Results 61 to 70 of about 70,597 (264)

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. [PDF]

PLoS ONE, 2012
Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113 affected family members were identified, and 17 of these kindreds were genotyped for markers on ...
Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R Webb, Shomi S Bhattacharya, Neil D Ebenezer, Alex G Morris, Alison J Hardcastle   +10 more
doaj   +1 more source

RAD21L1 Is Sufficient and Effective for Reprogramming Human Sertoli Cells to Phenotypic Spermatogonial Stem Cells Through DNA Methylation and Essential for Male Fertility

Advanced Science, EarlyView.
RAD21L1 is upregulated in human Sertoli cells to be transited to become spermatogonial stem cells by overexpressing DAZ family three genes. RAD21L1 is sufficient and effective for reprogramming Sertoli cells into human spermatogonial stem cells with high safety through DNA methylation.
Caimei He, Yinghong Cui, Wei Chen, Chunyun Li, Zuping He   +4 more
wiley   +1 more source

FOXQ1 Regulates Brain Endothelial Mitochondrial Function by Orchestrating Calcium Signaling and Cristae Morphology

Advanced Science, EarlyView.
FOXQ1 emerges as a master transcriptional regulator of brain endothelial metabolism, orchestrating mitochondrial function through dual control of calcium signaling and cristae organization. This study reveals that brain endothelial cells rely on oxidative phosphorylation rather than glycolysis alone, challenging the current metabolic paradigm and ...
Wenzheng Zou, Yuqing Lv, Lin Li, Shukui Zhang, Jiaqi Liang, Chengchao Wu, Enyu Huang, Jianwei Jiao, Jingjing Zhang   +8 more
wiley   +1 more source

Variations in Innate Immune Cell Subtypes Correlate with Epigenetic Clocks, Inflammaging and Health Outcomes

Advanced Science, EarlyView.
This study uses a high‐resolution DNA methylation reference panel for 19 immune cell‐types, as well as transcriptomic, metabolomic, and large population cohort data to show that age‐related epigenetic heterogeneity within monocytes correlates with inflammaging, biological age, and all‐causemortality, and does so more strongly than existing monocyte ...
Xiaolong Guo, Josephine A. Robertson, Andrea Aparicio, Kirsten Seale, Qingwen Chen, Anne Richmond, Zhaozhen Du, Mahnoor Sulaiman, Shijie C Zheng, Esteban Ballestar, Charlotte AM Cecil, Bastiaan T Heijmans, Steve Horvath, Varun B. Dwaraka, Jessica Lasky‐Su, Ryan Smith, Riccardo E. Marioni, Andrew E Teschendorff   +17 more
wiley   +1 more source

Molecular Chain Elongation Mechanism for n‐Caproate Biosynthesis by Megasphaera Hexanoica

Advanced Science, EarlyView.
The medium‐chain carboxylate‐producing microbe Megasphaera hexanoica is analyzed through genomics, transcriptomics, and metabolic engineering. The n‐caproate biosynthetic pathway is reconstructed in Escherichia coli, highlighting MhTHL as a key β‐ketothiolase. Structural analysis and mutagenesis reveal that MhTHL has a distinct substrate‐binding pocket,
Byoung Seung Jeon, Eun‐Jung Kim, Hogyun Seo, Hyunjin Kim, Seungjin Shin, Caroline Schlaiß, Largus T. Angenent, Kyung‐Jin Kim, Byoung‐In Sang   +8 more
wiley   +1 more source

ATX-2, the C. elegans Ortholog of Human Ataxin-2, Regulates Centrosome Size and Microtubule Dynamics.

PLoS Genetics, 2016
Centrosomes are critical sites for orchestrating microtubule dynamics, and exhibit dynamic changes in size during the cell cycle. As cells progress to mitosis, centrosomes recruit more microtubules (MT) to form mitotic bipolar spindles that ensure proper
Michael D Stubenvoll, Jeffrey C Medley, Miranda Irwin, Mi Hye Song   +3 more
doaj   +1 more source

Organoid Modeling of Mouse Anterior Tongue Epithelium Reveals Regional and Cellular Identities

Advanced Science, EarlyView.
The tongue's anterior epithelium is maintained by region‐specific stem/progenitor cells, yet in vitro models are limited. Long‐term expanding organoids are developed from adult mouse anterior tongue that retain region‐specific identity, cellular diversity, and gene regulatory features. These organoids differentiate into keratinocytes, Merkel‐like cells,
Seok‐Young Kim, Laurens H. G. Verweij, Lin Lin, Johan H. van Es, Jay Slack, Chris Winkel, Tito Candelli, Philip Lijnzaad, Thanasis Margaritis, Gerben E. Breimer, Karin Sanders, Marc van de Wetering, Hans Clevers   +12 more
wiley   +1 more source

Epstein‐Barr Virus Expressed Long Non‐Coding RNA (lncBARTs) Regulate EBV Latent Genome Replication

Advanced Science, EarlyView.
EBV produces abundant level of lncBARTs, which are essential for maintaining viral genome replication in EBV‐associated cancers. LncBARTs interact with a complex comprising BRD4, CTCF and viral protein EBNA1 at EBV oriP region. This interaction tethers oriP to host chromosomes, facilitating EBV episome replication.
Jiayan Liu, Dittman Lai‐Shun Chung, Larry Ka‐Yue Chow, Shuo Han, Wenkai Yi, Conor J. Cremin, Yingyin Liao, Pui Wang, Bobo Wing‐Yee Mok, Mingfang Ji, Jian Yan, Wei Dai, Honglin Chen   +12 more
wiley   +1 more source

A novel allele of ASY3 is associated with greater meiotic stability in autotetraploid Arabidopsis lyrata.

PLoS Genetics, 2020
In this study we performed a genotype-phenotype association analysis of meiotic stability in 10 autotetraploid Arabidopsis lyrata and A. lyrata/A. arenosa hybrid populations collected from the Wachau region and East Austrian Forealps.
Paul J Seear, Martin G France, Catherine L Gregory, Darren Heavens, Roswitha Schmickl, Levi Yant, James D Higgins   +6 more
doaj   +1 more source

Benchmarking Ploidy Estimation Methods for Bulk and Single‐Cell Whole Genome Sequencing

Advanced Science, EarlyView.
It comprehensively benchmarks computational tools for ploidy estimation from bulk and single‐cell whole‐genome sequencing data. The results highlight the strengths and limitations of each method under different conditions and identify PURPLE and SeCNV show top performance in bulk and single‐cell settings, respectively.
Yawei Song, Zilv Mei, Qijie Zheng, Qingqing Yuan, Yu Liang, Jiaqi Gao, Lang Zhou, Shuheng Wu, Wei Wu   +8 more
wiley   +1 more source