Zobrazeno 1 - 10 of 92 pro vyhledávání: '"Nicholas J. Cowan"'
1
Akademický článek
Restoring understory and riparian areas in oil palm plantations does not increase greenhouse gas fluxes
Autor: Julia Drewer, Ribka Sionita Tarigan, Lindsay F. Banin, Stella White, Elizabeth Raine, Sarah H. Luke, Edgar C. Turner, Ute Skiba, Nicholas J. Cowan, Jassica Prajna Dewi, Andreas Dwi Advento, Anak Agung Ketut Aryawan, Jean-Pierre Caliman, Pujianto
Publikováno v: Frontiers in Forests and Global Change, Vol 7 (2024)
Oil palm (OP) plantations have replaced large areas of forest in the tropical landscape of Southeast Asia and are major emitters of greenhouse gases (GHGs). To move towards more environmentally friendly plantation management, a hopeful approach is to
Externí odkaz: https://doaj.org/article/ebdc571db4fb45a9a6844631f334ff07
Zobrazit plný text záznamu
3
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A
Autor: Grant T. Liu, Nicholas J. Cowan, Holly Dubbs, Guoling Tian, Ana G. Cristancho, Ethan M. Goldberg
Publikováno v: Molecular Genetics & Genomic Medicine
Background Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48d557b942c15f9a2efc892a7f2fe49
http://europepmc.org/articles/PMC5118204
Zobrazit plný text záznamu
7
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway
Autor: Adi Aran, Saiuj Bhat, Nicholas J. Cowan, Hannah Vanyai, Muhannad Daana, Naderah Da'amseh, Julian Ik-Tsen Heng, Guoling Tian, Linh Ngo, Hayley Daniella Cullen, Bassam Abu-Libdeh, Shimon Edvardson, Orly Elpeleg
Publikováno v: Human molecular genetics. 25(21)
Mutation in a growing spectrum of genes is known to either cause or contribute to primary or secondary microcephaly. In primary microcephaly the genetic determinants frequently involve mutations that contribute to or modulate the microtubule cytoskel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fd2959dd9b63f5647fa9513c79a599f
https://pubmed.ncbi.nlm.nih.gov/28158450
Zobrazit plný text záznamu
8
Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos
Autor: Biaobang Chen, Bin Li, Nicholas J. Cowan, Lin He, Ronggui Qu, Qing Sang, Yanping Kuang, Ruizhi Feng, Lei Wang, Zheng Yan, Yao Xu, Li Jin, Zhaogui Sun, Min Yu, Guoling Tian, Xiaoxi Sun
Publikováno v: Journal of medical genetics. 53(10)
Background TUBB8 is a primate-specific β-tubulin isotype whose expression is confined to oocytes and the early embryo. We previously found that mutations in TUBB8 caused oocyte maturation arrest. The objective was to describe newly discovered mutati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7b9783b6062a0a52baab68f58b6062
https://pubmed.ncbi.nlm.nih.gov/27273344
Zobrazit plný text záznamu
9
Mutations in TUBB8 and Human Oocyte Meiotic Arrest
Autor: Ronggui Qu, Eva Nogales, Qing Sang, Hongyan Wang, Huijuan Shi, Yi Feng, Zhaogui Sun, Qiaoli Li, Juanzi Shi, Min Yu, Rui Zhang, Qinghe Xing, Yanping Kuang, Xueqian Wang, Nicholas J. Cowan, Yusuke Fukuda, Ruijin Shao, Mohan L. Gupta, Shaozhen Zhang, Yao Xu, Li Jin, Lin He, Bin Li, Ruizhi Feng, Zheng Yan, Miao Liu, Anna Luchniak, Lei Wang, Renjie Chai, Luo Guo, Junling Chen, Guoling Tian, Xiaoxi Sun
Publikováno v: The New England journal of medicine, vol 374, iss 3
Feng, R; Sang, Q; Kuang, Y; Sun, X; Yan, Z; Zhang, S; et al.(2016). Mutations in TUBB8 and Human Oocyte Meiotic Arrest. New England Journal of Medicine, 374(3), 223-232. doi: 10.1056/NEJMoa1510791. UC Berkeley: Retrieved from: http://www.escholarship.org/uc/item/9pg7g1nv
Copyright © 2016 Massachusetts Medical Society. All rights reserved. BACKGROUND: Human reproduction depends on the fusion of a mature oocyte with a sperm cell to form a fertilized egg. The genetic events that lead to the arrest of human oocyte matur
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7872defa50df33652d7e954995dfe022
https://pubmed.ncbi.nlm.nih.gov/26789878
Zobrazit plný text záznamu
10
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
Autor: Mala Isrie, K Doonanco, Stéphanie Moortgat, Andi H. Hansen, Valeria Marton, Norma Leonard, Erica E. Davis, Faten Tinsa, Jasmin Morandell, Ender Karaca, Nicholas Katsanis, Hilde Van Esch, Elena Porta Dapena, Alejandro Sifrim, Francesca Cristofoli, David A. Keays, Zachari A. Kupchinsky, Nicholas J. Cowan, Joris Vermeesch, Martin W. Breuss, Celia Maria Rodriguez-Rodriguez, Erkan Koparir, Guoling Tian, Hakan Ulucan
Publikováno v: American journal of human genetics, 97(6), 790-800. Cell Press
Isrie, M, Breuss, M, Tian, G, Hansen, A H, Cristofoli, F, Morandell, J, Kupchinsky, Z A, Sifrim, A, Rodriguez-Rodriguez, C M, Dapena, E P, Doonanco, K, Leonard, N, Tinsa, F, Moortgat, S, Ulucan, H, Koparir, E, Karaca, E, Katsanis, N, Marton, V, Vermeesch, J R, Davis, E E, Cowan, N J, Keays, D A & Van Esch, H 2015, ' Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type ', American journal of human genetics, vol. 97, no. 6, pp. 790-800 . https://doi.org/10.1016/j.ajhg.2015.10.014
Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65841a4351a6d4ebb0981c7151205a44
https://research.vumc.nl/en/publications/49610c3c-b8df-42c7-9a8f-0fa39eeefd81
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje