. There is also evidence that near-infrared emission from dust grains associated with the maser disk also responds to the central engine. We present a model in which an X-ray flare results in both the loss of maser signal in 1990 and the peak of the near-infrared light curve in 1994. In support of a rotating disk geometry for the nuclear masers, we find no evidence for centripetal accelerations of the redshifted nuclear masers; the limits are +/- 0.006 km/s/year, implying that the masers are located within 2 degrees of the kinematic line-of-nodes. We also searched for high velocity maser emission like that observed in NGC 4258. In both VLA and Effelsberg spectra, we detect no high velocity lines between +/- 350 km/s to +/- 850 km/s relative to systemic, arguing that masers only lie outside a radius of ~ 0.6 pc (1.9 light years) from the central engine (assuming a distance of 14.4 Mpc)., Comment: 62 pages, 19 figures
- Published
- 2001
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23. Mass-Losing Semiregular Variable Stars in Baade's Windows
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Alard, C., Blommaert, J., Cesarsky, C., Epchtein, N., Felli, M., Fouque, P., Ganesh, S., Genzel, R., Gilmore, G., Glass, I., Habing, H., Omont, A., Perault, M., Price, S., Robin, A., Schultheis, M., Simon, G., van Loon, J., Alcock, C., Allsman, R., Alves, D., Axelrod, T., Becker, A., Bennett, D., Cook, K., Drake, A., Freeman, K., Geha, M., Griest, K., Lehner, M., Marshall, S., Minniti, D., Nelson, C., Peterson, B., Popowski, P., Pratt, M., Quinn, P., Sutherland, W., Tomaney, A., Vandehei, T., and Welch, D.
- Subjects
Astrophysics - Abstract
By cross-correlating the results of two recent large-scale surveys, the general properties of a well defined sample of semi-regular variable stars have been determined. ISOGAL mid-infrared photometry and MACHO lightcurves are assembled for approximately 300 stars in the Baade's Windows of low extinction towards the Galactic bulge. These stars are mainly giants of late M spectral type, evolving along the asymptotic giant branch (AGB). They are found to possess a wide and continuous distribution of pulsation periods and to obey an approximate log~period -- bolometric magnitude relation or set of such relations. Approximate mass-loss rates in the range of 1e-8 to 5e-7 M_sun per year are derived from ISOGAL mid-infrared photometry and models of stellar spectra adjusted for the presence of optically-thin circumstellar silicate dust. Mass-loss rates depend on luminosity and pulsation period. Some stars lose mass as rapidly as short-period Miras but do not show Mira-like amplitudes. A period of 70 days or longer is a necessary but not a sufficient condition for mass loss to occur. For AGB stars in the mass-loss ranges that we observe, the functional dependence of mass-loss rate on temperature and luminosity is found to be in agreement with recent theoretical predictions. If we include our mass-loss rates with a sample of extreme mass-losing AGB stars in the Large Magellanic Cloud, we get the general result for AGB stars that mass-loss rate is proportional to luminosity^{2.7}, valid for AGB stars with 10^{-8} to 10^{-4} M_sun per year (Abridged)., Comment: to appear in The Astrophysical Journal, 51 pages, 9 figures, 3 tables; table 1 will be available in machine-readable format at the electronic ApJ
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- 2001
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24. The 0.1-200 keV spectrum of the blazar PKS 2005-489 during an active state
- Author
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Tagliaferri, G., Ghisellini, G., Giommi, P., Celotti, A., Chiaberge, M., Chiappetti, L., Glass, I. S., Maraschi, L., Tavecchio, F., Treves, A., and Wolter, A.
- Subjects
Astrophysics - Abstract
The bright BL Lac object PKS 2005-489 was observed by BeppoSAX on November 1-2, 1998, following an active X-ray state detected by RossiXTE. The source, detected between 0.1 and 200 keV, was in a very high state with a continuum well fitted by a steepening spectrum due to synchrotron emission only. Our X-ray spectrum is the flattest ever observed for this source. The different X-ray spectral slopes and fluxes, as measured by various satellites, are consistent with relatively little changes of the peak frequency of the synchrotron emission, always located below 10^{17} Hz. We discuss these results in the framework of synchrotron self-Compton models. We found that for the BeppoSAX observation, the synchrotron peak frequency is between 10^{15} and 2.5x10^{16} Hz, depending on the model assumptions., Comment: 7 pages, 4 figures, accepted for publication in A&A
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- 2000
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25. ISOGAL-DENIS detection of red giants with weak mass loss in the Galactic Bulge
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Omont, A., Ganesh, S., Alard, C., Blommaert, J. A. D. L., Caillaud, B., Copet, E., Fouque, P., Gilmore, G., Ojha, D., Schultheis, M., Simon, G., Bertou, X., Borsenberger, J., Epchtein, N., Glass, I., Guglielmo, F., Groenewegen, M. A. T., Habing, H. J., Kimeswenger, S., Morris, M., Price, S. D., Robin, A., Unavane, M., and Wyse, R.
- Subjects
Astrophysics - Abstract
The ISOGAL project is a survey of the stellar populations, structure, and recent star formation history of the inner disk and bulge of the Galaxy. ISOGAL combines 15 and 7micron ISOCAM observations with DENIS IJKs data to determine the nature of a source and the interstellar extinction. In this paper we report an ISOGAL study of a small field in the inner Galactic Bulge (l=0deg, b=1.0deg, area=0.035 sq. deg) as a prototype of the larger area ISOGAL survey of the inner Galaxy. The five wavelengths of ISOGAL+DENIS, together with the relatively low and constant extinction in front of this specific field, allow reliable determination of the nature of the sources. The primary scientific result of this paper is evidence that the most numerous class of ISOGAL 15micron sources are Red Giants in the Galactic bulge and central disk, with luminosities just above or close to the RGB tip and weak mass-loss rates. They form loose sequences in the magnitude-colour diagrams [15]/Ks-[15] and [15]/[7]-[15]. Their large excesses at 15micron with respect to 2micron and 7micron is due to circumstellar dust produced by mass-loss at low rates. These ISOGAL results are the first systematic evidence and study of dust emission at this early stage (''Intermediate'' AGB), before the onset of the large mass-loss phase. It is thus well established that efficient dust formation is already associated with such low mass-loss rates during this early phase., Comment: 15 pages, 9 figures, accepted for publication in Astronomy and Astrophysics Journal
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- 1999
26. The blazar PKS 0528+134: new results from BeppoSAX observations
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Ghisellini, G., Costamante, L., Tagliaferri, G., Maraschi, L., Celotti, A., Fossati, G., Pian, E., Comastri, A., De Francesco, G., Lanteri, L., Raiteri, C. M., Villata, G. Sobrito M., Glass, I. S., Grandi, P., Padovani, P., Perola, C., and Treves, A.
- Subjects
Astrophysics - Abstract
BeppoSAX observed 8 times the gamma-ray bright blazar PKS 0528+134 in Feb. and Mar. 1997, during a multiwavelength campaign involving EGRET, onboard CGRO, and ground based telescopes. The source was in its faintest X-ray state observed so far, with an unabsorbed [2-10] keV flux of 2.5E-12 erg/cm2/s. The spectrum can be fitted with a power law, with energy index alpha_X=0.49+-0.07 between 0.1 and 10 keV. The high energy instrument PDS detected a flux in the 15-100 keV band which appears disconnected from the lower X-ray energies, most likely due to a contaminating source. We consider our findings in the context of the overall spectral energy distribution and discuss their implications for synchrotron and inverse Compton models., Comment: 9 pages, 6 figures, accepted for publication in A&A
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- 1999
27. ISOGAL Survey of Baade's Windows in the Mid-infrared
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Glass, I. S, Ganesh, S., Alard, C., Blommaert, J. A. D. L., Gilmore, G., Evans, T. Lloyd, Omont, A., Schultheis, M., and Simon, G.
- Subjects
Astrophysics - Abstract
The ISOGAL mid-infrared survey of areas close to the Galactic Plane aims to determine their stellar content and its possible bearing on the history of the Galaxy. The NGC6522 and Sgr I Baade's Windows of low obscuration towards the inner parts of the Bulge represent ideal places in which to calibrate and understand the ISOGAL colour-magnitude diagrams. The survey observations were made with the ISOCAM instrument of the ISO satellite. The filter bands chosen were LW2(~7 microns) and LW3(~15 microns). The results presented here show that most of the detected objects are late M-type giants on the AGB, with a cut-off for those earlier than M3-M4. The most luminous members of these two Bulge fields at 7 microns are the Mira variables. However, it is evident that they represent the end of a sequence of increasing 15 micron dust emission which commences with M giants of earlier sub-type. In observations of late-type giants the ISOCAM 15 micron band is mainly sensitive to the cool silicate or aluminate dust shells which overwhelm the photospheric emission. However, in ordinary M-giant stars, the 7 micron band is not strongly affected by dust emission and may be influenced instead by absorption. The nu2 band of water at 6.25 microns and the SiO fundamental at 7.9 microns are likely contribitors to this effect. A group of late M stars has been found which vary little or not at all but have infrared colours typical of well-developed dust shells. Their luminosities are similar to those of 200-300 day Miras but they have slightly redder [7]-[15] colours which form an extension of the ordinary M giant sequence. The Mira dust shells show a mid-infrared [7]-[15] colour-period relation. ca 700 days., Comment: 13 pages 15 figures
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- 1999
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28. Multiwavelength Observations of a Seyfert 1 Galaxy Detected in ACO 3627
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Woudt, P. A., Kraan-Korteweg, R. C., Fairall, A. P., Bohringer, H., Cayatte, V., and Glass, I. S.
- Subjects
Astrophysics - Abstract
ACO 3627 is a rich, nearby cluster of galaxies at the core of the Great Attractor. At the low galactic latitude of b = -7.2 the galactic extinction is significant. Nevertheless, its proximity makes it a prime target for studies of environmental effects on its cluster members. Here, we report on a multi-wavelength study of a Seyfert 1 galaxy at 30 arcminutes from the centre of ACO 3627. Its Seyfert nature was discovered spectroscopically and confirmed in X-rays. We have obtained B_J and R_C CCD photometry as well as J, H, K and L aperture photometry at the SAAO, low and high resolution spectroscopy (ESO and SAAO), 21 cm line observations (Parkes Observatory) and X-ray ROSAT PSPC data. The Seyfert 1 galaxy is of morphology SBa(r). It has a nearby companion (dS0) but shows no signs of interaction. A consistent value for the galactic extinction of A_B = 1.6 mag could be determined. The nucleus of the Seyfert is very blue with a strong (B_J - R_C) colour gradient in the inner 2.5 arcsec. The extinction-corrected near-infrared colours of WKK 6092 are typical of a Seyfert 1 and the X-ray spectrum conforms to the expectation of a Seyfert as well. The galaxy has a very low HI flux. This could be explained by its morphology, but also -- due to its very central position within the rich Norma cluster -- to ram pressure stripping., Comment: Accepted for publication in Astronomy & Astrophysics. 7 pages, LaTex, 6 encapsulated postscript figures, requires l-aa.sty and epsf.sty. Original figures are available upon request (E-mail: pwoudt@eso.org)
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- 1998
29. CO in blue compact and star burst galaxies
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Gondhalekar, P. M., Johansson, L. E. B., Brosch, N., Glass, I. S., and Brinks, E.
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Astrophysics - Abstract
$^{12}CO(J=1 \to 0)$ observations of 34 blue compact and star burst galaxies are presented. Although these galaxies are experiencing vigorous star formation at the current epoch, CO has been detected in only five of them. The five detections reported in this paper are all in galaxies with relatively red colours, (B-V)_0 > 0.4. The new observations, when combined with previously published data on CO in BCGs, indicate that CO luminosity decreases with absolute luminosity of BCGs. Since the absolute luminosity of a galaxy is correlated with its metallicity, these results confirm that low metallicity BCGs have low abundances of CO gas. We also show that the star formation rate determined from the $H_{\beta}$ luminosity is lower than that determined from the far infrared luminosity., Comment: 10 pages, 2 postscript figures, A&A style, to be published by Astronomy and Astrophysics
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- 1998
30. BeppoSAX observations of PKS 0528+134
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Ghisellini, G., Tagliaferri, G., Costamante, L., Maraschi, L., Celotti, A., Fossati, G., Bassani, L., Cappi, M., Frontera, F., Pian, E., Comastri, A., Cavallone, M., De Francesco, G., Lanteri, L., Raiteri, C. M., Sobrito, G., Villata, M., Giarrusso, S., Sacco, B., Glass, I. S., Grandi, P., Massaro, E., Molendi, S., Padovani, P., Palumbo, G. G. C., Perola, C., Salvati, M., and Treves, A.
