Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Anne Lowery"'
Autor:
Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O'Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) t
Externí odkaz:
https://doaj.org/article/5c5eb50256d544b88350b791cab466e7
Autor:
Ines Hahn, Andre Voelzmann, Jill Parkin, Judith B Fülle, Paula G Slater, Laura Anne Lowery, Natalia Sanchez-Soriano, Andreas Prokop
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009647 (2021)
The formation and maintenance of microtubules requires their polymerisation, but little is known about how this polymerisation is regulated in cells. Focussing on the essential microtubule bundles in axons of Drosophila and Xenopus neurons, we show t
Externí odkaz:
https://doaj.org/article/c5e8e8f422334f6baa0209cb9072db39
Autor:
Lucilla Pizzo, Micaela Lasser, Tanzeen Yusuff, Matthew Jensen, Phoebe Ingraham, Emily Huber, Mayanglambam Dhruba Singh, Connor Monahan, Janani Iyer, Inshya Desai, Siddharth Karthikeyan, Dagny J Gould, Sneha Yennawar, Alexis T Weiner, Vijay Kumar Pounraja, Arjun Krishnan, Melissa M Rolls, Laura Anne Lowery, Santhosh Girirajan
Publikováno v:
PLoS Genetics, Vol 17, Iss 4, p e1009112 (2021)
We previously identified a deletion on chromosome 16p12.1 that is mostly inherited and associated with multiple neurodevelopmental outcomes, where severely affected probands carried an excess of rare pathogenic variants compared to mildly affected ca
Externí odkaz:
https://doaj.org/article/ea88765e5dca40999d37fc1d27f96ec3
Autor:
Alexandra Mills, Elizabeth Bearce, Rachael Cella, Seung Woo Kim, Megan Selig, Sangmook Lee, Laura Anne Lowery
Publikováno v:
Frontiers in Physiology, Vol 11 (2021)
Externí odkaz:
https://doaj.org/article/dd357d847b16467caae53a69bcf981ee
Autor:
Mayanglambam Dhruba Singh, Matthew Jensen, Micaela Lasser, Emily Huber, Tanzeen Yusuff, Lucilla Pizzo, Brian Lifschutz, Inshya Desai, Alexis Kubina, Sneha Yennawar, Sydney Kim, Janani Iyer, Diego E Rincon-Limas, Laura Anne Lowery, Santhosh Girirajan
Publikováno v:
PLoS Genetics, Vol 16, Iss 2, p e1008590 (2020)
The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and intellectual disability. Despite its importance towards neurodevelopment, the role of individual ge
Externí odkaz:
https://doaj.org/article/70c2a6475aa74212a798ae4353e5a86f
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Wolf–Hirschhorn syndrome (WHS) is a rare developmental disorder characterized by intellectual disability and various physical malformations including craniofacial, skeletal, and cardiac defects. These phenotypes, as they involve structures that are
Externí odkaz:
https://doaj.org/article/e6f79eb2b5a74469b1eea88f1ceb63a6
Autor:
Alexandra Mills, Elizabeth Bearce, Rachael Cella, Seung Woo Kim, Megan Selig, Sangmook Lee, Laura Anne Lowery
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Wolf-Hirschhorn Syndrome (WHS) is a human developmental disorder arising from a hemizygous perturbation, typically a microdeletion, on the short arm of chromosome four. In addition to pronounced intellectual disability, seizures, and delayed growth,
Externí odkaz:
https://doaj.org/article/2b72e36242a843749feff2e9348d5e14
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Neurons depend on the highly dynamic microtubule (MT) cytoskeleton for many different processes during early embryonic development including cell division and migration, intracellular trafficking and signal transduction, as well as proper axon guidan
Externí odkaz:
https://doaj.org/article/7a55261ff4fe4f6ba52a09d39032fd8e
Autor:
Susan Morley, Katie Watson, Anne Lowery, Gabrielle Givens, Jonathon D. Pouliot, Kali Worley, Autumn C. Marshall, Tom Campbell, Jeff Lee
Publikováno v:
Pharmacy Education. 21:582-590
Objective: Healthcare training has increasingly focused on interprofessional education (IPE) to provide students opportunities to gain competencies and learn accountability. IPE was incorporated into the curriculum by creating a course for all health