Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jennifer E, Neil"'
Autor:
Ajay X. Thomas, Nichole Link, Laurie A. Robak, Gail Demmler‐Harrison, Emily C. Pao, Audrey E. Squire, Savannah Michels, Julie S. Cohen, Anne Comi, Paolo Prontera, Alberto Verrotti di Pianella, Giuseppe Di Cara, Livia Garavelli, Stefano Giuseppe Caraffi, Carlo Fusco, Roberta Zuntini, Kendall C. Parks, Elliott H. Sherr, Mais O. Hashem, Sateesh Maddirevula, Fowzan S. Alkuraya, Isphana A. F. Contractar, Jennifer E. Neil, Christopher A. Walsh, Hugo J. Bellen, Hsiao‐Tuan Chao, Robin D. Clark, Ghayda M. Mirzaa
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1276-1288 (2022)
Abstract Objective This study delineates the clinical and molecular spectrum of ANKLE2‐related microcephaly (MIC), as well as highlights shared pathological mechanisms between ANKLE2 and the Zika virus. Methods We identified 12 individuals with MIC
Externí odkaz:
https://doaj.org/article/bf3759a0566147bbb6315854302293ea
Autor:
Michael B. Miller, August Yue Huang, Junho Kim, Zinan Zhou, Samantha L. Kirkham, Eduardo A. Maury, Jennifer S. Ziegenfuss, Hannah C. Reed, Jennifer E. Neil, Lariza Rento, Steven C. Ryu, Chanthia C. Ma, Lovelace J. Luquette, Heather M. Ames, Derek H. Oakley, Matthew P. Frosch, Bradley T. Hyman, Michael A. Lodato, Eunjung Alice Lee, Christopher A. Walsh
Publikováno v:
Nature
Dementia in Alzheimer’s disease progresses alongside neurodegeneration(1–4), but the specific events that cause neuronal dysfunction and death remain poorly understood. During normal ageing, neurons progressively accumulate somatic mutations(5) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1655e9b7142b4e460d87e561c9b1d5d
https://doi.org/10.1038/s41586-022-04640-1
https://doi.org/10.1038/s41586-022-04640-1
Autor:
Rita Pinto-Costa, Kaining Hu, Xiangbin Ruan, Marni J. Falk, Christopher A. Walsh, Caleb Bupp, Christina Fagerberg, Charlotte Brasch-Andersen, Mónica Mendes Sousa, Lars Kjærsgaard Hansen, Pedro Brites, Cai Qi, Colleen Muraresku, Rebecca D. Ganetzky, Oana Caluseriu, Irena Feng, Dong Li, Rong Zhong, Robert Sean Hill, Jennifer E. Neil, Bowei Kang, Xiaochang Zhang, Ana Costa, Elizabeth J. Bhoj, Kristopher T. Kahle, Hakon Hakonarson
Publikováno v:
Qi, C, Feng, I, Costa, A R, Pinto-Costa, R, Neil, J E, Caluseriu, O, Li, D, Ganetzky, R D, Brasch-Andersen, C, Fagerberg, C, Hansen, L K, Bupp, C, Muraresku, C C, Ruan, X, Kang, B, Hu, K, Zhong, R, Brites, P, Bhoj, E J, Hill, R S, Falk, M J, Hakonarson, H, Kahle, K T, Sousa, M M, Walsh, C A & Zhang, X 2022, ' Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 2, pp. 319-331 . https://doi.org/10.1016/j.gim.2021.09.014
Genet Med
Genet Med
PURPOSE: Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes, and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f6b2c935fe6ca940ff920a6ec4f1391
https://doi.org/10.1016/j.gim.2021.09.014
https://doi.org/10.1016/j.gim.2021.09.014
Autor:
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
Publikováno v:
American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143
Genotype; Intellectual disability; Phenotype Genotipo; Discapacidad intelectual; Fenotipo Genotip; Discapacitat intel·lectual; Fenotip We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e786f2ecd8803b730a91f04d46d55226
Autor:
Richard S. Smith, Lina Basel-Salmon, Friedhelm Hildebrandt, Gilad D. Evrony, Aisha M. Al-Shamsi, Jiin Ying Lim, Rachel Straussberg, Indra Ganesan, Diane D. Shao, Christian Beetz, Najim Ameziane, Min Dong, Christopher A. Walsh, Guntram Borck, Saumya Shekhar Jamuar, Lihadh Al-Gazali, Peter Bauer, R. Sean Hill, Edward Yang, Amar J. Majmundar, Iris Hovel, Amal Al Tenaiji, Amjad Khan, Achiya Z. Amir, Hind Ahmed, Muna Al-Saffar, Thorsten M. Schlaeger, Lariza M. Rento, Jennifer E. Neil, A. James Barkovich, Wafaa Eyaid, Songhai Tian, Shirlee Shril
Publikováno v:
Genetics in Medicine
Purpose The endoplasmic reticulum membrane complex (EMC) is a highly conserved, multifunctional 10-protein complex related to membrane protein biology. In seven families, we identified 13 individuals with highly overlapping phenotypes who harbor a si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0412cacce3d49220be4b2d68dd6a0187
https://doi.org/10.1038/s41436-021-01097-x
https://doi.org/10.1038/s41436-021-01097-x
Autor:
Richard S, Smith, Marta, Florio, Shyam K, Akula, Jennifer E, Neil, Yidi, Wang, R Sean, Hill, Melissa, Goldman, Christopher D, Mullally, Nora, Reed, Luis, Bello-Espinosa, Laura, Flores-Sarnat, Fabiola Paoli, Monteiro, Casella B, Erasmo, Filippo, Pinto E Vairo, Eva, Morava, A James, Barkovich, Joseph, Gonzalez-Heydrich, Catherine A, Brownstein, Steven A, McCarroll, Christopher A, Walsh
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance By evaluating children with a malformed cerebral cortex, we identified an ATPase pump (ATP1A3) with an early role in brain development. The ATP1A3 pump maintains the physiological concentration of sodium and potassium ions in cells, a pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::af1f9e50c5fbe1aa916dee7cbe8759c7
https://pubmed.ncbi.nlm.nih.gov/34161264
https://pubmed.ncbi.nlm.nih.gov/34161264
Autor:
Melissa Goldman, Steven A. McCarroll, Casella B. Erasmo, Marta Florio, Catherine A. Brownstein, Luis Bello-Espinosa, Nora Reed, Shyam K. Akula, Yidi Wang, R. Sean Hill, Filippo Vairo, Laura Flores-Sarnat, A. James Barkovich, Richard S. Smith, Christopher D. Mullally, Christopher A. Walsh, Eva Morava, Fabiola Paoli Monteiro, Joseph Gonzalez-Heydrich, Jennifer E. Neil
Publikováno v:
Proceedings of the National Academy of Sciences. 118
Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+) and potassium (K+) ions across the plasma membrane, a function catalyzed by the Na+,K+-ATPase α-subunit. Here, we describe ATP1A3 variants e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6de18d8331d117633975f361d3c7aa2
https://doi.org/10.1073/pnas.2023333118
https://doi.org/10.1073/pnas.2023333118
Autor:
Cordula Knopp, Petra Holschbach, Stephanie DiTroia, Maggie Brett, Ingo Kurth, Muna Al-Saffar, Ganeshwaran H. Mochida, Lynn Pais, Matthias Begemann, Jennifer E. Neil, Ene-Choo Tan, Angeline H. M. Lai, Lars Buschmann, Natja Haag, Christopher A. Walsh, Laila Bastaki, Florian Kraft
Publikováno v:
European Journal of Human Genetics
Heterozygous missense variants in the WD repeat domain 11 (WDR11) gene are associated with hypogonadotropic hypogonadism in humans. In contrast, knockout of both alleles of Wdr11 in mice results in a more severe phenotype with growth and developmenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e34322a16a4382dff4e06b7c6480422
https://pubmed.ncbi.nlm.nih.gov/34413497
https://pubmed.ncbi.nlm.nih.gov/34413497
Autor:
Luis Bello-Espinosa, Jennifer E. Neil, Steven A. McCarroll, Catherine A. Brownstein, Shyam K. Akula, Melissa Goldman, Fabiola Paoli Monteiro, R. Sean Hill, Joseph Gonzalez-Heydrich, Marta Florio, Filippo Vairo, Yidi Wang, Casella B. Erasmo, A. James Barkovich, Eva Morava, Laura Flores-Sarnat, Christopher A. Walsh, Christopher D. Mullally, Nora Reed, Richard S. Smith
Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+) and potassium (K+) ions across the plasma membrane, a function that is catalyzed by the Na,K-ATPase alpha subunit. In vertebrates, four paral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e1b737098b9724205a87bfa82b43a68
https://doi.org/10.1101/2020.10.03.319137
https://doi.org/10.1101/2020.10.03.319137