- Subjects
Astrophysics - Abstract
We report on the BeppoSAX observations of the gamma-ray blazar PKS 0528+134 performed in Feb and Mar 1997, during a multiwavelength campaign involving EGRET and ground based telescopes. The source was in a faint and hard state, with energy spectral index alpha=0.48+-0.04 between 0.1 and 10 keV, and [2-10] keV flux of 2.7E-12 erg/cm2/s. No significant variability was observed. The source was detected in the 20-120 keV band by the PDS, with a flux lying slightly above the extrapolation from lower X-ray energies. Comparing this low state with previous higher states of the source, there is an indication that the X-ray spectrum hardens and the gamma-ray spectrum steepens when the source is fainter., Comment: 4 pages, LateX, 5 figures (included). Uses espcrc2.sty and epsf.sty (included). To appear in The Active X-ray Sky: Results from BeppoSAX and Rossi-XTE, Rome, Italy, 21-24 October, 1997. Eds.: L. Scarsi, H. Bradt, P. Giommi and F. Fiore
- Published
- 1997
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31. An Endangered National Heritage Site - The Cape Observatory.
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Glass, I. S.
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- *
CULTURAL property , *HISTORIC sites , *OBSERVATORIES - Abstract
The SAAO Cape Town campus was declared a National Heritage Site in December 2018, just short of its 200th anniversary, but is now in a run-down condition. As the former Royal Observatory, it is the oldest scientific institution in South Africa and probably in all Africa. It has a fascinating and well-documented history and surely deserves better. For many years maintenance has been neglected and many of the old telescopes and buildings are in a poor state. They are beginning to show signs of serious decay. Some examples are given. [ABSTRACT FROM AUTHOR]
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- 2023
32. Multi-Frequency Monitoring of the Seyfert 1 Galaxy NGC~4593 II: a Small, Compact Nucleus ?
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Santos-Lleo, M., Clavel, J., Barr, P., Glass, I. S., Pelat, D., Peterson, B. M., and Reichert, G.
- Subjects
Astrophysics - Abstract
We discuss the results of a campaign to monitor spectral variations in the low-luminosity Seyfert~1 galaxy NGC~4593, at X-rays, ultraviolet, optical and near IR frequencies. The observations and data analysis have been described in a companion paper (Santos-Lle\'o et al. 1994; Paper~1). The active nucleus in this galaxy is strongly and rapidly variable in all wavebands, implying that the continuum source is unusually compact. Its energy distribution from 1.2~$\mu$m to 1200~\AA\/ obeys a power-law whose index is significantly steeper than is usual in Seyfert's or QSO's; the ``big bump'' is either absent or shifted to wavelengths shorter than 1200~\AA\/. The variations of the soft-X~ray {\em excess\/} do not correlate with those of the UV or hard X-ray continuum. The far UV and optical fluxes are well correlated, while the correlation between the hard X-rays and 1447 \AA\ continuum is only marginally significant. Moreover, the optical flux cannot lag behind the UV by more than 6 days. These results cannot be accommodated in the framework of the standard geometrically thin accretion disk model. Rather, they suggest that the bulk of the UV and optical flux originates from thermal reprocessing of X-rays irradiating the disk. The soft X-ray excess is probably the only spectral component which originates from viscous dissipation inside the disk and the near infrared is probably emitted by hot dust heated by the UV radiation. Such a model is consistent with NGC~4593 having a relatively small black-hole mass of the order of $2\times10^{6}{\rm M_{\odot}}$ as inferred from the line variability study. The high ionization/excitation emission lines are very broad and strongly variable and their variations correlate with those of the continuum. The low excitation lines are significantly narrower and remain constant within the accuracy of our measurements. These results suggest a stratified BLR, where the degree of ionization and the velocity dispersion of the gas increase toward small radii. The \lya\ line responds to the variations of the continuum with a delay $\leq 4$ days. To a first order approximation, the BLR in NGC~4593 is well modelled with two different zones at distances of $\sim$~15 and 3 lt-ds from the ionizing source respectively., Comment: 36 pages, postscript, compressed. tables included; Figures available upon request. MNRAS in press.
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- 1995
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33. The Role of Type I Interferon on Trisomy 21 Endothelial Angiogenesis
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Frauenpreis, A., primary, Hoarau, A., additional, Bhattacharya, S., additional, Glass, I., additional, Deutsch, G., additional, Mariani, T.J., additional, Al Alam, D., additional, and Danopoulos, S., additional
- Published
- 2023
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34. Effect of Cannabinoids and Nicotine on Prenatal Human Lung​ Development
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El Alam, I., primary, Belgacemi, R., additional, Glass, I., additional, Danopoulos, S., additional, and Al Alam, D., additional
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- 2023
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35. Transcriptional Characterization Suggests Dysregulated Mesenchymal ECM Production Is Associated With Compromised Branching in Trisomy 21 Lungs
- Author
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Bhattacharya, S., primary, Cherry, C., additional, Deutsch, G., additional, Glass, I., additional, Mariani, T.J., additional, Al Alam, D., additional, and Danopoulos, S., additional
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- 2023
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36. Altered Differentiation of Proximal Airway Epithelium in Trisomy 21
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Cherry, C., primary, Belgacemi, R., additional, Deutsch, G., additional, Glass, I., additional, Al Alam, D., additional, and Danopoulos, S., additional
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- 2023
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37. Cellular Senescence Is Associated With Trisomies During Lung Development
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Belgacemi, R., primary, Cherry, C., additional, Danopoulos, S., additional, Glass, I., additional, Deutsch, G., additional, Prakash, Y.S., additional, Pabelick, C.M., additional, and Al Alam, D., additional
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- 2023
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38. THE FIRST PHOTOGRAPHS MADE AT THE CAPE OF GOOD HOPE.
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Glass, I. S.
- Subjects
- *
ASTRONOMICAL instruments , *PHOTOGRAPHS , *OBSERVATORIES - Abstract
The first photographs taken at the Cape of Good Hope (and therefore South Africa) date from 1843 and were due to Charles Piazzi Smyth, Chief Assistant at the Royal Observatory, Cape. His surviving positives and negatives are gathered here with descriptions of their subjects. They are mainly of the Royal Observatory, Cape of Good Hope, of a Magnetic Observatory on the same site that no longer exists, and of various buildings in Cape Town. However, they also include the first photographic portraits made at the Cape and images of two astronomical instruments. [ABSTRACT FROM AUTHOR]
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- 2023
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39. Localization of the gene for X-linked calvarial hyperostosis to chromosome Xq27.3–Xqter
- Author
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Borra, V.M., Steenackers, E., de Freitas, F., Van Hul, E., Glass, I., and Van Hul, W.
- Published
- 2014
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40. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
- Author
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Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E, Johnson J.O., Chia R., Miller D.E., Li R., Kumaran R., Abramzon Y., Alahmady N., Renton A.E., Topp S.D., Gibbs J.R., Cookson M.R., Sabir M.S., Dalgard C.L., Troakes C., Jones A.R., Shatunov A., Iacoangeli A., Al Khleifat A., Ticozzi N., Silani V., Gellera C., Blair I.P., Dobson-Stone C., Kwok J.B., Bonkowski E.S., Palvadeau R., Tienari P.J., Morrison K.E., Shaw P.J., Al-Chalabi A., Brown R.H., Calvo A., Mora G., Al-Saif H., Gotkine M., Leigh F., Chang I.J., Perlman S.J., Glass I., Scott A.I., Shaw C.E., Basak A.N., Landers J.E., Chio A., Crawford T.O., Smith B.N., Traynor B.J., Fallini C., Gkazi A.S., Scotter E.L., Kenna K.P., Keagle P., Tiloca C., Vance C., Colombrita C., King A., Pensato V., Castellotti B., Baas F., Ten Asbroek A.L.M.A., McKenna-Yasek D., McLaughlin R.L., Polak M., Asress S., Esteban-Perez J., Stevic Z., D'Alfonso S., Mazzini L., Comi G.P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., Van Rheenen W., Rademakers R., Van Blitterswijk M., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K.L., Nicholson G.A., Leblond-Manry C., Rouleau G.A., Hardiman O., Veldink J.H., Van Den Berg L.H., Pall