Publications

6444 items matching your search terms.

Utility of genetic testing for prenatal presentations of hypophosphatasia

Sperelakis-Beedham, B.; Taillandier, A.; Domingues, C.; Guberto, M.; Colin, E.; Porquet-Bordes, V.; Rothenbuhler, A.; Salles, J. P.; Wenkert, D.; Zankl, A.; Muti, C.; Bacrot, S.; Simon-Bouy, B.; Mornet, E.

MOLECULAR GENETICS AND METABOLISM 132 (3) :198-203, 2021 10.1016/j.ymgme.2021.01.009

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

Palmer, E. E.; Sachdev, R.; Macintosh, R.; Melo, U. S.; Mundlos, S.; Righetti, S.; Kandula, T.; Minoche, A. E.; Puttick, C.; Gayevskiy, V.; Hesson, L.; Idrisoglu, S.; Shoubridge, C.; Thai, M. H. N.; Davis, R. L.; Drew, A. P.; Sampaio, H.; Andrews, P. I.; Lawson, J.; Cardamone, M.; Mowat, D.; Colley, A.; Kummerfeld, S.; Dinger, M. E.; Cowley, M. J.; Roscioli, T.; Bye, A.; Kirk, E.

NEUROLOGY 96 (13) :e1770-e1782, 2021 10.1212/WNL.0000000000011655

The emergence of the brain non-CpG methylation system in vertebrates

de Mendoza, A.; Poppe, D.; Buckberry, S.; Pflueger, J.; Albertin, C. B.; Daish, T.; Bertrand, S.; de la Calle-Mustienes, E.; Gomez-Skarmeta, J. L.; Nery, J. R.; Ecker, J. R.; Baer, B.; Ragsdale, C. W.; Grutzner, F.; Escriva, H.; Venkatesh, B.; Bogdanovic, O.; Lister, R.

Nature Ecology & Evolution 5 (3) :369-378, 2021 10.1038/s41559-020-01371-2

Synthesis and Characterization of Bone Binding Antibiotic-1 (BBA-1), a Novel Antimicrobial for Orthopedic Applications

Kamble, S.; Valtchev, P.; Dao, A.; Pelras, T.; Rogers, M. J.; Savage, P. B.; Dehghani, F.; Schindeler, A.

MOLECULES 26 (6) 2021 10.3390/molecules26061541

Metabolic remodeling of dystrophic skeletal muscle reveals biological roles for dystrophin and utrophin in adaptation and plasticity

Hardee, J. P.; Martins, K. J. B.; Miotto, P. M.; Ryall, J. G.; Gehrig, S. M.; Reljic, B.; Naim, T.; Chung, J. D.; Trieu, J.; Swiderski, K.; Philp, A. M.; Philp, A.; Watt, M. J.; Stroud, D. A.; Koopman, R.; Steinberg, G. R.; Lynch, G. S.

Molecular Metabolism :101157, 2021 10.1016/j.molmet.2020.101157

Gene expression profiling of SARS-CoV-2 infections reveal distinct primary lung cell and systemic immune infection responses that identify pathways relevant in COVID-19 disease

Moni, M. A.; Quinn, J. M. W.; Sinmaz, N.; Summers, M. A.

BRIEFINGS IN BIOINFORMATICS 22 (2) :1324-1337, 2021 10.1093/bib/bbaa376

Adaptation of Oxford Nanopore technology for hepatitis C whole genome sequencing and identification of within-host viral variants

Riaz, N.; Leung, P.; Barton, K.; Smith, M. A.; Carswell, S.; Bull, R.; Lloyd, A. R.; Rodrigo, C.

BMC Genomics 22 (1) :148, 2021 10.1186/s12864-021-07460-1

Associations between seven-year C-reactive protein trajectory or pack-years smoked with choroidal or retinal thicknesses in young adults

Lee, S. S.; Beales, D. J.; Chen, F. K.; Yazar, S.; Alonso-Caneiro, D.; Mackey, D. A.

Scientific Reports 11 (1) :6147, 2021 10.1038/s41598-021-85626-3

Macular Thickness Profile and Its Association With Best-Corrected Visual Acuity in Healthy Young Adults

Lee, S. S.; Lingham, G.; Alonso-Caneiro, D.; Charng, J.; Chen, F. K.; Yazar, S.; Mackey, D. A.

Translational Vision Science & Technology 10 (3) :8, 2021 10.1167/tvst.10.3.8

Bioinformatics and system biology approach to identify the influences of COVID-19 on cardiovascular and hypertensive comorbidities

Nashiry, A.; Sarmin Sumi, S.; Islam, S.; Quinn, J. M. W.; Moni, M. A.

BRIEFINGS IN BIOINFORMATICS 22 (2) :1387-1401, 2021 10.1093/bib/bbaa426

Plasma bile acids more closely align with insulin resistance, visceral and hepatic adiposity than total adiposity

Bishay, R. H.; Tonks, K. T.; George, J.; Samocha-Bonet, D.; Meyerowitz-Katz, G.; Chisholm, D. J.; James, D. E.; Greenfield, J. R.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 106 (3) :e1131-e1139, 2021 10.1210/clinem/dgaa940

Current status and distribution of hip fractures among older adults in China

Gong, X. F.; Li, X. P.; Zhang, L. X.; Center, J. R.; Bliuc, D.; Shi, Y.; Wang, H. B.; He, L.; Wu, X. B.

OSTEOPOROSIS INTERNATIONAL 2021 10.1007/s00198-021-05849-y

Updated Role of Neuropeptide Y in Nicotine-Induced Endothelial Dysfunction and Atherosclerosis

Zheng, Y. L.; Wang, W. D.; Li, M. M.; Lin, S.; Lin, H. L.

Frontiers in Cardiovascular Medicine 8 :630968, 2021 10.3389/fcvm.2021.630968

Haploidentical stem cell transplantation with post-transplant cyclophosphamide for osteopetrosis and other nonmalignant diseases

Even-Or, E.; NaserEddin, A.; Dinur Schejter, Y.; Shadur, B.; Zaidman, I.; Stepensky, P.

BONE MARROW TRANSPLANTATION 56 (2) :434-441, 2021 10.1038/s41409-020-01040-9

Method for voluntary oral administration of drugs in mice

Zhang, L.

STAR Protocols 2 (1) :100330, 2021 10.1016/j.xpro.2021.100330

Emerging Roles of Metallothioneins in Beta Cell Pathophysiology: Beyond and Above Metal Homeostasis and Antioxidant Response

Bensellam, M.; Laybutt, D. R.; Jonas, J. C.

Biology (Basel) 10 (3) :176, 2021 10.3390/biology10030176