Results 111 to 120 of about 125,272 (358)

The dominant strain of SARS-CoV-2 is a mosaicism

, 2021
Wei Wang, Chengpeng Li, Mei He, Shengwen Calvin Li, Lin Cao, Nai‐Zheng Ding, Cheng-Qiang He   +6 more
openalex   +2 more sources

Autophagy Activators Normalize Aberrant Tau Proteostasis and Rescue Synapses in Human Familial Alzheimer's Disease iPSC‐Derived Cortical Organoids

Advanced Science, EarlyView.
A new cerebrocortical organoid model using isogenic hiPSCs with familial Alzheimer's mutations recapitulates key AD features, including amyloid‐beta and phospho‐Tau aggregation, neuronal hyperexcitability, and synapse loss. Single‐cell RNA‐seq reveals aberrant pathways in excitatory and inhibitory neurons.
Sergio R. Labra, Jadon Compher, Akhil Prabhavalkar, Mireya Almaraz, Claudia Cedeño Kwong, Christine Baal, Maria Talantova, Nima Dolatabadi, Julian Piña‐Sanz, Yubo Wang, Leonard Yoon, Swagata Ghatak, Zi Gao, Yuting Zhang, Dorit Trudler, Lynee Massey, Wei Lin, Anthony Balistreri, Michael Bula, Nicholas J. Schork, Tony S. Mondala, Steven R. Head, Jeffery W. Kelly, Stuart A. Lipton   +23 more
wiley   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

Advanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang, Zemin Jiang, Qiaoyun Yang, Hong Zheng, Minghao Wang, Chennianci Zhu, Lih‐Wen Deng, Karen Carmelina Crasta, Yih‐Cherng Liou   +8 more
wiley   +1 more source

Generalized aggressive periodontitis in a child with 92, XXYY / 46,XY mosaicism: report of a second case

The Turkish Journal of Pediatrics, 2010
The present case report describes the oral features of tetraploid/diploid mosaicism. An 11-year-old boy with severe periodontal destruction is presented in this report.
Ebru Olgun-Erdemir, M Selman Yildirim, Meltem Karşiyaka   +2 more
doaj   +1 more source

Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]

, 2011
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill, Abruzzo, Arnold, Camps, Celeda, Cremer, D. Ioannou, D.K. Griffin, Dauwerse, DeSilva, E.J. Meershoek, Egozcue, Emmerich, Ersfeld, Fiegler, Finch, Finch, Foster, Gabriel, Griffin, Griffin, Griffin, Griffin, Griffin, Handyside, Harper, Harper, Harton, Jauch, Julien, Kallioniemi, Kearns, Kolluri, Langer, Lichter, M. Ellis, Mann, Matsuzaki, Muller, Munne, Munne, Munne, Munne, Nederlof, Nordgren, Olszewska, O’Keefe, Pinkel, Quilter, Rennstam, Roberts, Rodriguez, Rottger, Sbracia, Schardin, Schrock, Speicher, Syvanen, Tempest, Tsuchiya, Walling, Wienberg   +61 more
core   +1 more source

First Report of Costus Stripe Mosaic Virus Infecting Tradescantia spathacea Plants in Brazil

, 2021
Gabriel Madoglio Favara, de Oliveira, Camila Geovana Ferro, Heron Delgado Kraide, Eike Yudi Nishimura Carmo, Gressa Amanda Chinelato, Elliot Watanabe Kitajima, Jorge Alberto Marques Rezende   +7 more
openalex   +1 more source

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

Advanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang, Weihua Pan, Runtian Gao, Heng Hu, Wentao Gao, Murong Zhou, Yu‐Hang Yin, Zhipeng Qian, Shuilin Jin, Guohua Wang   +9 more
wiley   +1 more source

A role for plant microtubules in the formation of transmission‐specific inclusion bodies of Cauliflower mosaic virus [PDF]

, 2008
Alexandre Martinière, Daniel Gargani, Marilyne Uzest, Nicole Lautrédou, Stéphane Blanc, Martin Drucker   +5 more
openalex   +1 more source

A Multi‐Step Deposition Strategy for β‐SiC Coatings on Cf/C Composites: Achieving Breakthrough Oxidation Resistance and Mechanical Properties

Advanced Science, EarlyView.
A new multi‐step β‐SiC deposition strategy for anti‐oxidation Cf/C composites successfully achieves dual‐performance breakthrough of anti‐oxidation property (≈700 h at 1500 °C)and mechanical property (bending strength of 215 MPa and adhesion strength of 9.4 MPa).
Dou Hu, Bing Liu, Xiaoxuan Li, Jia Sun, Tao Li, Yang Xu, Hejun Li, Qiangang Fu   +7 more
wiley   +1 more source