H., Turner M.R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Glass J.D., Ratti A., Adeleye A., Soltis A.R., Alba C., Viollet C., Bacikova D., Hupalo D.N., Sukumar G., Pollard H.B., Wilkerson M.D., Martinez E.M., Ahmed S., Arepalli S., Baloh R.H., Bowser R., Brady C.B., Brice A., Broach J., Campbell R.H., Camu W., Cooper-Knock J., Ding J., Drepper C., Drory V.E., Dunckley T.L., Eicher J.D., England B.K., Faghri F., Feldman E., Floeter M.K., Fratta P., Geiger J.T., Gerhard G., Gibson S.B., Hardy J., Harms M.B., Heiman-Patterson T.D., Hernandez D.G., Jansson L., Kirby J., Kowall N.W., Laaksovirta H., Landeck N., Landi F., Le Ber I., Lumbroso S., Macgowan D.J.L., Maragakis N.J., Mouzat K., Murphy N.A., Myllykangas L., Nalls M.A., Orrell R.W., Ostrow L.W., Pamphlett R., Pickering-Brown S., Pioro E.P., Pletnikova O., Pliner H.A., Pulst S.M., Ravits J.M., Rivera A., Robberecht W., Rogaeva E., Rollinson S., Rothstein J.D., Scholz S.W., Sendtner M., Sidle K.C., Simmons Z., Singleton A.B., Smith N., Stone D.J., Troncoso J.C., Valori M., Van Damme P., Van Deerlin V.M., Van Den Bosch L., Zinman L., Angelocola S.M., Ausiello F.P., Barberis M., Bartolomei I., Battistini S., Bersano E., Bisogni G., Borghero G., Brunetti M., Cabona C., Canale F., Canosa A., Cantisani T.A., Capasso M., Caponnetto C., Cardinali P., Carrera P., Casale F., Colletti T., Conforti F.L., Conte A., Conti E., Corbo M., Cuccu S., Dalla Bella E., D'Errico E., Demarco G., Dubbioso R., Ferrarese C., Ferraro P.M., Filippi M., Fini N., Floris G., Fuda G., Gallone S., Gianferrari G., Giannini F., Grassano M., Greco L., Iazzolino B., Introna A., La Bella V., Lattante S., Liguori R., Logroscino G., Logullo F.O., Lunetta C., Mandich P., Mandrioli J., Manera U., Manganelli F., Marangi G., Marinou K., Marrosu M.G., Martinelli I., Messina S., Moglia C., Mosca L., Murru M.R., Origone P., Passaniti C., Petrelli C., Petrucci A., Pozzi S., Pugliatti M., Quattrini A., Ricci C., Riolo G., Riva N., Russo M., Sabatelli M., Salamone P., Salivetto M., Salvi F., Santarelli M., Sbaiz L., Sideri R., Simone I., Simonini C., Spataro R., Tanel R., Tedeschi G., Ticca A., Torriello A., Tranquilli S., Tremolizzo L., Trojsi F., Vasta R., Vacchiano V., Vita G., Volanti P., Zollino M., Zucchi E., Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chio, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Fallini, C., Gkazi, A. S., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., Mclaughlin, R. L., Polak, M., Asress, S., Esteban-Perez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Soraru, G., Williams, K. L., Nicholson, G. A., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R., Talbot, K., Taroni, F., Garcia-Redondo, A., Wu, Z., Glass, J. D., Ratti, A., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibson, S. B., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M., Zucchi, E., Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Palvadeau, Robin, Johnson, Janel O., Chia, Ruth, Miller, Danny E., Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E., Topp, Simon D., Gibbs, J. Raphael, Cookson, Mark R., Sabir, Marya S., Dalgard, Clifton L., Troakes, Claire, Jones, Ashley R., Shatunov, Aleksey, Lacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P., Dobson-Stone, Carol, Kwok, John B., Bonkowski, Emily S., Tienari, Pentti J., Morrison, Karen E., Shaw, Pamela J., Al-Chalabi, Ammar, Jr, Robert H. Brown, Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J., Perlman, Seth J., Glass, Ian, Scott, Anna, I., Landers, John E., Chio, Adriano, Crawford, Thomas O., Smith, Bradley N., Traynor, Bryan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Johnson, J, Chia, R, Miller, D, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A, Topp, S, Gibbs, J, Cookson, M, Sabir, M, Dalgard, C, Troakes, C, Jones, A, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I, Dobson-Stone, C, Kwok, J, Bonkowski, E, Palvadeau, R, Tienari, P, Morrison, K, Shaw, P, Al-Chalabi, A, Brown, R, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I, Perlman, S, Glass, I, Scott, A, Shaw, C, Basak, A, Landers, J, Chiò, A, Crawford, T, Smith, B, Traynor, B, Fallini, C, Gkazi, A, Scotter, E, Kenna, K, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A, McKenna-Yasek, D, Mclaughlin, R, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K, Nicholson, G, Leblond-Manry, C, Rouleau, G, Hardiman, O, Veldink, J, van den