Results 171 to 180 of about 3,861,183 (367)

A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22 [PDF]

, 2001
John R. Kelsoe, M. Anne Spence, Erika Loetscher, M. Foguet, A. Dessa Sadovnick, Ronald A. Remick, Pamela Flodman, Jason V. Khristich, Zofi Mroczkowski‐Parker, John Brown, Diane Masser, Sharon Ungerleider, Mark Hyman Rapaport, William Wishart, H. Luebbert   +14 more
openalex   +1 more source

ggalign: Bridging the Grammar of Graphics and Biological Multilayered Complexity

Advanced Science, EarlyView.
The ggalign package provides a comprehensive framework for composable visualization built on top of ggplot2. Its primary purpose is to enable the construction of complex multi‐plot layouts with consistent observation alignment across plots, particularly for high‐dimensional data contexts such as genomics, transcriptomics, and microbiome studies ...
Yun Peng, Shan Jiang, Yuxuan Song, Peng Luo, Jianfeng Li, Dehua Hu, Jian‐Guo Zhou, Guangchuang Yu, Tao Xu, Shixiang Wang   +9 more
wiley   +1 more source

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders [PDF]

, 2001
Mónica Gratacòs, Marga Nadal, Rocío Martín‐Santos, Miguel Angel Pujana, Jordi Gago, Belén Peral, Lluı́s Armengol, Immaculada Ponsa, Rosa Miró, Antoni Bulbena, Xavier Estivill   +10 more
openalex   +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

IPGCA: A Comprehensive Single Cell Atlas of 1 074 127 Porcine Intestinal Cells Revealing Cellular Dynamics, Genetic Regulation, and Cross‐Species Conservation

Advanced Science, EarlyView.
A high resolution integrated cell atlas of the pig intestine provides insights into the genetic mechanisms of complex traits (Created in BioRender. Yu, P. (2025) https://BioRender.com/o14c563) Abstract The porcine intestinal tract is vital for nutrient absorption, immune regulation, and various physiological processes.
Pengfei Yu, Qinqin Xie, Xiaodian Cai, Zhanming Zhong, Ran Wei, He Han, Shuang Liu, Zhenyang Zhang, Lingyao Xu, Zitao Chen, Zhe Zhang, Qishan Wang, Yuchun Pan, Zhen Wang, Zhe Zhang   +14 more
wiley   +1 more source

Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia [PDF]

, 2001
Margaret J. Kovach, Brook Waggoner, Suzanne M. Leal, David A. Gelber, Romesh Khardori, Mark A. Levenstien, Christy A. Shanks, Gregory Gregg, Muhammad Al‐Lozi, Timothy M. Miller, Wojtek Rakowicz, Glenn Lopate, Juliane Florence, Guila Glosser, Zachary Simmons, John C. Morris, Michael P. Whyte, Alan Pestronk, Virginia Kimonis   +18 more
openalex   +1 more source

Allele‐Specific Regulation of PAXIP1‐AS1 by SMC3/CEBPB at rs112651172 in Psychiatric Disorders Drives Synaptic and Behavioral Dysfunctions in Mice

Advanced Science, EarlyView.
This study identifies a functional noncoding variant, rs112651172 (C/G), that drives allele‐specific expression of PAXIP1‐AS1 in monozygotic twin pairs discordant for schizophrenia and bipolar disorder. The risk G allele enhances CEBPB binding, leading to lncRNA upregulation, CNTNAP3 derepression, and synaptic and behavioral deficits in mice.
Chaoying Ni, He Chen, Qiaqi Chen, Yangyang Liao, Yunqian Wang, Linyan Ye, Xiaohui Wu, Hongyu Ni, Tingyun Jiang, Shufen Li, Qiong Yang, Hong Xue, Zhongju Wang, Feng Yi, Cunyou Zhao   +14 more
wiley   +1 more source

A possible susceptibility locus for bipolar affective disorder in chromosomal region 10q25–q26 [PDF]

, 2001
Sven Cichon, Gabriele Schmidt‐Wolf, J Schumacher, D Müller, Martina Hürter, Thomas G. Schulze, Margot Albus, Margitta Borrmann-Hassenbach, Ernst Franzek, M. Lanczik, J. Fritze, R. Kreiner, Bettina Weigelt, Jürgen Minges, Dirk Lichtermann, Bernard Lerer, Kyra Kanyas, Konstantin Strauch, Christine Windemuth, Max P. Baur, T. F. Wienker, Wolfgang Maier, Marcella Rietschel, Peter Propping, Markus M. Nöthen   +24 more
openalex   +1 more source

Hsa_circ_0026782 Acts as a “Molecular Break” of CREB1‐Mediated Transcription by Promoting Its Phosphorylation at Ser142 That Prevents Keloid Progression

Advanced Science, EarlyView.
Model for the role of hsa_circ_0026782/p‐CREB1 (Ser142) played in keloid. Hsa_circ_0026782 is derived from back‐splicing of ITGA7 exon 4. When hsa_circ_0026782 binds to CREB1, the exposure of the bZIP domain and dimerization of CREB1 are promoted (upper left).
Xin‐Cao Zhong, Chun‐Ye Chen, Zi‐Xuan Feng, Yong Wang, Tao Zhang, Ze‐Ming Zhuang, Zhang‐Rui Wu, Yong‐Zhong Du, Jun Chen, Xiao‐Ying Lin, Wei‐Qiang Tan   +10 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source