Zobrazeno 1 - 10
of 321
pro vyhledávání: '"C Engle"'
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Neuronal migration and axon growth and guidance require precise control of microtubule dynamics and microtubule-based cargo transport. TUBB3 encodes the neuronal-specific β-tubulin isotype III, TUBB3, a component of neuronal microtubules expressed t
Externí odkaz:
https://doaj.org/article/8fe10bf859c34443a5f1e5fdd560c953
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-17 (2021)
Abstract There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congen
Externí odkaz:
https://doaj.org/article/0b824d92093b42b18a9475d624ed7b68
Publikováno v:
California Agriculture, Vol 40, Iss 7 (1986)
Several new materials show promise
Externí odkaz:
https://doaj.org/article/e5fcc5abf55c41bc958535135358f4d1
Publikováno v:
California Agriculture, Vol 37, Iss 9 (1983)
The navel orangeworm overwinters primarily in the larval stage in mummy almonds that remain in the trees or on the ground after harvest. In the spring, moths emerge and lay eggs on the mummy nuts in the trees, and these nuts provide the principal foo
Externí odkaz:
https://doaj.org/article/c42b3633eea940ff80a3105fff24c9f6
Autor:
Mary C. Whitman, Nicole M. Gilette, Jessica L. Bell, Seoyoung A. Kim, Max Tischfield, Elizabeth C. Engle
Publikováno v:
Developmental Biology. 490:126-133
Heterozygous loss of function mutations in TWIST1 cause Saethre-Chotzen syndrome, which is characterized by craniosynostosis, facial asymmetry, ptosis, strabismus, and distinctive ear appearance. Individuals with syndromic craniosynostosis have high
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::930c8a69372638dd872aab3f572e2089
https://doi.org/10.1016/j.ydbio.2022.07.010
https://doi.org/10.1016/j.ydbio.2022.07.010
Autor:
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)
During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the d
Externí odkaz:
https://doaj.org/article/64436425aef44e6d84ebe13cff020fd4
Autor:
Helen J. Kuht, Gail D.E. Maconachie, Jinu Han, Line Kessel, Maria M. van Genderen, Rebecca J. McLean, Michael Hisaund, Zhanhan Tu, Richard W. Hertle, Karen Gronskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae-Hwan Choi, Martin D. Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K. Chen, Rachael C. Heath Jeffery, Abdullah Aamir, Ronaldo Sano, Jing Jin, Brian P. Brooks, Susanne Kohl, Benoit Arveiler, Lluis Montoliu, Elizabeth C. Engle, Frank A. Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irene Gottlob, Mervyn G. Thomas
Publikováno v:
Ophthalmology. 129:708-718
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c0059ea27383e7a2b23c16f05d31c34
https://doi.org/10.1016/j.ophtha.2022.02.010
https://doi.org/10.1016/j.ophtha.2022.02.010
Autor:
Alan P. Tenney, Jean Livet, Timothy Belton, Michaela Prochazkova, Erica M. Pearson, Mary C. Whitman, Ashok B. Kulkarni, Elizabeth C. Engle, Christopher E. Henderson
Publikováno v:
Cell Reports, Vol 29, Iss 2, Pp 437-452.e4 (2019)
Summary: The somatotopic motor-neuron projections onto their cognate target muscles are essential for coordinated movement, but how that occurs for facial motor circuits, which have critical roles in respiratory and interactive behaviors, is poorly u
Externí odkaz:
https://doaj.org/article/7f8cd64b8879453dbe717e916f2ba7a5
Autor:
Disi An, Ryosuke Fujiki, Dylan E Iannitelli, John W Smerdon, Shuvadeep Maity, Matthew F Rose, Alon Gelber, Elizabeth K Wanaselja, Ilona Yagudayeva, Joun Y Lee, Christine Vogel, Hynek Wichterle, Elizabeth C Engle, Esteban Orlando Mazzoni
Publikováno v:
eLife, Vol 8 (2019)
In amyotrophic lateral sclerosis (ALS) spinal motor neurons (SpMN) progressively degenerate while a subset of cranial motor neurons (CrMN) are spared until late stages of the disease. Using a rapid and efficient protocol to differentiate mouse embryo
Externí odkaz:
https://doaj.org/article/0f4bd1185c1e462d992daccca11bd0d2
Autor:
Mervyn G. Thomas, Gail D. E. Maconachie, Helen J. Kuht, Wai-Man Chan, Viral Sheth, Michael Hisaund, Rebecca J. McLean, Brenda Barry, Bashir Al-Diri, Frank A. Proudlock, Zhanhan Tu, Elizabeth C. Engle, Irene Gottlob
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2575 (2021)
Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting cranial nerves/nuclei innervating the extraocular muscles. Autosomal dominant CFEOM arises from het
Externí odkaz:
https://doaj.org/article/06972235c6d446b3bdb335e13189e8a0