A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes

Autor: Ann J. Johnston, Jing-Qiong Kang, Wangzhen Shen, William O. Pickrell, Thomas D. Cushion, Jeffrey S. Davies, Kristin Baer, Jonathan G.L. Mullins, Carrie L. Hammond, Seo-Kyung Chung, Rhys H. Thomas, Cathy White, Phil E.M. Smith, Robert L. Macdonald, Mark I. Rees

Publikováno v: Neurobiology of Disease, Vol 64, Iss , Pp 131-141 (2014)

Genetic mutations in voltage-gated and ligand-gated ion channel genes have been identified in a small number of Mendelian families with genetic generalised epilepsies (GGEs). They are commonly associated with febrile seizures (FS), childhood absence

Externí odkaz: https://doaj.org/article/dc9b7994a81047c3aaaafe890e39676e

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies

Autor: Ahmed H. Al-Amri, Paul Armstrong, Mascia Amici, Clemence Ligneul, James Rouse, Mohammed E. El-Asrag, Andreea Pantiru, Valerie E. Vancollie, Hannah W.Y. Ng, Jennifer A. Ogbeta, Kirstie Goodchild, Jacob Ellegood, Christopher J. Lelliott, Jonathan G.L. Mullins, Amanda Bretman, Ruslan Al-Ali, Christian Beetz, Lihadh Al-Gazali, Aisha Al Shamsi, Jason P. Lerch, Jack R. Mellor, Abeer Al Sayegh, Manir Ali, Chris F. Inglehearn, Steven J. Clapcote

Publikováno v: Al-Amri, A H, Armstrong, P, Amici, M, Ligneul, C, Mellor, J R & Clapcote, S J 2022, ' PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice and Fruit Flies ', Biological Psychiatry, vol. 92, no. 4, pp. 323-334 . https://doi.org/10.1016/j.biopsych.2021.12.017

BackgroundThe discovery of coding variants in genes that confer risk of intellectual disability (ID) is an important step toward understanding the pathophysiology of this common developmental disability.MethodsHomozygosity mapping, whole-exome sequen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c438ba4555785a1f1213cff239036c
https://cronfa.swan.ac.uk/Record/cronfa59175/Download/59175__23886__9c4736e50fd24c30adbf62bd8435ff6d.pdf

Phosphorus and Potassium Release Pattern from Leucaena Leaves in Three Environments of Haiti

Autor: Dennis A. Shannon, J.R. Bossa, J.F. Adams, G.L. Mullins

Publikováno v: Nutrient Cycling in Agroecosystems. 73:25-35

In tropical ecosystems trees have the potential to supply nutrients essential to crops. Leucaena [Leucaena leucocephala (Lam) De Wit] leaf decomposition experiments were established at three sites in Haiti representing diverse soil types to assess th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ab0b3609f10439215890d38d8a5def8d
https://doi.org/10.1007/s10705-005-7127-6

Cotton Response to the Rate and Source of Sulfur on a Sandy Coastal Plain Soil

Autor: G.L. Mullins

Publikováno v: Journal of Production Agriculture. 11:214-218

Cotton acreage in the Coastal Plain of the Southeast has increased in recent years. The soils in this region are sandy and typically have a low retention capacity for sulfate S. A 3-yr (1993-1995) field test was conducted in south Alabama on a Lucy l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::66747f921ba32e195e5f7db7b637b277
https://doi.org/10.2134/jpa1998.0214

Impact of Long-Term Land Application of Broiler Litter on Environmentally Related Soil Properties

Autor: J.C. Williams, W. L. Kingery, C. W. Wood, Dennis P. Delaney, G.L. Mullins

Publikováno v: Journal of Environmental Quality. 23:139-147

The largest portion of Alabama`s rapidly growing poultry industry is geographically concentrated in the Sand Mountain region of northern Alabama. The result is that large amounts of waste are applied to relatively small areas of agricultural soils. A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8e61bb7be691a833ca04e6e3ce2d4b88
https://doi.org/10.2134/jeq1994.00472425002300010022x