Berg, L, Pall, H, Turner, M, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J, Ratti, A, Adeleye, A, Soltis, A, Alba, C, Viollet, C, Bacikova, D, Hupalo, D, Sukumar, G, Pollard, H, Wilkerson, M, Martinez, E, Ahmed, S, Arepalli, S, Baloh, R, Bowser, R, Brady, C, Brice, A, Broach, J, Campbell, R, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V, Dunckley, T, Eicher, J, England, B, Faghri, F, Feldman, E, Floeter, M, Fratta, P, Geiger, J, Gerhard, G, Gibson, S, Hardy, J, Harms, M, Heiman-Patterson, T, Hernandez, D, Jansson, L, Kirby, J, Kowall, N, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D, Maragakis, N, Mouzat, K, Murphy, N, Myllykangas, L, Nalls, M, Orrell, R, Ostrow, L, Pamphlett, R, Pickering-Brown, S, Pioro, E, Pletnikova, O, Pliner, H, Pulst, S, Ravits, J, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J, Scholz, S, Sendtner, M, Sidle, K, Simmons, Z, Singleton, A, Smith, N, Stone, D, Troncoso, J, Valori, M, Van Damme, P, Van Deerlin, V, Van Den Bosch, L, Zinman, L, Angelocola, S, Ausiello, F, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, T, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, F, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, F, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, M, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E, HUS Neurocenter, Department of Neurosciences, Clinicum, Neurologian yksikkö, TRIMM - Translational Immunology Research Program, Pentti Tienari / Principal Investigator, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Complex Trait Genetics, Johnson, Janel O, Miller, Danny E, Renton, Alan E, Topp, Simon D, Gibbs, J Raphael, Cookson, Mark R, Sabir, Marya S, Dalgard, Clifton L, Jones, Ashley R, Iacoangeli, Alfredo, Blair, Ian P, Kwok, John B, Bonkowski, Emily S, Tienari, Pentti J, Morrison, Karen E, Shaw, Pamela J, Brown, Robert H, Chang, Irene J, Perlman, Seth J, Scott, Anna I, Shaw, Christopher E, Basak, A Nazli, Landers, John E, Chiò, Adriano, Crawford, Thomas O, Smith, Bradley N, Traynor, Bryan J, Fallini, Claudia, Gkazi, Athina Soragia, Scotter, Emma L, Kenna, Kevin P, Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, Ten Asbroek, Anneloor L M A, McKenna-Yasek, Diane, Mclaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesú, Stevic, Zorica, D'Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L, Nicholson, Garth A, Leblond-Manry, Claire, Rouleau, Guy A, Hardiman, Orla, Veldink, Jan H, van den Berg, Leonard H, Pall, Hardev, Turner, Martin R, Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D, Ratti, Antonia, Adeleye, Adelani, Soltis, Anthony R, Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Hupalo, Daniel N, Sukumar, Gauthaman, Pollard, Harvey B, Wilkerson, Matthew D, Martinez, Elisa McGrath, Ahmed, Sarah, Arepalli, Sampath, Baloh, Robert H, Bowser, Robert, Brady, Christopher B, Brice, Alexi, Broach, Jame, Campbell, Roy H, Camu, William, Cooper-Knock, John, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E, Dunckley, Travis L, Eicher, John D, England, Bryce K, Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Geiger, Joshua T, Gerhard, Glenn, Gibson, Summer B, Hardy, John, Harms, Matthew B, Heiman-Patterson, Terry D, Hernandez, Dena G, Jansson, Lilja, Kirby, Janine, Kowall, Neil W, Laaksovirta, Hannu, Landeck, Natalie, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Macgowan, Daniel J L, Maragakis, Nicholas J, Mouzat, Kevin, Murphy, Natalie A, Myllykangas, Liisa, Nalls, Mike A, Orrell, Richard W, Ostrow, Lyle W, Pamphlett, Roger, Pickering-Brown, Stuart, Pioro, Erik P, Pletnikova, Olga, Pliner, Hannah A, Pulst, Stefan M, Ravits, John M, Rivera, Alberto, Robberecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D, Scholz, Sonja W, Sendtner, Michael, Sidle, Katie C, Simmons, Zachary, Singleton, Andrew B, Smith, Nathan, Stone, David J, Troncoso, Juan C, Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M, Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M, Ausiello, Francesco P, Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A, Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L, Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Dalla Bella, Eleonora, D'Errico, Eustachio, Demarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M, Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O, Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Mosca, Lorena, Murru, Maria R, Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, and Zucchi, Elisabetta
- Subjects
Hereditary sensory neuropathy ,L-serine ,Mutations ,Deoxysphingolipids ,Accumulation ,Enzyme complex ,Juvenile amyotrophic lateral sclerosis ,Serine C-Palmitoyltransferase ,Whole Exome Sequencing ,0302 clinical medicine ,Medicine ,Family history ,Amyotrophic lateral sclerosis ,Child ,Index case ,Exome sequencing ,Original Investigation ,0303 health sciences ,Neurosciences and neurology ,3. Good health ,Child, Preschool ,Failure to thrive ,Female ,medicine.symptom ,Life Sciences & Biomedicine ,L-SERINE ,Comments ,Human ,Adult ,medicine.medical_specialty ,Adolescent ,Amyotrophic Lateral Sclerosis ,Genetic Predisposition to Disease ,Humans ,Mutation ,Young Adult ,Clinical Neurology ,NO ,03 medical and health sciences ,DEOXYSPHINGOLIPIDS ,Internal medicine ,Exome Sequencing ,Online First ,Juvenile ,Preschool ,030304 developmental biology ,ACCUMULATION ,Science & Technology ,SPTLC1 ,business.industry ,MUTATIONS ,Research ,3112 Neurosciences ,medicine.disease ,HEREDITARY SENSORY NEUROPATHY ,juvenile ,3111 Biomedicine ,Neurology (clinical) ,Neurosciences & Neurology ,ALS ,genetic ,business ,030217 neurology & neurosurgery ,Amyotrophic Lateral Sclerosi - Abstract
