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Application of full-genome analysis to diagnose rare monogenic disorders.

NPJ genomic medicine

Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D.
PMID: 34556655
NPJ Genom Med. 2021 Sep 23;6(1):77. doi: 10.1038/s41525-021-00241-5.

Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with...

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Shieh JT, Penon-Portmann M, Wong KHY, et al. Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021;6(1):77doi: 10.1038/s41525-021-00241-5.
Shieh, J. T., Penon-Portmann, M., Wong, K. H. Y., Levy-Sakin, M., Verghese, M., Slavotinek, A., Gallagher, R. C., Mendelsohn, B. A., Tenney, J., Beleford, D., Perry, H., Chow, S. K., Sharo, A. G., Brenner, S. E., Qi, Z., Yu, J., Klein, O. D., Martin, D., Kwok, P. Y., & Boffelli, D. (2021). Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine, 6(1), 77. https://doi.org/10.1038/s41525-021-00241-5
Shieh, Joseph T, et al. "Application of full-genome analysis to diagnose rare monogenic disorders." NPJ genomic medicine vol. 6,1 (2021): 77. doi: https://doi.org/10.1038/s41525-021-00241-5
Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Sep 23;6(1):77. doi: 10.1038/s41525-021-00241-5. PMID: 34556655; PMCID: PMC8460793.
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Siderophore-mediated zinc acquisition enhances enterobacterial colonization of the inflamed gut.

Nature communications

Behnsen J, Zhi H, Aron AT, Subramanian V, Santus W, Lee MH, Gerner RR, Petras D, Liu JZ, Green KD, Price SL, Camacho J, Hillman H, Tjokrosurjo J, Montaldo NP, Hoover EM, Treacy-Abarca S, Gilston BA, Skaar EP, Chazin WJ, Garneau-Tsodikova S, Lawrenz MB, Perry RD, Nuccio SP, Dorrestein PC, Raffatellu M.
PMID: 34853318
Nat Commun. 2021 Dec 01;12(1):7016. doi: 10.1038/s41467-021-27297-2.

Zinc is an essential cofactor for bacterial metabolism, and many Enterobacteriaceae express the zinc transporters ZnuABC and ZupT to acquire this metal in the host. However, the probiotic bacterium Escherichia coli Nissle 1917 (or "Nissle") exhibits appreciable growth in...

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Behnsen J, Zhi H, Aron AT, et al. Siderophore-mediated zinc acquisition enhances enterobacterial colonization of the inflamed gut. Nat Commun. 2021;12(1):7016doi: 10.1038/s41467-021-27297-2.
Behnsen, J., Zhi, H., Aron, A. T., Subramanian, V., Santus, W., Lee, M. H., Gerner, R. R., Petras, D., Liu, J. Z., Green, K. D., Price, S. L., Camacho, J., Hillman, H., Tjokrosurjo, J., Montaldo, N. P., Hoover, E. M., Treacy-Abarca, S., Gilston, B. A., Skaar, E. P., Chazin, W. J., Garneau-Tsodikova, S., Lawrenz, M. B., Perry, R. D., Nuccio, S. P., Dorrestein, P. C., & Raffatellu, M. (2021). Siderophore-mediated zinc acquisition enhances enterobacterial colonization of the inflamed gut. Nature communications, 12(1), 7016. https://doi.org/10.1038/s41467-021-27297-2
Behnsen, Judith, et al. "Siderophore-mediated zinc acquisition enhances enterobacterial colonization of the inflamed gut." Nature communications vol. 12,1 (2021): 7016. doi: https://doi.org/10.1038/s41467-021-27297-2
Behnsen J, Zhi H, Aron AT, Subramanian V, Santus W, Lee MH, Gerner RR, Petras D, Liu JZ, Green KD, Price SL, Camacho J, Hillman H, Tjokrosurjo J, Montaldo NP, Hoover EM, Treacy-Abarca S, Gilston BA, Skaar EP, Chazin WJ, Garneau-Tsodikova S, Lawrenz MB, Perry RD, Nuccio SP, Dorrestein PC, Raffatellu M. Siderophore-mediated zinc acquisition enhances enterobacterial colonization of the inflamed gut. Nat Commun. 2021 Dec 01;12(1):7016. doi: 10.1038/s41467-021-27297-2. PMID: 34853318.
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The influence of COVID-19 preventive measures on the air quality in Abu Dhabi (United Arab Emirates).

Air quality, atmosphere, & health

Teixidó O, Tobías A, Massagué J, Mohamed R, Ekaabi R, Hamed HI, Perry R, Querol X, Al Hosani S.
PMID: 33841587
Air Qual Atmos Health. 2021 Apr 04;1-9. doi: 10.1007/s11869-021-01000-2. Epub 2021 Apr 04.

The preventive and cautionary measures taken by the UAE and Abu Dhabi governments to reduce the spread of the coronavirus disease (COVID-19) and promote social distancing have led to a reduction of mobility and a modification of economic and...

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Teixidó O, Tobías A, Massagué J, et al. The influence of COVID-19 preventive measures on the air quality in Abu Dhabi (United Arab Emirates). Air Qual Atmos Health. 2021;1-9doi: 10.1007/s11869-021-01000-2.
Teixidó, O., Tobías, A., Massagué, J., Mohamed, R., Ekaabi, R., Hamed, H. I., Perry, R., Querol, X., & Al Hosani, S. (2021). The influence of COVID-19 preventive measures on the air quality in Abu Dhabi (United Arab Emirates). Air quality, atmosphere, & health, 1-9. https://doi.org/10.1007/s11869-021-01000-2
Teixidó, Oriol, et al. "The influence of COVID-19 preventive measures on the air quality in Abu Dhabi (United Arab Emirates)." Air quality, atmosphere, & health vol. (2021): 1-9. doi: https://doi.org/10.1007/s11869-021-01000-2
Teixidó O, Tobías A, Massagué J, Mohamed R, Ekaabi R, Hamed HI, Perry R, Querol X, Al Hosani S. The influence of COVID-19 preventive measures on the air quality in Abu Dhabi (United Arab Emirates). Air Qual Atmos Health. 2021 Apr 04;1-9. doi: 10.1007/s11869-021-01000-2. Epub 2021 Apr 04. PMID: 33841587; PMCID: PMC8019479.
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Rural-urban patterns of disability: The role of migration.

Population, space and place

von Reichert C, Berry EH.
PMID: 33762900
Popul Space Place. 2019 Oct;1:1-18.

Disability rates are higher in rural than in urban areas of the United States, raising the question: do residential preferences and selective migration of people with disabilities play a role in higher rural disability rates? Utilising concepts of environmental...

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von Reichert C, Berry EH. Rural-urban patterns of disability: The role of migration. Popul Space Place. 2019;1:1-18
von Reichert, C., & Berry, E. H. (2019). Rural-urban patterns of disability: The role of migration. Population, space and place, 11-18.
von Reichert, Christiane, and Berry, E Helen. "Rural-urban patterns of disability: The role of migration." Population, space and place vol. 1 (2019): 1-18.
von Reichert C, Berry EH. Rural-urban patterns of disability: The role of migration. Popul Space Place. 2019 Oct;1:1-18. PMID: 33762900; PMCID: PMC7985984.
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Showing 421 to 424 of 424 entries