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder., This genetic association study identifies genetic variants associated with juvenile amyotrophic lateral sclerosis., Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.
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- 2021
41. Human iPSC Derived Enamel Organoid Guided by Single-Cell Atlas of Human Tooth Development
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Alghadeer, A, primary, Hanson-Drury, S, additional, Ehnes, D, additional, Zhao, YT, additional, Patni, AP, additional, O’Day, D, additional, Spurrell, CH, additional, Gogate, AA, additional, Phal, A, additional, Zhang, H, additional, Devi, A, additional, Wang, Y, additional, Starita, L, additional, Doherty, D, additional, Glass, I, additional, Shendure, J, additional, Baker, D, additional, Regier, MC, additional, Mathieu, J, additional, and Ruohola-Baker, H, additional
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- 2022
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42. Characteristics of AGB Stars in the Isogal, Macho and Other Databases
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Glass, I. S., Nakada, Y., editor, Honma, M., editor, and Seki, M., editor
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- 2003
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43. 392 Mechanisms of rete ridge development, regeneration, and induction in mammalian skin
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Thompson, S., Yaple, V., Phan, Q., Yanke, C., Salmon, A., Slayden, O., Hermann, B., Ostedgaard, L., Welsh, M., Glass, I., Jansen, H., Ciccarelli, M., Driskell, I., and Driskell, R.
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- 2024
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44. Extreme Infrared Stars Discovered in Magellanic Cloud Globular Clusters
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Tanabé, T., Nishida, S., Nakada, Y., Onaka, T., Glass, I. S., Sauvage, M., Dyson, John, editor, Lamb, Susan A., editor, Cameron, A. G. W., editor, Cherepashchuk, A. M., editor, Fälthammar, C.-G., editor, Kitamura, M., editor, Waters, L. B. F. M., editor, Waelkens, C., editor, van der Hucht, K. A., editor, and Zaal, P. A., editor
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- 1998
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45. Doubling of the Infrared Flux from NGC 1068: A Circumnuclear Dust Torus?
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Glass, I. S., Block, David L., editor, and Greenberg, J. Mayo, editor
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- 1996
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46. An Infrared Camera Based on a Large PtSi Array
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Glass, I. S., Sekiguchi, K., Nakada, Y., Philip, A. G. Davis, editor, Janes, Kenneth A., editor, and Upgren, Arthur R., editor
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- 1995
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47. Luminous Objects within 100 PC of the Galactic Centre
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Glass, I. S., Genzel, R., editor, and Harris, A. I., editor
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- 1994
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48. General Surveys of the Bulge in the Infrared
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Glass, I. S., Dejonghe, Herwig, editor, and Habing, Harm J., editor
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- 1993
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49. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
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Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, OʼRoak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, OʼDay, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, and Doherty, D
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- 2015
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50. Supersonic Expansion of a Dusty Gas Around a Sharp Corner
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Miura, H. and Glass, I. I.
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- 1988
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